[{"additionalCutaneousFeatures":"Punctate papules on palms and soles","additionalExtracutaneousFeatures":"association with cancer in some families","category":"pEDD","fullReference":"Pohler E, Mamai O, Hirst J et al. Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nat Genet 2012; 44:1272-6. | Elhaji Y, Hedlin C, Nath A et al. AAGAB mutations in 18 Canadian families with punctate palmoplantar keratoderma and a possible link to cancer. J Cutan Med Surg 2020; 24:28-32.","gene":"AAGAB","gene_lowercase":"aagab","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s3_b.jpeg","inheritance":"AD","keyClinicalClues":"Punctate papules on palms and soles; association with cancer in some families.","newName":"AAGAB-pEDD","onset":"Childhood/adult","pathway":"Signalling molecules","photoCaption":"AAGAB-pEDD: punctate papules coalescing into focal plantar plaques.","photos":[{"caption":"AAGAB-pEDD: punctate papules coalescing into focal plantar plaques.","figure":"Figure 2","figureUrl":"https://doi.org/10.1093/bjd/ljaf054","panel":"b","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s3_b.jpeg"}],"previousName":"Punctate PPK IA (PPPK IA)","references":"Pohler (2012), Elhaji (2020)","searchKeywords":["aagab","pedd","punctate","ppk","ia","pppk","signalling","molecules","papules","on","palms","and","soles","association","with","cancer","in","some","families","pohler","e","mamai","o","hirst","j","et","al","haploinsufficiency","for","causes","clinically","heterogeneous","forms","of","palmoplantar","keratoderma","nat","genet","2012","44","1272","6","elhaji","y","hedlin","c","nath","a","mutations","18","canadian","possible","link","to","cutan","med","surg","2020","24","28","32"],"id":"AAGAB-pEDD"},{"additionalCutaneousFeatures":"Shortening and webbing of the digits. Mild-to-severe ear deformities, hypercurvature of the nail plate and alopecia can be present. Some cases show a GJB3-nEDD-like phenotype (well-demarcated, thickened, erythematous plaques). Histopathology (Ultrastructural): malformed lamellar granules and lipid vacuoles in granular layer and corneocytes.","additionalExtracutaneousFeatures":"Severe cases (formerly Harlequin) show deformed nose, ears, hands, feet, and joint contractures.","category":"nEDD","fullReference":"Kelsell DP, Norgett EE, Unsworth H et al. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet 2005; 76:794-803. || Akiyama M, Sugiyama-Nakagiri Y, Sakai K et al. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest 2005; 115:1777-84. || Lefévre C, Audebert S, Jobard F et al. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet 2003; 12:2369-78. || Hotz A, Fölster-Holst R, Oji V et al. Erythrokeratodermia variabilis-like phenotype in patients carrying ABCA12 mutations. Genes (Basel) 2024; 15:288. || Noda T, Takeichi T, Tanahashi K et al. Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants. Exp Dermatol 2024; 33:e15072.","gene":"ABCA12","gene_lowercase":"abca12","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_o.jpeg","inheritance":"AR","keyClinicalClues":"Phenotype can vary from mild to very severe, including at birth- truncal fissured plate-like scales, severe ectropion and eclabium, resolving to severe scaly erythroderma. Milder phenotypes can present as collodion or scaly erythroderma.","newName":"ABCA12-nEDD","onset":"Birth","pathway":"Lipid synthesis and transport","photoCaption":"ABCA12-nEDD: ear deformity showing fusion of the retroauricular fold, resulting in an underfolded pinna accompanied by erythema and scaling.","photos":[{"caption":"ABCA12-nEDD: ear deformity showing fusion of the retroauricular fold, resulting in an underfolded pinna accompanied by erythema and scaling.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"o","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_o.jpeg"},{"caption":"ABCA12-nEDD: prominent erythema with extensive uniform scaling on the lower back and buttocks.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"m","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_m.jpeg"},{"caption":"ABCA12-nEDD: joint deformity of the hand with lateral angulation of the wrist and visible restriction of the thumb mobility. Palms show diffuse thickening, scaling and superficial fissuring.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"n","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_n.jpeg"}],"previousName":"Harlequin ichthyosis, ARCI, CIE, Erythrokeratodermia variabilis et progressiva","references":"Kelsell (2005), Akiyama (2005), Lefèvre (2003), Hotz (2024), Noda (2024)","searchKeywords":["abca12","nedd","harlequin","ichthyosis","arci","cie","erythrokeratodermia","variabilis","et","progressiva","lipid","synthesis","and","transport","phenotype","can","vary","from","mild","to","very","severe","including","at","birth","truncal","fissured","plate","like","scales","ectropion","eclabium","resolving","scaly","erythroderma","milder","phenotypes","present","as","collodion","or","shortening","webbing","of","the","digits","ear","deformities","hypercurvature","nail","alopecia","be","some","cases","show","a","gjb3","well","demarcated","thickened","erythematous","plaques","histopathology","ultrastructural","malformed","lamellar","granules","vacuoles","in","granular","layer","corneocytes","formerly","deformed","nose","ears","hands","feet","joint","contractures","kelsell","dp","norgett","ee","unsworth","h","al","mutations","underlie","congenital","skin","disease","am","j","hum","genet","2005","76","794","803","akiyama","m","sugiyama","nakagiri","y","sakai","k","transporter","functional","recovery","by","corrective","gene","transfer","clin","invest","115","1777","84","lef","vre","c","audebert","s","jobard","f","are","associated","with","type","2","mol","2003","12","2369","78","hotz","lster","holst","r","oji","v","patients","carrying","genes","basel","2024","15","288","noda","t","takeichi","tanahashi","updated","mutational","spectrum","genotype","correlations","pathogenic","variants","exp","dermatol","33","e15072"],"id":"ABCA12-nEDD"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Song D, Li J, Zhang F et al. A novel compound heterozygous variant in the ABCA12 gene associated with mild palmoplantar keratoderma. Indian J Dermatol Venereol Leprol 2024; https://doi.org/10.25259/IJDVL_438_2024 (Epub ahead of print).","gene":"ABCA12","gene_lowercase":"abca12","imageUrl":"","inheritance":"AR","keyClinicalClues":"Focal keratoderma feet and keratoderma on palmar aspect of fingers.","newName":"ABCA12-pEDD","onset":"Childhood","pathway":"Signalling molecules","previousName":"ABCA12-associated PPK","references":"Song (2024)","searchKeywords":["abca12","pedd","associated","ppk","signalling","molecules","focal","keratoderma","feet","and","on","palmar","aspect","of","fingers","song","d","li","j","zhang","f","et","al","a","novel","compound","heterozygous","variant","in","the","gene","with","mild","palmoplantar","indian","dermatol","venereol","leprol","2024","https","doi","org","10","25259","ijdvl_438_2024","epub","ahead","print"],"id":"ABCA12-pEDD"},{"additionalCutaneousFeatures":"Birth: Collodion membrane or erythrodermic. Later: Erythroderma with fine white scaling, can be patterned well-circumscribed scaling plaques. PPK, hypohidrosis, mild ectropion, flexural and neck lichenification.","additionalExtracutaneousFeatures":"Variable severity of muscle weakness (sometimes adult onset) with high muscle enzymes; variable abnormal hepatic function, steatohepatitis, hepatosplenomegaly; cataracts, strabismus; occasional neurosensory deafness. Lipid vacuoles in neutrophils (Jordan anomaly).","category":"sEDD","fullReference":"Çetinarslan T, Yazıcı H, Erdoğan KM et al. Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma. Pediatr Dermatol 2024; 41:1174-8. || Lefèvre C, Jobard F, Caux F et al. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet 2001; 69:1002-12. || Kopp J, Has C, Hotz A et al. Maternal isodisomy of chromosome 3 combined with a de novo mutation in the ABHD5 gene causes autosomal recessive Chanarin-Dorfman syndrome. Genes 2021; 12:1164.","gene":"ABHD5","gene_lowercase":"abhd5","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_l.jpeg","inheritance":"AR","keyClinicalClues":"Diffuse erythema and fine scaling; alopecia; ataxia, myopathy, hearing loss.","newName":"ABHD5-sEDD","onset":"Birth","pathway":"Lipid synthesis and transport","photoCaption":"ABHD5-sEDD: skin thickening and greyish hyperpigmentation on the neck of a young girl.","photos":[{"caption":"ABHD5-sEDD: skin thickening and greyish hyperpigmentation on the neck of a young girl.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"l","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_l.jpeg"},{"caption":"ABHD5-sEDD: lipid vacuoles in neutrophils (called a Jordan anomaly) in a peripheral blood smear.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"k","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_k.jpeg"}],"previousName":"Chanarin-Dorfman syndrome (CDS)","references":"Çetinarslan (2024), Lefèvre (2001), Kopp (2021)","searchKeywords":["abhd5","sedd","chanarin","dorfman","syndrome","cds","lipid","synthesis","and","transport","diffuse","erythema","fine","scaling","alopecia","ataxia","myopathy","hearing","loss","birth","collodion","membrane","or","erythrodermic","later","erythroderma","with","white","can","be","patterned","well","circumscribed","plaques","ppk","hypohidrosis","mild","ectropion","flexural","neck","lichenification","variable","severity","of","muscle","weakness","sometimes","adult","onset","high","enzymes","abnormal","hepatic","function","steatohepatitis","hepatosplenomegaly","cataracts","strabismus","occasional","neurosensory","deafness","vacuoles","in","neutrophils","jordan","anomaly","etinarslan","t","yaz","c","h","erdo","an","km","et","al","four","cases","presenting","different","types","erythrokeratoderma","pediatr","dermatol","2024","41","1174","8","lef","vre","jobard","f","caux","mutations","cgi","58","the","gene","encoding","a","new","protein","esterase","lipase","thioesterase","subfamily","am","j","hum","genet","2001","69","1002","12","kopp","has","hotz","maternal","isodisomy","chromosome","3","combined","de","novo","mutation","causes","autosomal","recessive","genes","2021","1164"],"id":"ABHD5-sEDD"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"Neonatal hypotonia, seizures, apnoeic spells, delayed psychomotor development, inflammatory and demyelinating peripheral and central neuropathies, dysmorphic features (hypertelorism, epicanthus, low nasal bridge, low-set ears, polydactyly), hearing and vision loss.","category":"sEDD","fullReference":"Gong Z, Yang S, Ling S et al. Dermatopathological features and successful treatment with topical antioxidant for ichthyosiform lesions in Mitchell syndrome caused by an ACOX1 variant. J Dermatol 2025, 52:445-51. || Thiels C, Lucke T, Rothoeft T et al. ACOX1 gain-of-function variant in two German pediatric patients, in one case mimicking autoimmune inflammatory disease. Neuropediatrics 2024; 55:140-5. || Filippi C, Brunetti S, Plumari M et al. ACOX1 gain-of-function variation in a 10-years-old patient responsive to immunomodulating therapy. Am J Med Genet A 2024; 194:e63796.","gene":"ACOX1","gene_lowercase":"acox1","imageUrl":"","inheritance":"AR/AD","keyClinicalClues":"Scaling, erythroderma.","newName":"ACOX1-sEDD","onset":"Congenital","pathway":"Lipid synthesis and transport","previousName":"Peroxisomal acyl-CoA oxidase deficiency","references":"Gong (2025), Thiels (2024), Filippi (2024)","searchKeywords":["acox1","sedd","peroxisomal","acyl","coa","oxidase","deficiency","lipid","synthesis","and","transport","scaling","erythroderma","neonatal","hypotonia","seizures","apnoeic","spells","delayed","psychomotor","development","inflammatory","demyelinating","peripheral","central","neuropathies","dysmorphic","features","hypertelorism","epicanthus","low","nasal","bridge","set","ears","polydactyly","hearing","vision","loss","topical","antioxidant","n","acetylcysteine","gong","2025","z","yang","s","ling","et","al","dermatopathological","successful","treatment","with","for","ichthyosiform","lesions","in","mitchell","syndrome","caused","by","an","variant","j","dermatol","52","445","51","thiels","c","lucke","t","rothoeft","gain","of","function","two","german","pediatric","patients","one","case","mimicking","autoimmune","disease","neuropediatrics","2024","55","140","5","filippi","brunetti","plumari","m","variation","a","10","years","old","patient","responsive","to","immunomodulating","therapy","am","med","genet","194","e63796"],"treatment":"Topical antioxidant N-acetylcysteine (Gong, 2025).","id":"ACOX1-sEDD"},{"additionalCutaneousFeatures":"Birth: Scaly, erythematous, thickened, rarely collodion membrane. Later: Thickened, nonerythematous with variable desquamation. Very pruritic, prominent lichenification around flexures.","additionalExtracutaneousFeatures":"Short stature; variable delayed motor development with spastic diplegia, seizures and speech delay, glistening white dots surrounding fovea, macular degeneration by school age, corneal opacities, photophobia.","category":"sEDD","fullReference":"Elias PM, Williams ML, Crumrine D, Schmuth M. Inherited clinical disorders of lipid metabolism. Curr Probl Dermatol 2010; 39:30-88. || Carney G, Wei S, Rizzo WB. Sjögren-Larsson syndrome: seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2. Hum Mutat 2004; 24:186. || Shibaki A, Akiyama M, Shimizu H. Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjögren-Larsson syndrome. J Invest Dermatol 2004; 123:1197-9.","gene":"ALDH3A2","gene_lowercase":"aldh3a2","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_j.jpeg","inheritance":"AR","keyClinicalClues":"Thick leathery skin with yellow hue, pruritus; spastic diplegia.","newName":"ALDH3A2-sEDD","onset":"Birth","pathway":"Lipid synthesis and transport","photoCaption":"ALDH3A2-sEDD: the dorsal aspect of the hands and fingers shows leathery cutaneous thickening and a yellow hue.","photos":[{"caption":"ALDH3A2-sEDD: the dorsal aspect of the hands and fingers shows leathery cutaneous thickening and a yellow hue.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"j","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_j.jpeg"}],"previousName":"Sjögren-Larsson syndrome (SLS)","references":"Elias (2010), Carney (2004), Shibaki (2004)","searchKeywords":["aldh3a2","sedd","sj","gren","larsson","syndrome","sls","lipid","synthesis","and","transport","thick","leathery","skin","with","yellow","hue","pruritus","spastic","diplegia","birth","scaly","erythematous","thickened","rarely","collodion","membrane","later","nonerythematous","variable","desquamation","very","pruritic","prominent","lichenification","around","flexures","short","stature","delayed","motor","development","seizures","speech","delay","glistening","white","dots","surrounding","fovea","macular","degeneration","by","school","age","corneal","opacities","photophobia","elias","pm","williams","ml","crumrine","d","schmuth","m","inherited","clinical","disorders","of","metabolism","curr","probl","dermatol","2010","39","30","88","carney","g","wei","s","rizzo","wb","seven","novel","mutations","in","the","fatty","aldehyde","dehydrogenase","gene","hum","mutat","2004","24","186","shibaki","a","akiyama","shimizu","h","heterozygous","are","associated","defective","lamellar","granule","formation","japanese","family","j","invest","123","1197","9"],"id":"ALDH3A2-sEDD"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Jobard F, Lefèvre C, Karaduman A et al. Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet 2002; 11:107-13. || Harting M, Brunetti-Pierri N, Chan CS et al. Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. Arch Dermatol 2008; 144:351-6.","gene":"ALOX12B","gene_lowercase":"alox12b","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_b.jpeg","inheritance":"AR","keyClinicalClues":"Generalized mild scaling, collodion membrane, prominent erythema, anterior overfolded ear deformity, sometimes self-improving.","newName":"ALOX12B-nEDD","onset":"Birth","pathway":"Lipid synthesis and transport","photoCaption":"ALOX12B-nEDD: large adherent scales on the anterior aspects of the lower legs in a patient with a darker skin phenotype.","photos":[{"caption":"ALOX12B-nEDD: large adherent scales on the anterior aspects of the lower legs in a patient with a darker skin phenotype.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"b","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_b.jpeg"},{"caption":"ALOX12B-EDD: erythema, smooth thickening and hyperlinearity (excessive wrinkling) on the palmar surface.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"c","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_c.jpeg"}],"previousName":"Lamellar ichthyosis/CIE, ARCI","references":"Jobard (2002), Harting (2008)","searchKeywords":["alox12b","nedd","lamellar","ichthyosis","cie","arci","lipid","synthesis","and","transport","generalized","mild","scaling","collodion","membrane","prominent","erythema","anterior","overfolded","ear","deformity","sometimes","self","improving","jobard","f","lef","vre","c","karaduman","a","et","al","lipoxygenase","3","aloxe3","12","r","are","mutated","in","non","bullous","congenital","ichthyosiform","erythroderma","ncie","linked","to","chromosome","17p13","1","hum","mol","genet","2002","11","107","13","harting","m","brunetti","pierri","n","chan","cs","healing","nonbullous","due","2","novel","mutations","the","gene","arch","dermatol","2008","144","351","6"],"id":"ALOX12B-nEDD"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Jobard F, Lefèvre C, Karaduman A et al. Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet 2002; 11:107-13.","gene":"ALOXE3","gene_lowercase":"aloxe3","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_d.jpeg","inheritance":"AR","keyClinicalClues":"Generalized mild scaling, collodion membrane at birth in some patients, sometimes self-improving.","newName":"ALOXE3-nEDD","onset":"Birth","pathway":"Lipid synthesis and transport","photoCaption":"ALOXE3-nEDD: diffuse moderate scaling on the trunk.","photos":[{"caption":"ALOXE3-nEDD: diffuse moderate scaling on the trunk.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"d","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_d.jpeg"}],"previousName":"Lamellar ichthyosis, CIE, ARCI","references":"Jobard (2002)","searchKeywords":["aloxe3","nedd","lamellar","ichthyosis","cie","arci","lipid","synthesis","and","transport","generalized","mild","scaling","collodion","membrane","at","birth","in","some","patients","sometimes","self","improving","jobard","f","lef","vre","c","karaduman","a","et","al","lipoxygenase","3","12","r","alox12b","are","mutated","non","bullous","congenital","ichthyosiform","erythroderma","ncie","linked","to","chromosome","17p13","1","hum","mol","genet","2002","11","107","13"],"id":"ALOXE3-nEDD"},{"additionalCutaneousFeatures":"Irregular erythematous plaques with fine scaling and desquamation, including face; PPK; variable alopecia; nail dystrophy; anhidrosis.","additionalExtracutaneousFeatures":"Highly variable: intellectual/psychomotor developmental delay and growth delay; photophobia, corneal opacity; episodic thrombocytopenia; enteropathy; sensorineural deafness, neuropathy.","category":"sEDD","fullReference":"Faghihi F, Khamirani HJ, Zoghi S et al. Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1. Eur J Med Genet 2022; 65:104449. || Vasconcelos AP, Nogueira A, Matos P et al. Severe KIDAR syndrome caused by deletion in the AP1B1 gene: report of a teenage patient and systematic review of the literature. Eur J Med Genet 2023; 66:104827.","gene":"AP1B1","gene_lowercase":"ap1b1","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s4_g.jpeg","inheritance":"AR","keyClinicalClues":"Sensorineural deafness; spiny follicular-based hyperkeratosis.","newName":"AP1B1-sEDD-KID","onset":"Birth","pathway":"Membrane sorting/vesicular trafficking","photoCaption":"AP1B1-sEDD: 28-year-old woman with generalized erythroderma and fine scaling on the shoulder and proximal arm with accentuation at the axillary vault border.","photos":[{"caption":"AP1B1-sEDD: 28-year-old woman with generalized erythroderma and fine scaling on the shoulder and proximal arm with accentuation at the axillary vault border.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"g","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s4_g.jpeg"}],"previousName":"Keratitis-ichthyosis-deafness (KID) syndrome, autosomal recessive (KIDAR)","references":"Faghihi (2022), Vasconcelos (2023)","searchKeywords":["ap1b1","sedd","kid","keratitis","ichthyosis","deafness","syndrome","autosomal","recessive","kidar","membrane","sorting","vesicular","trafficking","sensorineural","spiny","follicular","based","hyperkeratosis","irregular","erythematous","plaques","with","fine","scaling","and","desquamation","including","face","ppk","variable","alopecia","nail","dystrophy","anhidrosis","highly","intellectual","psychomotor","developmental","delay","growth","photophobia","corneal","opacity","episodic","thrombocytopenia","enteropathy","neuropathy","faghihi","f","khamirani","hj","zoghi","s","et","al","phenotypic","spectrum","of","due","to","mutations","in","eur","j","med","genet","2022","65","104449","vasconcelos","ap","nogueira","a","matos","p","severe","caused","by","deletion","the","gene","report","teenage","patient","systematic","review","literature","2023","66","104827"],"id":"AP1B1-sEDD-KID"},{"additionalCutaneousFeatures":"Variable severity from exfoliative erythroderma to fine scaling; ectropion; mild PPK; hypotrichosis, hypohidrosis.","additionalExtracutaneousFeatures":"Mental retardation/global developmental delay, enteropathy, sensorineural deafness, neuropathy; failure to thrive, poorly calcified teeth, duodenal structural abnormalities; mild-to-moderate episodic or persistent thrombocytopenia; hepatomegaly, liver fibrosis, cirrhosis.","category":"sEDD","fullReference":"Montpetit A, Côté S, Brustein E et al. Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. PLOS Genet 2008; 4:e1000296.","gene":"AP1S1","gene_lowercase":"ap1s1","imageUrl":"","inheritance":"AR","keyClinicalClues":"Erythroderma with skin thickening; fragile hair.","newName":"AP1S1-sEDD","onset":"Birth","pathway":"Membrane sorting/vesicular trafficking","previousName":"Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma (MEDNIK) syndrome","references":"Montpetit (2008)","searchKeywords":["ap1s1","sedd","mental","retardation","enteropathy","deafness","peripheral","neuropathy","ichthyosis","and","keratoderma","mednik","syndrome","membrane","sorting","vesicular","trafficking","erythroderma","with","skin","thickening","fragile","hair","variable","severity","from","exfoliative","to","fine","scaling","ectropion","mild","ppk","hypotrichosis","hypohidrosis","global","developmental","delay","sensorineural","failure","thrive","poorly","calcified","teeth","duodenal","structural","abnormalities","moderate","episodic","or","persistent","thrombocytopenia","hepatomegaly","liver","fibrosis","cirrhosis","montpetit","a","c","t","s","brustein","e","et","al","disruption","of","causing","novel","neurocutaneous","perturbs","development","the","spinal","cord","plos","genet","2008","4","e1000296"],"id":"AP1S1-sEDD"},{"additionalCutaneousFeatures":"Aquagenic, diffuse PPK, often tinea superinfection","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Blaydon DC, Lind LK, Plagnol V et al. Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet 2013; 93:330-5.","gene":"AQP5","gene_lowercase":"aqp5","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s3_h.jpeg","inheritance":"AD","keyClinicalClues":"Aquagenic, diffuse PPK, often tinea superinfection.","newName":"AQP5-pEDD","onset":"Infancy","pathway":"Channels","photoCaption":"AQP5-pEDD: diffuse, plantar keratoderma with tinea pedis.","photos":[{"caption":"AQP5-pEDD: diffuse, plantar keratoderma with tinea pedis.","figure":"Figure 2","figureUrl":"https://doi.org/10.1093/bjd/ljaf054","panel":"h","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s3_h.jpeg"}],"previousName":"PPK, Bothnian type","references":"Blaydon (2013)","searchKeywords":["aqp5","pedd","ppk","bothnian","type","channels","aquagenic","diffuse","often","tinea","superinfection","blaydon","dc","lind","lk","plagnol","v","et","al","mutations","in","encoding","a","water","channel","protein","cause","autosomal","dominant","nonepidermolytic","palmoplantar","keratoderma","am","j","hum","genet","2013","93","330","5"],"id":"AQP5-pEDD"},{"additionalCutaneousFeatures":"Severe hyperlinearity of palms and soles.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Boyden LM, Zhou J, Hu R et al. Mutations in ASPRV1 cause dominantly inherited ichthyosis. Am J Hum Genet 2020; 107:158-63.","gene":"ASPRV1","gene_lowercase":"asprv1","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s10_g.jpeg","inheritance":"AD","keyClinicalClues":"Generalized large and plate-like scales with PPK, absent or mild erythema; some milder cases resemble FLG-nEDD.","newName":"ASPRV1-nEDD","onset":"Birth","pathway":"Enzymes","photoCaption":"ASPRV1-nEDD: large lamellated scaling on the legs of a boy with skin of colour.","photos":[{"caption":"ASPRV1-nEDD: large lamellated scaling on the legs of a boy with skin of colour.","figure":"Figure 5","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"g","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s10_g.jpeg"},{"caption":"ASPRV1-nEDD: generalized large scales and erythema on the legs of a patient with a light skin phototype.","figure":"Figure 5","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"h","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s10_h.jpeg"}],"previousName":"Autosomal dominant lamellar ichthyosis","references":"Boyden (2020)","searchKeywords":["asprv1","nedd","autosomal","dominant","lamellar","ichthyosis","enzymes","generalized","large","and","plate","like","scales","with","ppk","absent","or","mild","erythema","some","milder","cases","resemble","flg","severe","hyperlinearity","of","palms","soles","boyden","lm","zhou","j","hu","r","et","al","mutations","in","cause","dominantly","inherited","am","hum","genet","2020","107","158","63"],"id":"ASPRV1-nEDD"},{"additionalCutaneousFeatures":"Mainly localized on folds or seborrhoeic areas, palmar pitting, oral papules, papules on the dorsal hands, nail changes (red/white linear stripes, distal detachment, subungual hyperkeratosis), vegetations of inguinal folds, recurrent bacterial or viral infections. Histopathology: Acantholysis and dyskeratosis.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Sakuntabhai A, Ruiz-Perez V, Carter S et al. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat Genet 1999; 21:271-7.","gene":"ATP2A2","gene_lowercase":"atp2a2","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s10_n.jpeg","inheritance":"AD","keyClinicalClues":"Follicular keratotic papules coalescing into plaques (neck, chest, folds), palmar pitting, oral papules, nail changes.","newName":"ATP2A2-nEDD","onset":"Childhood or later","pathway":"Channels","photoCaption":"ATP2A2-nEDD: follicular keratotic papules coalescing into plaques on the neck.","photos":[{"caption":"ATP2A2-nEDD: follicular keratotic papules coalescing into plaques on the neck.","figure":"Figure 5","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"n","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s10_n.jpeg"}],"previousName":"Darier-White disease, keratosis follicularis","references":"Sakuntabhai (1999)","searchKeywords":["atp2a2","nedd","darier","white","disease","keratosis","follicularis","channels","follicular","keratotic","papules","coalescing","into","plaques","neck","chest","folds","palmar","pitting","oral","nail","changes","mainly","localized","on","or","seborrhoeic","areas","the","dorsal","hands","red","linear","stripes","distal","detachment","subungual","hyperkeratosis","vegetations","of","inguinal","recurrent","bacterial","viral","infections","histopathology","acantholysis","and","dyskeratosis","sakuntabhai","a","ruiz","perez","v","carter","s","et","al","mutations","in","encoding","ca2","pump","cause","nat","genet","1999","21","271","7"],"id":"ATP2A2-nEDD"},{"additionalCutaneousFeatures":"Favours skin folds but also present on other sites; susceptible to flares due to bacterial, viral and mycotic infections. Histopathology: Acantholysis and dyskeratosis.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Hu Z, Bonifas JM, Beech J et al. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet 2000; 24:61-5. || Sudbrak R, Brown J, Dobson-Stone C et al. Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. Hum Mol Genet 2000; 9:1131-40.","gene":"ATP2C1","gene_lowercase":"atp2c1","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s10_m.jpeg","inheritance":"AD","keyClinicalClues":"Erythema, vesicles, erosions in skin folds; flares with infections.","newName":"ATP2C1-nEDD","onset":"Late onset","pathway":"Channels","photoCaption":"ATP2C1-nEDD: Erythema and erosions in the inguinal skin folds.","photos":[{"caption":"ATP2C1-nEDD: Erythema and erosions in the inguinal skin folds.","figure":"Figure 5","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"m","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s10_m.jpeg"}],"previousName":"Hailey-Hailey disease","references":"Hu (2000), Sudbrak (2000)","searchKeywords":["atp2c1","nedd","hailey","disease","channels","erythema","vesicles","erosions","in","skin","folds","flares","with","infections","favours","but","also","present","on","other","sites","susceptible","to","due","bacterial","viral","and","mycotic","histopathology","acantholysis","dyskeratosis","hu","z","bonifas","jm","beech","j","et","al","mutations","encoding","a","calcium","pump","cause","nat","genet","2000","24","61","5","sudbrak","r","brown","dobson","stone","c","is","caused","by","novel","ca","2","hum","mol","9","1131","40"],"id":"ATP2C1-nEDD"},{"additionalCutaneousFeatures":"Pink-red coalescing plaques with areas of sparing. Some individuals have pustules within plaques.","additionalExtracutaneousFeatures":"Some individuals have joint pain.","category":"nEDD","fullReference":"Takeichi T, Sugiura K, Nomura T et al. Pityriasis rubra pilaris type V as an autoinflammatory disease by CARD14 mutations. JAMA Dermatol 2017; 153:66-70. || Craiglow BG, Boyden LM, Hu R et al. CARD14-associated papulosquamous eruption: a spectrum including features of psoriasis and pityriasis rubra pilaris. J Am Acad Dermatol 2018; 79:487-94.","gene":"CARD14","gene_lowercase":"card14","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s10_j.jpeg","inheritance":"AD","keyClinicalClues":"Prominent facial involvement, pink-red coalescing plaques, localized or generalized scaling/erythema. Can have ectropion when severe.","newName":"CARD14-nEDD","onset":"Infancy","pathway":"Miscellaneous","photoCaption":"CARD14-nEDD: generalized scaling and erythema on the arm and the trunk.","photos":[{"caption":"CARD14-nEDD: generalized scaling and erythema on the arm and the trunk.","figure":"Figure 5","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"j","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s10_j.jpeg"}],"previousName":"Pityriasis rubra pilaris type V","references":"Takeichi (2017), Craiglow (2018)","searchKeywords":["card14","nedd","pityriasis","rubra","pilaris","type","v","miscellaneous","prominent","facial","involvement","pink","red","coalescing","plaques","localized","or","generalized","scaling","erythema","can","have","ectropion","when","severe","with","areas","of","sparing","some","individuals","pustules","within","joint","pain","ustekinumab","and","th17","inhibitors","work","well","takeichi","2017","craiglow","2018","t","sugiura","k","nomura","et","al","as","an","autoinflammatory","disease","by","mutations","jama","dermatol","153","66","70","bg","boyden","lm","hu","r","associated","papulosquamous","eruption","a","spectrum","including","features","psoriasis","j","am","acad","79","487","94"],"treatment":"Ustekinumab and Th17 inhibitors work well (Takeichi, 2017; Craiglow, 2018).","id":"CARD14-nEDD"},{"additionalCutaneousFeatures":"Only three patients from two families reported.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Kirchmeier P, Zimmer A, Bouadjar B et al. Whole-exome-sequencing reveals small deletions in CASP14 in patients with autosornal recessive inherited ichthyosis. Acta Derm Venereol 2017; 97:102-4.","gene":"CASP14","gene_lowercase":"casp14","imageUrl":"","inheritance":"AR","keyClinicalClues":"Generalized fine whitish scales, similar to FLG-nEDD.","newName":"CASP14-nEDD","onset":"Childhood","pathway":"Enzymes","previousName":"Lamellar ichthyosis, ARCI","references":"Kirchmeier (2017)","searchKeywords":["casp14","nedd","lamellar","ichthyosis","arci","enzymes","generalized","fine","whitish","scales","similar","to","flg","only","three","patients","from","two","families","reported","kirchmeier","p","zimmer","a","bouadjar","b","et","al","whole","exome","sequencing","reveals","small","deletions","in","with","autosornal","recessive","inherited","acta","derm","venereol","2017","97","102","4"],"id":"CASP14-nEDD"},{"additionalCutaneousFeatures":"Early onset of punctate papules on palms and soles, cheilitis, leuconychia, knuckle pads, peeling skin","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Lin Z, Zhao J, Nitoiu D et al. Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads. Am J Hum Genet 2015; 96:440-7.","gene":"CAST","gene_lowercase":"cast","imageUrl":"","inheritance":"AR","keyClinicalClues":"Punctate papules on palms/soles, cheilitis, leuconychia, knuckle pads, peeling skin.","newName":"CAST-pEDD","onset":"Infancy","pathway":"Enzymes and their inhibitors","previousName":"Peeling skin with leuconychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK) syndrome","references":"Lin (2015)","searchKeywords":["cast","pedd","peeling","skin","with","leuconychia","acral","punctate","keratoses","cheilitis","and","knuckle","pads","plack","syndrome","enzymes","their","inhibitors","papules","on","palms","soles","early","onset","of","lin","z","zhao","j","nitoiu","d","et","al","loss","function","mutations","in","cause","leukonychia","am","hum","genet","2015","96","440","7"],"id":"CAST-pEDD"},{"additionalCutaneousFeatures":"Histopathology: If biopsied in the centre of the lesion: superficial detachment of the horny layer.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Oji V, Eckl K-M, Aufenvenne K et al. Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unravelling the peeling skin disease. Am J Hum Genet 2010; 87:274-81.","gene":"CDSN","gene_lowercase":"cdsn","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s9_i.jpeg","inheritance":"AR","keyClinicalClues":"Generalized superficial skin peeling with erythema, intractable pruritus, atopic diathesis.","newName":"CDSN-nEDD","onset":"Birth","pathway":"Structural proteins","photoCaption":"CDSN-nEDD: diffuse erythema and superficial peeling of the skin leaving patchy areas of more pronounced erythema.","photos":[{"caption":"CDSN-nEDD: diffuse erythema and superficial peeling of the skin leaving patchy areas of more pronounced erythema.","figure":"Figure 2","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"i","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s9_i.jpeg"}],"previousName":"Peeling skin syndrome","references":"Oji (2010)","searchKeywords":["cdsn","nedd","peeling","skin","syndrome","structural","proteins","generalized","superficial","with","erythema","intractable","pruritus","atopic","diathesis","histopathology","if","biopsied","in","the","centre","of","lesion","detachment","horny","layer","oji","v","eckl","k","m","aufenvenne","et","al","loss","corneodesmosin","leads","to","severe","barrier","defect","and","atopy","unravelling","disease","am","j","hum","genet","2010","87","274","81"],"id":"CDSN-nEDD"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Radner FPW, Marrakchi S, Kirchmeier P et al. Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. PLOS Genet 2013; 9:e1003536.","gene":"CERS3","gene_lowercase":"cers3","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_g.jpeg","inheritance":"AR","keyClinicalClues":"Collodion membrane at birth, generalized fine scales and erythroderma.","newName":"CERS3-nEDD","onset":"Birth","pathway":"Lipid synthesis and transport","photoCaption":"CERS3-nEDD: erythroderma with minimal scaling.","photos":[{"caption":"CERS3-nEDD: erythroderma with minimal scaling.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"g","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_g.jpeg"}],"previousName":"Lamellar ichthyosis, CIE, ARCI","references":"Radner (2013)","searchKeywords":["cers3","nedd","lamellar","ichthyosis","cie","arci","lipid","synthesis","and","transport","collodion","membrane","at","birth","generalized","fine","scales","erythroderma","radner","fpw","marrakchi","s","kirchmeier","p","et","al","mutations","in","cause","autosomal","recessive","congenital","humans","plos","genet","2013","9","e1003536"],"id":"CERS3-nEDD"},{"additionalCutaneousFeatures":"Highly variable, may be erythrodermic at birth; loss of eyelashes and outer third of eyebrows.","additionalExtracutaneousFeatures":"Neonatal jaundice with hepatomegaly; sclerosing cholangitis or congenital paucity of bile ducts.","category":"sEDD","fullReference":"Salik D, Hadj-Rabia S, Hohl D et al. Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome. Pediatr Dermato/2022; 39:590-3.","gene":"CLDN1","gene_lowercase":"cldn1","imageUrl":"","inheritance":"AR","keyClinicalClues":"Mild fine scaling; coarse thick, curly hair with frontotemporal scarring alopecia.","newName":"CLDN1-sEDD-NISCH","onset":"Birth","pathway":"Structural proteins","previousName":"Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome)","references":"Salik (2022)","searchKeywords":["cldn1","sedd","nisch","neonatal","ichthyosis","sclerosing","cholangitis","syndrome","structural","proteins","mild","fine","scaling","coarse","thick","curly","hair","with","frontotemporal","scarring","alopecia","highly","variable","may","be","erythrodermic","at","birth","loss","of","eyelashes","and","outer","third","eyebrows","jaundice","hepatomegaly","or","congenital","paucity","bile","ducts","salik","d","hadj","rabia","s","hohl","et","al","evaluation","neurodevelopmental","symptoms","in","10","cases","pediatr","dermato","2022","39","590","3"],"id":"CLDN1-sEDD-NISCH"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"Renal dysfunction, electrolyte imbalances, polydipsia, polyuria; alacrima, xerostomia, severe enamel wear.","category":"sEDD","fullReference":"Hadj-Rabia S, Brideau G, Al-Sarraj Y et al. Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome. 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Neonatal presentation of COG6-CDG with prominent skin phenotype. JIMD Rep 2020; 55:51-8.","gene":"COG6","gene_lowercase":"cog6","imageUrl":"","inheritance":"AR","keyClinicalClues":"Scaling and thickening, erosions, hypohidrosis.","newName":"COG6-sEDD-CDG","onset":"Birth","pathway":"Glycosylation","previousName":"Congenital disorder of glycosylation, type IIL","references":"Komlosi (2020)","searchKeywords":["cog6","sedd","cdg","congenital","disorder","of","glycosylation","type","iil","scaling","and","thickening","erosions","hypohidrosis","growth","developmental","retardation","microcephaly","hepatomegaly","recurrent","infections","komlosi","k","gl","ser","s","kopp","j","et","al","neonatal","presentation","with","prominent","skin","phenotype","jimd","rep","2020","55","51","8"],"id":"COG6-sEDD-CDG"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Guo BR, Zhang X, Chen G et al. Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. J Med Genet 2012; 49:563-8.","gene":"COL14A1","gene_lowercase":"col14a1","imageUrl":"","inheritance":"AD","keyClinicalClues":"Palmoplantar punctate papules sometimes coalescing into plaques.","newName":"COL14A1-pEDD","onset":"Childhood/adult","pathway":"Structural Proteins","previousName":"Punctate PPK type IB (PPPK IB)","references":"Guo (2012)","searchKeywords":["col14a1","pedd","punctate","ppk","type","ib","pppk","structural","proteins","palmoplantar","papules","sometimes","coalescing","into","plaques","guo","br","zhang","x","chen","g","et","al","exome","sequencing","identifies","a","mutation","in","large","chinese","pedigree","with","keratoderma","j","med","genet","2012","49","563","8"],"id":"COL14A1-pEDD"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"Blepharitis, photophobia.","category":"sEDD","fullReference":"Bellon N, Hadj-Rabia S, Moulin F et al. The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations. Br J Dermatol 2021; 184:532-7. || Prodinger C, Yerlett N, MacDonald C et al. Characteristics of children with Netherton syndrome: a review of 21 patients. J Eur Acad Dermatol Venereol 2021; 35:e466-9. || van den Bogaard EHJ, van Geel M, van Vlijmen-Willems IMJJ et al. Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin. Genet Med 2019; 21:1559-67.","gene":"CST6","gene_lowercase":"cst6","imageUrl":"","inheritance":"AR","keyClinicalClues":"Generalized fine scaling; PPK; variable hypotrichosis; hypohidrosis.","newName":"CST6-sEDD","onset":"Birth","pathway":"Enzymes","previousName":"Ectodermal dysplasia 15, hypohidrotic/hair type","references":"Bellon (2021), Prodinger (2021), van den Bogaard (2019)","searchKeywords":["cst6","sedd","ectodermal","dysplasia","15","hypohidrotic","hair","type","enzymes","generalized","fine","scaling","ppk","variable","hypotrichosis","hypohidrosis","blepharitis","photophobia","bellon","n","hadj","rabia","s","moulin","f","et","al","the","challenging","management","of","a","series","43","infants","with","netherton","syndrome","unexpected","complications","and","novel","mutations","br","j","dermatol","2021","184","532","7","prodinger","c","yerlett","macdonald","characteristics","children","review","21","patients","eur","acad","venereol","35","e466","9","van","den","bogaard","ehj","geel","m","vlijmen","willems","imjj","deficiency","human","cysteine","protease","inhibitor","cystatin","e","causes","dry","skin","genet","med","2019","1559","67"],"id":"CST6-sEDD"},{"additionalCutaneousFeatures":"Pruritus; variable hypohidrosis.","additionalExtracutaneousFeatures":"Conjunctivitis, cataract.","category":"sEDD","fullReference":"Eckl KM, Gruber R, Brennan L et al. Cystatin M/E variant causes autosomal dominant keratosis follicularis spinulosa decalvans by dysregulating cathepsins L and V. 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Mutations in CSTA, encoding cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion. Am J Hum Genet 2011; 89:564-71.","gene":"CSTA","gene_lowercase":"csta","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s9_g.jpeg","inheritance":"AR","keyClinicalClues":"Generalized or acral superficial skin peeling without erythema, rare reports of erythroderma at birth.","newName":"CSTA-nEDD","onset":"Infancy","pathway":"Structural proteins","photoCaption":"CSTA-nEDD: superficial peeling of the skin and erythema on the dorsum of the foot.","photos":[{"caption":"CSTA-nEDD: superficial peeling of the skin and erythema on the dorsum of the foot.","figure":"Figure 2","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"g","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s9_g.jpeg"}],"previousName":"Peeling skin syndrome","references":"Blaydon (2011)","searchKeywords":["csta","nedd","peeling","skin","syndrome","structural","proteins","generalized","or","acral","superficial","without","erythema","rare","reports","of","erythroderma","at","birth","blaydon","dc","nitoiu","d","eckl","k","m","et","al","mutations","in","encoding","cystatin","a","underlie","exfoliative","ichthyosis","and","reveal","role","for","this","protease","inhibitor","cell","adhesion","am","j","hum","genet","2011","89","564","71"],"id":"CSTA-nEDD"},{"additionalCutaneousFeatures":"Recurrent episodes of palmoplantar erythema and centrifugal epidermal peeling, sometimes associated with slowly migratory, annular erythema over extremities","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Ngcungcu T, Oti M, Sitek JC et al. Duplicated enhancer region increases expression of CTSB and segregates with keratolytic winter erythema in South African and Norwegian families. Am J Hum Genet 2017; 100:737-50.","gene":"CTSB","gene_lowercase":"ctsb","imageUrl":"","inheritance":"AD","keyClinicalClues":"Recurrent palmoplantar erythema and centrifugal peeling, triggered by cold/stress.","newName":"CTSB-pEDD","onset":"Childhood","pathway":"Enzymes and their inhibitors","previousName":"Keratolytic winter erythema","references":"Ngcungcu (2017)","searchKeywords":["ctsb","pedd","keratolytic","winter","erythema","enzymes","and","their","inhibitors","recurrent","palmoplantar","centrifugal","peeling","triggered","by","cold","stress","episodes","of","epidermal","sometimes","associated","with","slowly","migratory","annular","over","extremities","ngcungcu","t","oti","m","sitek","jc","et","al","duplicated","enhancer","region","increases","expression","segregates","in","south","african","norwegian","families","am","j","hum","genet","2017","100","737","50"],"id":"CTSB-pEDD"},{"additionalCutaneousFeatures":"Erythematous PPK, sometimes associated with circumscribed plaques on the extensor limbs","additionalExtracutaneousFeatures":"loss of dentition around age 4-5 years due to severe periodontitis, predisposition to pyogenic abscesses, calcification of the dura and choroid plexus","category":"pEDD","fullReference":"Toomes C, James J, Wood AJ et al. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. 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Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C. J Med Genet 2000; 37:88-94.","gene":"CTSC","gene_lowercase":"ctsc","imageUrl":"","inheritance":"AR","keyClinicalClues":"Similar to CTSC-pEDD, with arachnodactyly.","newName":"CTSC-pEDD-arachnodactyly","onset":"Infancy","pathway":"Enzymes and their inhibitors","previousName":"Haim-Munk syndrome","references":"Hart (2000)","searchKeywords":["ctsc","pedd","arachnodactyly","haim","munk","syndrome","enzymes","and","their","inhibitors","similar","to","with","erythematous","ppk","extensor","limb","plaques","loss","of","dentition","age","4","5","due","periodontitis","pyogenic","abscesses","hart","tc","ps","michalec","md","et","al","papillon","lef","vre","are","allelic","mutations","in","cathepsin","c","j","med","genet","2000","37","88","94"],"id":"CTSC-pEDD-arachnodactyly"},{"additionalCutaneousFeatures":"aquagenic","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Malovitski K, Sarig O, Feller Y et al. Defective cathepsin Z affects EGFR expression and causes autosomal dominant palmoplantar keratoderma. Br J Dermatol 2023; 189:302-11.","gene":"CTSZ","gene_lowercase":"ctsz","imageUrl":"","inheritance":"AD","keyClinicalClues":"Focal plantar keratoderma with minimal palmar involvement, aquagenic.","newName":"CTSZ-pEDD","onset":"Late childhood","pathway":"Enzymes and their inhibitors","previousName":"NA","references":"Malovitski (2023)","searchKeywords":["ctsz","pedd","na","enzymes","and","their","inhibitors","focal","plantar","keratoderma","with","minimal","palmar","involvement","aquagenic","malovitski","k","sarig","o","feller","y","et","al","defective","cathepsin","z","affects","egfr","expression","causes","autosomal","dominant","palmoplantar","br","j","dermatol","2023","189","302","11"],"id":"CTSZ-pEDD"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Lefèvre C, Bouadjar B, Ferrand V et al. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum Mol Genet 2006; 15:767-76. || Noguera-Morel L, Feito-Rodríguez M, Maldonado-Cid P et al. Two cases of autosomal recessive congenital ichthyosis due to CYP4F22 mutations: expanding the genotype of self-healing collodion baby. Pediatr Dermatol 2016; 33:e48-51.","gene":"CYP4F22","gene_lowercase":"cyp4f22","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_f.jpeg","inheritance":"AR","keyClinicalClues":"Generalized mild scaling, but some cases are severe, can present with collodion membranes, sometimes self-improving.","newName":"CYP4F22-nEDD","onset":"Birth","pathway":"Lipid synthesis and transport","photoCaption":"CYP4F22-nEDD: skin thickening and scaling on the dorsum of the hand.","photos":[{"caption":"CYP4F22-nEDD: skin thickening and scaling on the dorsum of the hand.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"f","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_f.jpeg"},{"caption":"CYP4F22-nEDD (mild involvement): skin thickening on the dorsal hands, with sparing of the trunk.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"e","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_e.jpeg"}],"previousName":"Lamellar ichthyosis, CIE, ARCI","references":"Lefèvre (2006), Noguera-Morel (2016)","searchKeywords":["cyp4f22","nedd","lamellar","ichthyosis","cie","arci","lipid","synthesis","and","transport","generalized","mild","scaling","but","some","cases","are","severe","can","present","with","collodion","membranes","sometimes","self","improving","lef","vre","c","bouadjar","b","ferrand","v","et","al","mutations","in","a","new","cytochrome","p450","gene","type","3","hum","mol","genet","2006","15","767","76","noguera","morel","l","feito","rodr","guez","m","maldonado","cid","p","two","of","autosomal","recessive","congenital","due","to","expanding","the","genotype","healing","baby","pediatr","dermatol","2016","33","e48","51"],"id":"CYP4F22-nEDD"},{"additionalCutaneousFeatures":"Often with collodion membrane; Hypotrichosis.","additionalExtracutaneousFeatures":"Failure to thrive, microcephaly, dilated cardiomyopathy, digital constrictions/arthrogryposis, coagulation defects; death during first months.","category":"sEDD","fullReference":"Kranz C, Jungeblut C, Denecke J et al. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. Am J Hum Genet 2007; 80:433-40. || Komlosi K, Claris O, Collardeau-Frachon S et al. Fatal neonatal DOLK-CDG as a rare form of syndromic ichthyosis. Front Genet 2021; 12:719624.","gene":"DOLK","gene_lowercase":"dolk","imageUrl":"","inheritance":"AR","keyClinicalClues":"Scaling onset soon after birth; sparse hair, neurological features sometimes dilated cardiomyopathy.","newName":"DOLK-sEDD-CDG","onset":"Birth","pathway":"Glycosylation","previousName":"Congenital disorder of glycosylation, type Im (CDG1M)","references":"Kranz (2007), Komlosi (2021)","searchKeywords":["dolk","sedd","cdg","congenital","disorder","of","glycosylation","type","im","cdg1m","scaling","onset","soon","after","birth","sparse","hair","neurological","features","sometimes","dilated","cardiomyopathy","often","with","collodion","membrane","hypotrichosis","failure","to","thrive","microcephaly","digital","constrictions","arthrogryposis","coagulation","defects","death","during","first","months","kranz","c","jungeblut","denecke","j","et","al","a","defect","in","dolichol","phosphate","biosynthesis","causes","new","inherited","early","infancy","am","hum","genet","2007","80","433","40","komlosi","k","claris","o","collardeau","frachon","s","fatal","neonatal","as","rare","form","syndromic","ichthyosis","front","2021","12","719624"],"id":"DOLK-sEDD-CDG"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Keren H, Bergman R, Mizrachi M et al. Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1. Arch Dermatol 2005; 141:625-8. | Rickman L, Simrak D, Stevens HP et al. N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet 1999; 8:971-6. | Milingou M, Wood P, Masouye I et al. Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene. Dermatology 2006; 212:117-22.","gene":"DSG1","gene_lowercase":"dsg1","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s2_f.jpeg","inheritance":"AD","keyClinicalClues":"Focal/diffuse or striate keratoderma, not painful.","newName":"DSG1-pEDD","onset":"Childhood","pathway":"Structural Proteins","photoCaption":"DSG1-pEDD: striate keratoderma on the palm.","photos":[{"caption":"DSG1-pEDD: striate keratoderma on the palm.","figure":"Figure 1","figureUrl":"https://doi.org/10.1093/bjd/ljaf054","panel":"f","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s2_f.jpeg"}],"previousName":"Striate PPK I","references":"Keren (2005), Rickman (1999), Milingou (2006)","searchKeywords":["dsg1","pedd","striate","ppk","i","structural","proteins","focal","diffuse","or","keratoderma","not","painful","keren","h","bergman","r","mizrachi","m","et","al","nonepidermolytic","palmoplantar","caused","by","a","recurrent","nonsense","mutation","in","arch","dermatol","2005","141","625","8","rickman","l","simrak","d","stevens","hp","n","terminal","deletion","desmosomal","cadherin","causes","the","autosomal","dominant","skin","disease","hum","mol","genet","1999","971","6","milingou","wood","p","masouye","an","inherited","desmoglein","1","gene","dermatology","2006","212","117","22"],"id":"DSG1-pEDD"},{"additionalCutaneousFeatures":"PPK may be striate.","additionalExtracutaneousFeatures":"Failure to thrive; high IgE levels; allergies; recurrent respiratory infections.","category":"sEDD","fullReference":"Polivka L, Hadj-Rabia S, Bal E et al. Epithelial barrier dysfunction in desmoglein-1 deficiency. J Allergy Clin Immunol 2018; 142:702-6. || Samuelov L, Sarig O, Harmon RM et al. Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. Nat Genet 2013; 45:1244-8.","gene":"DSG1","gene_lowercase":"dsg1","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s6_d.jpeg","inheritance":"AR","keyClinicalClues":"Erythroderma with thickened, fragile skin; PPK; recurrent skin infections.","newName":"DSG1-sEDD","onset":"Birth","pathway":"Structural proteins","photoCaption":"DSG1-sEDD: superficial desquamation revealing underlying erythema on the legs of a young girl.","photos":[{"caption":"DSG1-sEDD: superficial desquamation revealing underlying erythema on the legs of a young girl.","figure":"Figure 2","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"d","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s6_d.jpeg"},{"caption":"DSG1-sEDD: severe yellow-coloured focal keratoderma of the plantar surface on the foot, predominantly at areas of pressure.","figure":"Figure 2","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"e","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s6_e.jpeg"},{"caption":"DSG1-sEDD: generalized erythroderma with desquamative scaling and focal areas of skin peeling. Note the gastrostomy tube to manage this infant’s failure to thrive.","figure":"Figure 2","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"f","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s6_f.jpeg"}],"previousName":"Severe dermatitis, allergic reactions, metabolic wasting (SAM syndrome)","references":"Polivka (2018), Samuelov (2013)","searchKeywords":["dsg1","sedd","severe","dermatitis","allergic","reactions","metabolic","wasting","sam","syndrome","structural","proteins","erythroderma","with","thickened","fragile","skin","ppk","recurrent","infections","may","be","striate","failure","to","thrive","high","ige","levels","allergies","respiratory","sc","injection","of","biologics","targeting","il","12","23","or","17a","hern","ndez","martin","2019","godsel","2022","polivka","l","hadj","rabia","s","bal","e","et","al","epithelial","barrier","dysfunction","in","desmoglein","1","deficiency","j","allergy","clin","immunol","2018","142","702","6","samuelov","sarig","o","harmon","rm","results","multiple","and","nat","genet","2013","45","1244","8"],"treatment":"SC injection of biologics targeting IL-12/IL-23 or IL-17A (Hernández-Martin, 2019; Godsel, 2022).","id":"DSG1-sEDD"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Armstrong DK, McKenna KE, Purkis PE et al. Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet 1999; 8:143-8.","gene":"DSP","gene_lowercase":"dsp","imageUrl":"","inheritance":"AD","keyClinicalClues":"Striate palmar keratoderma, focal plantar keratoderma.","newName":"DSP-pEDD","onset":"Childhood","pathway":"Structural Proteins","previousName":"Striate PPK 2","references":"Armstrong (1999)","searchKeywords":["dsp","pedd","striate","ppk","2","structural","proteins","palmar","keratoderma","focal","plantar","armstrong","dk","mckenna","ke","purkis","pe","et","al","haploinsufficiency","of","desmoplakin","causes","a","subtype","palmoplantar","hum","mol","genet","1999","8","143"],"id":"DSP-pEDD"},{"additionalCutaneousFeatures":"Woolly hair, striate keratoderma","additionalExtracutaneousFeatures":"LV arrhythmogenic cardiomyopathy, abnormal dentition","category":"pEDD","fullReference":"Norgett EE, Hatsell SJ, Carvajal-Huerta L et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 2000; 9:2761-6.","gene":"DSP","gene_lowercase":"dsp","imageUrl":"","inheritance":"AD/AR","keyClinicalClues":"Woolly hair, striate keratoderma, LV arrhythmogenic cardiomyopathy.","newName":"DSP-pEDD-arrhythmogenic cardiomyopathy","onset":"Infancy","pathway":"Structural Proteins","previousName":"Carvajal syndrome","references":"Norgett (2000)","searchKeywords":["dsp","pedd","arrhythmogenic","cardiomyopathy","carvajal","syndrome","structural","proteins","woolly","hair","striate","keratoderma","lv","abnormal","dentition","norgett","ee","hatsell","sj","huerta","l","et","al","recessive","mutation","in","desmoplakin","disrupts","intermediate","filament","interactions","and","causes","dilated","hum","mol","genet","2000","9","2761","6"],"id":"DSP-pEDD-arrhythmogenic cardiomyopathy"},{"additionalCutaneousFeatures":"Woolly hair, striate keratoderma","additionalExtracutaneousFeatures":"abnormal dentition, LV arrhythmogenic cardiomyopathy","category":"pEDD","fullReference":"Chalabreysse L, Senni F, Bruyere P et al. A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations. J Dent Res 2011: 90:58-64.","gene":"DSP","gene_lowercase":"dsp","imageUrl":"","inheritance":"AD/AR","keyClinicalClues":"Woolly hair, abnormal dentition, striate keratoderma, LV arrhythmogenic cardiomyopathy.","newName":"DSP-pEDD-arrhythmogenic cardiomyopathy with woolly hair and tooth agenesis","onset":"Infancy","pathway":"Structural Proteins","previousName":"Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis","references":"Chalabreysse (2011)","searchKeywords":["dsp","pedd","arrhythmogenic","cardiomyopathy","with","woolly","hair","and","tooth","agenesis","dilated","keratoderma","structural","proteins","abnormal","dentition","striate","lv","chalabreysse","l","senni","f","bruyere","p","et","al","a","new","hypo","oligodontia","syndrome","carvajal","naxos","secondary","to","desmoplakin","dominant","mutations","j","dent","res","2011","90","58","64"],"id":"DSP-pEDD-arrhythmogenic cardiomyopathy with woolly hair and tooth agenesis"},{"additionalCutaneousFeatures":"Generalized erythema with skin thickening and fine white scaling; PPK may be striate with variable blistering keratoses on knees/elbows; pruritus; pustular flares; woolly, sparse-to-absent hair, nail dystrophy.","additionalExtracutaneousFeatures":"Cardiomyopathy/arrhythmias; dental enamel anomalies; failure to thrive; developmental delay; occasional corneal opacities.","category":"sEDD","fullReference":"Boyden LM, Kam CY, Hernández-Martin A et al. Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. Hum Mol Genet 2016; 25:348-57. || Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol 1998; 39:418-21. || Polivka L, Bodemer C, Hadj-Rabia S. Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases. J Med Genet 2016; 53:289-95. || Sun Q, Wine Lee L, Hall EK et al. Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes. Pediatr Dermatol 2021; 38:31-8.","gene":"DSP","gene_lowercase":"dsp","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s6_a.jpeg","inheritance":"AR, AD","keyClinicalClues":"Generalized erythema with skin thickening; striate PPK; woolly, sparse-to-absent hair.","newName":"DSP-sEDD-cardiomyopathy","onset":"Birth to early childhood","pathway":"Structural proteins","photoCaption":"DSP-sEDD: severe erythema and diffuse yellowish thickened skin on all extremities with thickened and dystrophic fingernails.","photos":[{"caption":"DSP-sEDD: severe erythema and diffuse yellowish thickened skin on all extremities with thickened and dystrophic fingernails.","figure":"Figure 2","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"a","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s6_a.jpeg"},{"caption":"DSP-sEDD: sparse, brittle hair with scalp erythema and desquamation.","figure":"Figure 2","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"b","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s6_b.jpeg"},{"caption":"DSP-sEDD: blisters on the outer edge of the heel and mild keratoderma of the sole (courtesy of Dr Armine Adilkhanyan and Dr Tarevik Harutyunyan, Arabkir Medical Center, Yerevan, Armenia).","figure":"Figure 2","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"c","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s6_c.jpeg"}],"previousName":"Erythrokeratodermia-cardiomyopathy syndrome (EKC); Carvajal syndrome","references":"Boyden (2016), Carvajal-Huerta (1998), Polivka (2016), Sun (2021)","searchKeywords":["dsp","sedd","cardiomyopathy","erythrokeratodermia","syndrome","ekc","carvajal","structural","proteins","generalized","erythema","with","skin","thickening","striate","ppk","woolly","sparse","to","absent","hair","and","fine","white","scaling","may","be","variable","blistering","keratoses","on","knees","elbows","pruritus","pustular","flares","nail","dystrophy","arrhythmias","dental","enamel","anomalies","failure","thrive","developmental","delay","occasional","corneal","opacities","sc","injection","of","biologics","targeting","il","12","23","has","reversed","paller","2018","sun","2021","boyden","lm","kam","cy","hern","ndez","martin","a","et","al","dominant","de","novo","mutations","cause","hum","mol","genet","2016","25","348","57","huerta","l","epidermolytic","palmoplantar","keratoderma","dilated","j","am","acad","dermatol","1998","39","418","21","polivka","bodemer","c","hadj","rabia","s","combination","shaft","the","warning","signal","severe","arrhythmogenic","systematic","review","genetic","desmosomal","diseases","med","53","289","95","q","wine","lee","hall","ek","predict","cardiomyopathies","syndromes","pediatr","38","31","8"],"treatment":"SC injection of biologics targeting IL-12/IL-23 (has reversed cardiomyopathy) (Paller, 2018; Sun, 2021).","id":"DSP-sEDD-cardiomyopathy"},{"additionalCutaneousFeatures":"Partial collodion membrane or generalized scaly erythroderma. Spontaneous improvement during first month, leaving linear and whorled patterns of scale, erythroderma, follicular atrophoderma along lines of Blaschko; variable PPK and nail dystrophy, cicatricial alopecia also along lines of Blaschko.","additionalExtracutaneousFeatures":"Punctiform calcification of the bones (epsecially early in life); often shortened proximal bones, saddle nose deformity and other bone abnormalities, including short stature; cataracts and corneal opacity.","category":"sEDD","fullReference":"Pacault M, Vincent M, Besnard T et al. New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome. Eur J Hum Genet 2018; 26:1784-90. || Sutphen R, Amar MJ, Kousseff BG, Toomey KE. XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome). Am J Med Genet 1995; 57:489-92. || Horinouchi T, Morisada N, Uemura H et al. Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation. Am J Med Genet A 2019; 179:1315-18. || Furtado LV, Bayrak-Toydemir P, Hulinsky B et al. A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. Am J Med Genet A 2010 152A:2838-44. || Cañueto J, Girós M, Ciria S et al. Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature. Br J Dermatol 2012; 166:830-8.","gene":"EBP","gene_lowercase":"ebp","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s4_h.jpeg","inheritance":"XLD","keyClinicalClues":"Congenital generalized scaling and erythroderma; evolves to blaschoid pattern with follicular atrophoderma.","newName":"EBP-sEDD","onset":"Birth","pathway":"Lipid synthesis and transport","photoCaption":"EBP-sEDD: newborn girl presenting with thick scaling along the Blaschko lines overlying truncal erythema.","photos":[{"caption":"EBP-sEDD: newborn girl presenting with thick scaling along the Blaschko lines overlying truncal erythema.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"h","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s4_h.jpeg"},{"caption":"EBP-sEDD: follicular atrophoderma.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"i","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s4_i.jpeg"},{"caption":"EBP-sEDD: localized scarring alopecia on the scalp of a young girl.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"j","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s4_j.jpeg"}],"previousName":"Chondrodysplasia punctata, X-linked dominant (CDPX2); Conradi-Hünermann-Happle syndrome","references":"Pucault (2018), Sutphen (1995), Horinouchi (2019), Furtado (2010), Cañueto (2012)","searchKeywords":["ebp","sedd","chondrodysplasia","punctata","x","linked","dominant","cdpx2","conradi","h","nermann","happle","syndrome","lipid","synthesis","and","transport","congenital","generalized","scaling","erythroderma","evolves","to","blaschoid","pattern","with","follicular","atrophoderma","partial","collodion","membrane","or","scaly","spontaneous","improvement","during","first","month","leaving","linear","whorled","patterns","of","scale","along","lines","blaschko","variable","ppk","nail","dystrophy","cicatricial","alopecia","also","punctiform","calcification","the","bones","epsecially","early","in","life","often","shortened","proximal","saddle","nose","deformity","other","bone","abnormalities","including","short","stature","cataracts","corneal","opacity","possibly","effective","topical","combination","statin","cholesterol","based","on","paller","2011","pacault","m","vincent","besnard","t","et","al","new","splicing","pathogenic","variant","causing","extreme","familial","variability","eur","j","hum","genet","2018","26","1784","90","sutphen","r","amar","mj","kousseff","bg","toomey","ke","xxy","male","am","med","1995","57","489","92","horinouchi","morisada","n","uemura","patient","mosaicism","asymmetrically","lateralized","skin","lesions","strict","midline","demarcation","a","2019","179","1315","18","furtado","lv","bayrak","toydemir","p","hulinsky","b","novel","multiple","anomaly","associated","an","mutation","2010","152a","2838","44","ca","ueto","gir","s","ciria","clinical","molecular","biochemical","characterization","nine","spanish","families","insights","into","comprehensive","review","literature","br","dermatol","2012","166","830","8","pucault"],"treatment":"Possibly effective: Topical combination of statin and cholesterol (based on Paller, 2011).","id":"EBP-sEDD"},{"additionalCutaneousFeatures":"Generally thickened skin + lichenification, especially over joints; may have patchy, symmetric, migratory erythematous plaques.","additionalExtracutaneousFeatures":"Spastic paraplegia, central nystagmus, high-frequency hearing loss, optic atrophy, mild facial dysmorphism.","category":"sEDD","fullReference":"Kutkowska-Kaźmierczak A, Rydzanicz M, Chlebowski A et al. Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features. J Med Genet 2018; 55:408-14. || Mueller N, Sassa T, Morales-Gonzalez S et al. De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy. J Med Genet 2019; 56:164-75. || Takahashi T, Mercan S, Sassa T et al. Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1. Brain Dev 2022; 44:391-400.","gene":"ELOVL1","gene_lowercase":"elovl1","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_i.jpeg","inheritance":"AR,AD","keyClinicalClues":"Lichenified plaques; spastic paraplegia.","newName":"ELOVL1-sEDD","onset":"Birth","pathway":"Lipid synthesis and transport","photoCaption":"ELOVL1-sEDD: young girl with pruritic erythrodermic and scaling skin related to a heterozygous ELOVL1 c.494C > T (p.Ser165Phe) pathogenic variant (autosomal dominant).","photos":[{"caption":"ELOVL1-sEDD: young girl with pruritic erythrodermic and scaling skin related to a heterozygous ELOVL1 c.494C > T (p.Ser165Phe) pathogenic variant (autosomal dominant).","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"i","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_i.jpeg"}],"previousName":"Ichthyotic keratoderma-spastic paraplegia-hypomyelination-dysmorphic facies (IKSHD)","references":"Kutkowska-Kaźmierczak (2018), Mueller (2019), Takahashi (2022)","searchKeywords":["elovl1","sedd","ichthyotic","keratoderma","spastic","paraplegia","hypomyelination","dysmorphic","facies","ikshd","lipid","synthesis","and","transport","lichenified","plaques","generally","thickened","skin","lichenification","especially","over","joints","may","have","patchy","symmetric","migratory","erythematous","central","nystagmus","high","frequency","hearing","loss","optic","atrophy","mild","facial","dysmorphism","kutkowska","ka","mierczak","a","rydzanicz","m","chlebowski","et","al","dominant","mutation","causes","neurological","disorder","with","spasticity","features","j","med","genet","2018","55","408","14","mueller","n","sassa","t","morales","gonzalez","s","de","novo","in","ichthyosis","acanthosis","nigricans","deafness","2019","56","164","75","takahashi","mercan","hypomyelinating","dyskinesia","caused","by","homozygous","splice","site","leading","to","exon","skipping","brain","dev","2022","44","391","400"],"id":"ELOVL1-sEDD"},{"additionalCutaneousFeatures":"Later: Thick dry, nonpruritic scaling skin.","additionalExtracutaneousFeatures":"Spastic di- or quadriplegia, seizures, hypertonia, contractures; intellectual and developmental delay; optic atrophy and failure to track; failure to thrive; death during infancy.","category":"sEDD","fullReference":"Aldahmesh MA, Mohamed JY, Alkuraya HS et al. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet 2011; 89:745-50. || Vasireddy V, Uchida Y, Salem N et al. Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death. Hum Mol Genet 2007; 16:471-82.","gene":"ELOVL4","gene_lowercase":"elovl4","imageUrl":"","inheritance":"AR","keyClinicalClues":"Collodion membrane or generalized erythema with scaling.","newName":"ELOVL4-sEDD","onset":"Birth","pathway":"Lipid synthesis and transport","previousName":"Ichthyosis, spastic quadriplegia and mental retardation (ISQMR)","references":"Aldahmesh (2011), Vasireddy (2007)","searchKeywords":["elovl4","sedd","ichthyosis","spastic","quadriplegia","and","mental","retardation","isqmr","lipid","synthesis","transport","collodion","membrane","or","generalized","erythema","with","scaling","later","thick","dry","nonpruritic","skin","di","seizures","hypertonia","contractures","intellectual","developmental","delay","optic","atrophy","failure","to","track","thrive","death","during","infancy","aldahmesh","ma","mohamed","jy","alkuraya","hs","et","al","recessive","mutations","in","cause","disability","am","j","hum","genet","2011","89","745","50","vasireddy","v","uchida","y","salem","n","loss","of","functional","depletes","very","long","chain","fatty","acids","c28","the","unique","omega","o","acylceramides","leading","neonatal","mol","2007","16","471","82"],"id":"ELOVL4-sEDD"},{"additionalCutaneousFeatures":"Fixed or migratory erythrokeratodermatous plaques, especially on extremities; improve in warmer, more humid weather, may clear during adulthood.","additionalExtracutaneousFeatures":"Spinocerebellar ataxia begins in adolescence to adulthood and is progressive; nystagmus, dysarthria.","category":"sEDD","fullReference":"Cadieux-Dion M, Turcotte-Gauthier M, Noreau A et al. Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. JAMA Neurol 2014; 71:470-5.","gene":"ELOVL4","gene_lowercase":"elovl4","imageUrl":"","inheritance":"AD","keyClinicalClues":"Erythrokerodermatous plaques on extremities; cerebellar ataxia late in onset.","newName":"ELOVL4-sEDD-late-onset ataxia","onset":"Infancy to adolescence","pathway":"Lipid synthesis and transport","previousName":"Spinocerebellar ataxia 34 (SCA34)","references":"Cadieux-Dion (2014)","searchKeywords":["elovl4","sedd","late","onset","ataxia","spinocerebellar","34","sca34","lipid","synthesis","and","transport","erythrokerodermatous","plaques","on","extremities","cerebellar","in","fixed","or","migratory","erythrokeratodermatous","especially","improve","warmer","more","humid","weather","may","clear","during","adulthood","begins","adolescence","to","is","progressive","nystagmus","dysarthria","cadieux","dion","m","turcotte","gauthier","noreau","a","et","al","expanding","the","clinical","phenotype","associated","with","mutation","study","of","large","french","canadian","family","autosomal","dominant","erythrokeratodermia","jama","neurol","2014","71","470","5"],"id":"ELOVL4-sEDD-late-onset ataxia"},{"additionalCutaneousFeatures":"hypopigmented macules","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Eytan O, Morice-Picard F, Sarig O et al. Cole disease results from mutations in ENPP1. Am J Hum Genet 2013; 93:752-7.","gene":"ENPP1","gene_lowercase":"enpp1","imageUrl":"","inheritance":"AD, AR","keyClinicalClues":"Early-onset punctate PPK associated with hypopigmented macules.","newName":"ENPP1-pEDD","onset":"Early childhood","pathway":"Enzymes and their inhibitors","previousName":"Cole disease","references":"Eytan (2013)","searchKeywords":["enpp1","pedd","cole","disease","enzymes","and","their","inhibitors","early","onset","punctate","ppk","associated","with","hypopigmented","macules","eytan","o","morice","picard","f","sarig","et","al","results","from","mutations","in","am","j","hum","genet","2013","93","752","7"],"id":"ENPP1-pEDD"},{"additionalCutaneousFeatures":"Often born with a collodion membrane; may have tufted hair. Later: Generalized, typically mild, fine-to-polygonal scaling. Thin brittle hair with trichoschisis and tiger tail banding (polarized light); occasional nail dystrophy, PPK, prominent cheilitis; NMSC may develop.","additionalExtracutaneousFeatures":"Failure to thrive, low birthweight, short stature; developmental and speech delay, hearing loss; dysmorphic facies, microcephaly; abnormal teeth; recurrent infections. (TTD group features).","category":"sEDD","fullReference":"Morice-Picard F, Cario-André M, Rezvani H et al. New clinico-genetic classification of trichothiodystrophy. Am J Med Genet A 2009 149A:2020-30.","gene":"ERCC2/XPD","gene_lowercase":"ercc2/xpd","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_a.jpeg","inheritance":"AR","keyClinicalClues":"Photosensitivity; fine scaling; receding chin; sparse hair, tiger tail banding.","newName":"ERCC2/XPD-sEDD-TTD","onset":"Birth","pathway":"DNA repair","photoCaption":"sEDD-TTD (unspecified-sEDD-TTD): large brown scaling on the leg of a young boy.","photos":[{"caption":"sEDD-TTD (unspecified-sEDD-TTD): large brown scaling on the leg of a young boy.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"a","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_a.jpeg"},{"caption":"sEDD-TTD (unspecified-sEDD-TTD): sparse and brittle hair in a young child.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"b","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_b.jpeg"},{"caption":"sEDD-TTD (unspecified-sEDD-TTD): the hallmark of TTD is a pattern of light and dark bands (tiger tail banding) seen on the shaft with polarizing microscopy.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"c","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_c.jpeg"}],"previousName":"Trichothiodystrophy 1, photosensitive","references":"Morice-Picard (2009)","searchKeywords":["ercc2","xpd","sedd","ttd","trichothiodystrophy","1","photosensitive","dna","repair","photosensitivity","fine","scaling","receding","chin","sparse","hair","tiger","tail","banding","often","born","with","a","collodion","membrane","may","have","tufted","later","generalized","typically","mild","to","polygonal","thin","brittle","trichoschisis","and","polarized","light","occasional","nail","dystrophy","ppk","prominent","cheilitis","nmsc","develop","failure","thrive","low","birthweight","short","stature","developmental","speech","delay","hearing","loss","dysmorphic","facies","microcephaly","abnormal","teeth","recurrent","infections","group","features","morice","picard","f","cario","andr","m","rezvani","h","et","al","new","clinico","genetic","classification","of","am","j","med","genet","2009","149a","2020","30"],"id":"ERCC2-XPD-sEDD-TTD"},{"additionalCutaneousFeatures":"Often born with a collodion membrane; may have tufted hair. Later: Generalized, typically mild, fine-to-polygonal scaling. Thin brittle hair with trichoschisis and tiger tail banding (polarized light); occasional nail dystrophy, PPK, prominent cheilitis; NMSC may develop.","additionalExtracutaneousFeatures":"See TTD group: Failure to thrive, low birthweight, short stature; developmental and speech delay, hearing loss; dysmorphic facies, microcephaly; abnormal teeth; recurrent infections.","category":"sEDD","fullReference":"Morice-Picard F, Cario-André M, Rezvani H et al. New clinico-genetic classification of trichothiodystrophy. Am J Med Genet A 2009 149A:2020-30.","gene":"ERCC3/XPB","gene_lowercase":"ercc3/xpb","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_b.jpeg","inheritance":"AR","keyClinicalClues":"Photosensitivity; Tiger tail banding with polarized light.","newName":"ERCC3/XPB-sEDD-TTD","onset":"Birth","pathway":"DNA repair","photoCaption":"sEDD-TTD (unspecified-sEDD-TTD): sparse and brittle hair in a young child.","photos":[{"caption":"sEDD-TTD (unspecified-sEDD-TTD): sparse and brittle hair in a young child.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"b","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_b.jpeg"},{"caption":"sEDD-TTD (unspecified-sEDD-TTD): large brown scaling on the leg of a young boy.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"a","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_a.jpeg"},{"caption":"sEDD-TTD (unspecified-sEDD-TTD): the hallmark of TTD is a pattern of light and dark bands (tiger tail banding) seen on the shaft with polarizing microscopy.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"c","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_c.jpeg"}],"previousName":"Trichothiodystrophy 2, photosensitive","references":"Morice-Picard (2009)","searchKeywords":["ercc3","xpb","sedd","ttd","trichothiodystrophy","2","photosensitive","dna","repair","photosensitivity","tiger","tail","banding","with","polarized","light","often","born","a","collodion","membrane","may","have","tufted","hair","later","generalized","typically","mild","fine","to","polygonal","scaling","thin","brittle","trichoschisis","and","occasional","nail","dystrophy","ppk","prominent","cheilitis","nmsc","develop","see","group","failure","thrive","low","birthweight","short","stature","developmental","speech","delay","hearing","loss","dysmorphic","facies","microcephaly","abnormal","teeth","recurrent","infections","morice","picard","f","cario","andr","m","rezvani","h","et","al","new","clinico","genetic","classification","of","am","j","med","genet","2009","149a","2020","30"],"id":"ERCC3-XPB-sEDD-TTD"},{"additionalCutaneousFeatures":"Verrucous PPK, leuconychia, rapidly growing curly hair","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Maruthappu T, McGinty LA, Blaydon DC et al. Recessive mutation in FAM83G associated with palmoplantar keratoderma and exuberant scalp hair. J Invest Dermatol 2018; 138:984-7. | van Gisbergen MW, Rossel SVJ, Theunissen TEJ et al. Expanding phenotypic insights of palmoplantar keratodermas based on novel FAM83G variants. Br J Dermatol 2025; 192:544-6.","gene":"FAM83G","gene_lowercase":"fam83g","imageUrl":"","inheritance":"AR","keyClinicalClues":"Verrucous PPK, leuconychia with exuberant scalp hair.","newName":"FAM83G-pEDD","onset":"Infancy","pathway":"Signalling molecules","previousName":"PPK, leuconychia with exuberant scalp hair","references":"Maruthappu (2018), van Gisbergen (2025)","searchKeywords":["fam83g","pedd","ppk","leuconychia","with","exuberant","scalp","hair","signalling","molecules","verrucous","rapidly","growing","curly","maruthappu","t","mcginty","la","blaydon","dc","et","al","recessive","mutation","in","associated","palmoplantar","keratoderma","and","j","invest","dermatol","2018","138","984","7","van","gisbergen","mw","rossel","svj","theunissen","tej","expanding","phenotypic","insights","of","keratodermas","based","on","novel","variants","br","2025","192","544","6"],"id":"FAM83G-pEDD"},{"additionalCutaneousFeatures":"Lesions presenting at birth are linear, pink-to-red and scaly; disseminated lesions present in adolescence or later, primarily on sun-exposed areas and featuring round-to-oval flat lesions. Histopathology: Thickening of the stratum corneum with a parakeratotic column, cornoid lamella, at the margin of lesions.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Saito S, Saito Y, Sato S et al. Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis. Am J Hum Genet 2024; 111:896-912.","gene":"FDFT1","gene_lowercase":"fdft1","imageUrl":"","inheritance":"AD","keyClinicalClues":"Lesions with characteristic double-edge scales (cornoid lamella).","newName":"FDFT1-nEDD","onset":"Birth to adolescence","pathway":"Lipid synthesis and transport","previousName":"Porokeratosis, disseminated (superficial) actinic, linear, of Mibelli","references":"Saito (2024)","searchKeywords":["fdft1","nedd","porokeratosis","disseminated","superficial","actinic","linear","of","mibelli","lipid","synthesis","and","transport","lesions","with","characteristic","double","edge","scales","cornoid","lamella","presenting","at","birth","are","pink","to","red","scaly","present","in","adolescence","or","later","primarily","on","sun","exposed","areas","featuring","round","oval","flat","histopathology","thickening","the","stratum","corneum","a","parakeratotic","column","margin","topical","cholesterol","lovastatin","atzmony","2020","paller","2011","saito","s","y","sato","et","al","gene","specific","somatic","epigenetic","mosaicism","underlies","non","hereditary","localized","form","am","j","hum","genet","2024","111","896","912"],"treatment":"Topical cholesterol/lovastatin (Atzmony, 2020; Paller, 2011).","id":"FDFT1-nEDD"},{"additionalCutaneousFeatures":"Lesions presenting at birth are linear, pink-to-red and scaly; disseminated lesions present in adolescence or later, primarily on sun-exposed areas and featuring round-to-oval flat lesions. Histopathology: Thickening of the stratum corneum with a parakeratotic column, cornoid lamella, at the margin of lesions.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Zhang Z, Li C, Wu F et al. Genomic variations of the mevalonate pathway in porokeratosis. Elife 2015; 4:e06322.","gene":"FDPS","gene_lowercase":"fdps","imageUrl":"","inheritance":"AD","keyClinicalClues":"Lesions with characteristic double-edge scales (cornoid lamella).","newName":"FDPS-nEDD","onset":"Birth to adolescence","pathway":"Lipid synthesis and transport","previousName":"Porokeratosis, disseminated (superficial) actinic, linear, of Mibelli","references":"Zhang (2015)","searchKeywords":["fdps","nedd","porokeratosis","disseminated","superficial","actinic","linear","of","mibelli","lipid","synthesis","and","transport","lesions","with","characteristic","double","edge","scales","cornoid","lamella","presenting","at","birth","are","pink","to","red","scaly","present","in","adolescence","or","later","primarily","on","sun","exposed","areas","featuring","round","oval","flat","histopathology","thickening","the","stratum","corneum","a","parakeratotic","column","margin","topical","cholesterol","lovastatin","atzmony","2020","paller","2011","zhang","z","li","c","wu","f","et","al","genomic","variations","mevalonate","pathway","elife","2015","4","e06322"],"treatment":"Topical cholesterol/lovastatin (Atzmony, 2020; Paller, 2011).","id":"FDPS-nEDD"},{"additionalCutaneousFeatures":"Poikiloderma, photosensitivity, skin fragility, pseudosyndactyly","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Siegel DH, Ashton GH, Penagos HG et al. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet 2003 73:174-87.","gene":"FERMT1","gene_lowercase":"fermt1","imageUrl":"","inheritance":"AR","keyClinicalClues":"Poikiloderma, photosensitivity, skin fragility, pseudosyndactyly.","newName":"FERMT1-pEDD-KS","onset":"Infancy","pathway":"Structural Proteins","previousName":"Kindler EB","references":"Siegel (2003)","searchKeywords":["fermt1","pedd","ks","kindler","eb","structural","proteins","poikiloderma","photosensitivity","skin","fragility","pseudosyndactyly","siegel","dh","ashton","gh","penagos","hg","et","al","loss","of","kindlin","1","a","human","homolog","the","caenorhabditis","elegans","actin","extracellular","matrix","linker","protein","unc","112","causes","syndrome","am","j","hum","genet","2003","73","174","87"],"id":"FERMT1-pEDD-KS"},{"additionalCutaneousFeatures":"Histopathology: Absence or thinning of granular layers, follicular plugging.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Smith FJD, Irvine AD, Terron-Kwiatkowski A et al. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 2006; 38:337-42. || Palmer CNA, Irvine AD, Terron-Kwiatkowski A et al. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 2006; 38:441-6.","gene":"FLG","gene_lowercase":"flg","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s9_a.jpeg","inheritance":"AD","keyClinicalClues":"Generalized fine scaling and palmoplantar hyperlinearity, variable keratosis pilaris, atopic diathesis, PPK.","newName":"FLG-nEDD","onset":"Infancy to childhood","pathway":"Structural proteins","photoCaption":"FLG-nEDD: darker polygonal scaling is most pronounced on the lower leg in this patient with skin of colour.","photos":[{"caption":"FLG-nEDD: darker polygonal scaling is most pronounced on the lower leg in this patient with skin of colour.","figure":"Figure 2","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"a","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s9_a.jpeg"},{"caption":"FLG-nEDD: generalized fine scaling on the anterior aspect of the leg, which may appear slightly greyish on darker skin.","figure":"Figure 2","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"b","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s9_b.jpeg"},{"caption":"FLG-nEDD: keratosis pilaris. Folliculocentric keratotic papules on the outer aspect of the upper arm, frequently seen in patients with this disorder.","figure":"Figure 2","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"c","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s9_c.jpeg"},{"caption":"FLG-nEDD: palmoplantar hyperlinearity. Fine wrinkling (excessive skin lines) on the soles of the feet.","figure":"Figure 2","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"d","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s9_d.jpeg"},{"caption":"FLG-nEDD: palmoplantar hyperlinearity. Well-defined lines on the palm, which may appear more pronounced compared with healthy skin. The skin may also feel rough, with an overall thickened texture.","figure":"Figure 2","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"e","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s9_e.jpeg"}],"previousName":"Ichthyosis vulgaris","references":"Smith (2006), Palmer (2006)","searchKeywords":["flg","nedd","ichthyosis","vulgaris","structural","proteins","generalized","fine","scaling","and","palmoplantar","hyperlinearity","variable","keratosis","pilaris","atopic","diathesis","ppk","histopathology","absence","or","thinning","of","granular","layers","follicular","plugging","readthrough","therapy","for","nonsense","variants","smith","fjd","irvine","ad","terron","kwiatkowski","a","et","al","loss","function","mutations","in","the","gene","encoding","filaggrin","cause","nat","genet","2006","38","337","42","palmer","cna","common","epidermal","barrier","protein","are","major","predisposing","factor","dermatitis","441","6"],"treatment":"Readthrough therapy for FLG nonsense variants.","id":"FLG-nEDD"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Clabbers JMK, Bolling MC, Burms C et al. Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene. J Eur Acad Dermatol Venereol 2023; 37:e486-90. | Liu C, Han C, Liang J et al. Variants in the gene encoding filaggrin cause autosomal-dominant symmetrical acral keratoderma. 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Filaggrin 2 deficiency results in abnormal cell-cell adhesion in the cornified cell layers and causes peeling skin syndrome type A. 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Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease. Pediatr Res 1996; 39:134-41. || Daykin EC, Ryan E, Sidransky E. Diagnosing neuronopathic Gaucher disease: new considerations and challenges in assigning Gaucher phenotypes. Mol Genet Metab 2021; 132:49-58.","gene":"GBA","gene_lowercase":"gba","imageUrl":"","inheritance":"AR","keyClinicalClues":"Collodion membrane or generalized scaling at birth; primary CNS disease with death usually in infancy.","newName":"GBA-sEDD","onset":"Birth","pathway":"Lipid synthesis and transport","previousName":"Gaucher disease type 2","references":"Sidransky (1996), Daykin (2021)","searchKeywords":["gba","sedd","gaucher","disease","type","2","lipid","synthesis","and","transport","collodion","membrane","or","generalized","scaling","at","birth","primary","cns","with","death","usually","in","infancy","is","typically","transient","ectropion","may","be","present","nonimmune","hydrops","fetalis","respiratory","distress","lung","hypoplasia","thrombocytopenia","apnoea","myoclonic","seizures","hepatosplenomegaly","akinesia","joint","contractures","arthrogryposis","cataracts","cardiomyopathy","3","neurological","deterioration","leads","to","by","childhood","enzyme","replacement","therapy","glucocerebrosidase","ono","2001","sidransky","e","fartasch","m","lee","re","et","al","epidermal","abnormalities","distinguish","from","1","of","pediatr","res","1996","39","134","41","daykin","ec","ryan","diagnosing","neuronopathic","new","considerations","challenges","assigning","phenotypes","mol","genet","metab","2021","132","49","58"],"treatment":"Enzyme replacement therapy with β-glucocerebrosidase (Ono, 2001).","id":"GBA-sEDD"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Boyden LM, Craiglow BG, Zhou J et al. Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia. 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A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma. 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Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. 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A missense mutation in connexin 26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Mol Genet 1999; 8:1237-43.","gene":"GJB2","gene_lowercase":"gjb2","imageUrl":"","inheritance":"AD","keyClinicalClues":"Starfish-like keratoses, honeycomb keratoderma, hearing loss, pseudoainhum.","newName":"GJB2-pEDD-honeycomb","onset":"Early childhood","pathway":"Channels","previousName":"Vohwinkel syndrome","references":"Maestrini (1999)","searchKeywords":["gjb2","pedd","honeycomb","vohwinkel","syndrome","channels","starfish","like","keratoses","keratoderma","hearing","loss","pseudoainhum","potential","for","antisense","oligonucleotides","mabs","mammano","2024","maestrini","e","korge","bp","ocana","sierra","j","et","al","a","missense","mutation","in","connexin","26","d66h","causes","mutilating","with","sensorineural","deafness","s","three","unrelated","families","hum","mol","genet","1999","8","1237","43"],"treatment":"Potential for antisense oligonucleotides, mAbs (Mammano, 2024).","id":"GJB2-pEDD-honeycomb"},{"additionalCutaneousFeatures":"knuckle pads, leuconychia","additionalExtracutaneousFeatures":"Hearing loss","category":"pEDD","fullReference":"Richard G, Brown N, Ishida-Yamamoto A et al. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. 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Somatic mosaicism for a \"lethal\" GJB2 mutation results in a patterned form of spiny hyperkeratosis without eccrine involvement. 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Connexin hemichannel inhibition and human genodermatoses. 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Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet 1998; 20:366-9. || Gottfried I, Landau M, Glaser F et al. A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. 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Nat Genet 2000; 26:142-4.","gene":"GJB6","gene_lowercase":"gjb6","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s3_f.jpeg","inheritance":"AD","keyClinicalClues":"Hypotrichosis of eyebrows/scalp, mild PPK, subungual thickening.","newName":"GJB6-pEDD","onset":"Childhood","pathway":"Channels","photoCaption":"GJB6-pEDD: subungual hyperkeratosis of the fingernails and focal, plantar keratoderma.","photos":[{"caption":"GJB6-pEDD: subungual hyperkeratosis of the fingernails and focal, plantar keratoderma.","figure":"Figure 2","figureUrl":"https://doi.org/10.1093/bjd/ljaf054","panel":"f","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s3_f.jpeg"}],"previousName":"Clouston syndrome","references":"Lamartine (2000)","searchKeywords":["gjb6","pedd","clouston","syndrome","channels","hypotrichosis","of","eyebrows","scalp","mild","ppk","subungual","thickening","and","nail","abnormalities","including","potential","for","antisense","oligonucleotides","mabs","mammano","2024","lamartine","j","munhoz","essenfelder","g","kibar","z","et","al","mutations","in","cause","hidrotic","ectodermal","dysplasia","nat","genet","2000","26","142","4"],"treatment":"Potential for antisense oligonucleotides, mAbs (Mammano, 2024).","id":"GJB6-pEDD"},{"additionalCutaneousFeatures":"Often born with a collodion membrane; generalized scaling, typically mild; sparse hair showing tiger tail banding under polarized light.","additionalExtracutaneousFeatures":"See TTD group: Failure to thrive, short stature; developmental and speech delay, hearing loss; dysmorphic facies, microcephaly; abnormal teeth; recurrent infections.","category":"sEDD","fullReference":"Morice-Picard F, Cario-André M, Rezvani H et al. New clinico-genetic classification of trichothiodystrophy. Am J Med Genet A 2009 149A:2020-30.","gene":"GTF2E2","gene_lowercase":"gtf2e2","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_c.jpeg","inheritance":"AR","keyClinicalClues":"Non-photosensitive; Tiger tail banding with polarized light.","newName":"GTF2E2-sEDD-TTD","onset":"Birth","pathway":"DNA repair","photoCaption":"sEDD-TTD (unspecified-sEDD-TTD): the hallmark of TTD is a pattern of light and dark bands (tiger tail banding) seen on the shaft with polarizing microscopy.","photos":[{"caption":"sEDD-TTD (unspecified-sEDD-TTD): the hallmark of TTD is a pattern of light and dark bands (tiger tail banding) seen on the shaft with polarizing microscopy.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"c","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_c.jpeg"},{"caption":"sEDD-TTD (unspecified-sEDD-TTD): large brown scaling on the leg of a young boy.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"a","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_a.jpeg"},{"caption":"sEDD-TTD (unspecified-sEDD-TTD): sparse and brittle hair in a young child.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"b","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_b.jpeg"}],"previousName":"Trichothiodystrophy 6, nonphotosensitive","references":"Morice-Picard (2009)","searchKeywords":["gtf2e2","sedd","ttd","trichothiodystrophy","6","nonphotosensitive","dna","repair","non","photosensitive","tiger","tail","banding","with","polarized","light","often","born","a","collodion","membrane","generalized","scaling","typically","mild","sparse","hair","showing","under","see","group","failure","to","thrive","short","stature","developmental","and","speech","delay","hearing","loss","dysmorphic","facies","microcephaly","abnormal","teeth","recurrent","infections","morice","picard","f","cario","andr","m","rezvani","h","et","al","new","clinico","genetic","classification","of","am","j","med","genet","2009","149a","2020","30"],"id":"GTF2E2-sEDD-TTD"},{"additionalCutaneousFeatures":"Often born with a collodion membrane; may have tufted hair. Later: Generalized, typically mild, fine-to-polygonal scaling. Thin brittle hair with trichoschisis and tiger tail banding (polarized light); occasional nail dystrophy, PPK, prominent cheilitis; NMSC may develop.","additionalExtracutaneousFeatures":"See TTD group: Failure to thrive, low birthweight, short stature; developmental and speech delay, hearing loss; dysmorphic facies, microcephaly; abnormal teeth; recurrent infections.","category":"sEDD","fullReference":"Morice-Picard F, Cario-André M, Rezvani H et al. New clinico-genetic classification of trichothiodystrophy. Am J Med Genet A 2009 149A:2020-30.","gene":"GTF2H5","gene_lowercase":"gtf2h5","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_a.jpeg","inheritance":"AR","keyClinicalClues":"Photosensitivity; Tiger tail banding with polarized light.","newName":"GTF2H5-sEDD-TTD","onset":"Birth","pathway":"DNA repair","photoCaption":"sEDD-TTD (unspecified-sEDD-TTD): large brown scaling on the leg of a young boy.","photos":[{"caption":"sEDD-TTD (unspecified-sEDD-TTD): large brown scaling on the leg of a young boy.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"a","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_a.jpeg"},{"caption":"sEDD-TTD (unspecified-sEDD-TTD): sparse and brittle hair in a young child.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"b","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_b.jpeg"},{"caption":"sEDD-TTD (unspecified-sEDD-TTD): the hallmark of TTD is a pattern of light and dark bands (tiger tail banding) seen on the shaft with polarizing microscopy.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"c","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_c.jpeg"}],"previousName":"Trichothiodystrophy 3, photosensitive","references":"Morice-Picard (2009)","searchKeywords":["gtf2h5","sedd","ttd","trichothiodystrophy","3","photosensitive","dna","repair","photosensitivity","tiger","tail","banding","with","polarized","light","often","born","a","collodion","membrane","may","have","tufted","hair","later","generalized","typically","mild","fine","to","polygonal","scaling","thin","brittle","trichoschisis","and","occasional","nail","dystrophy","ppk","prominent","cheilitis","nmsc","develop","see","group","failure","thrive","low","birthweight","short","stature","developmental","speech","delay","hearing","loss","dysmorphic","facies","microcephaly","abnormal","teeth","recurrent","infections","morice","picard","f","cario","andr","m","rezvani","h","et","al","new","clinico","genetic","classification","of","am","j","med","genet","2009","149a","2020","30"],"id":"GTF2H5-sEDD-TTD"},{"additionalCutaneousFeatures":"Woolly hair","additionalExtracutaneousFeatures":"right ventricular arrhythmogenic cardiomyopathy","category":"pEDD","fullReference":"McKoy G, Protonotarios N, Crosby A et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000; 355:2119-24.","gene":"JUP","gene_lowercase":"jup","imageUrl":"","inheritance":"AR","keyClinicalClues":"Woolly hair, diffuse PPK; right ventricular arrhythmogenic cardiomyopathy.","newName":"JUP-pEDD","onset":"Infancy","pathway":"Structural Proteins","previousName":"Naxos disease","references":"McKoy (2000)","searchKeywords":["jup","pedd","naxos","disease","structural","proteins","woolly","hair","diffuse","ppk","right","ventricular","arrhythmogenic","cardiomyopathy","mckoy","g","protonotarios","n","crosby","a","et","al","identification","of","deletion","in","plakoglobin","with","palmoplantar","keratoderma","and","lancet","2000","355","2119","24"],"id":"JUP-pEDD"},{"additionalCutaneousFeatures":"Striate palmar keratoderma, focal on feet, pseudoainhum of fifth toe, sparse, woolly hair, follicular keratoses, leuconychia of fingernails","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Ramot Y, Molho-Pessach V, Meir T et al. Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair. J Med Genet 2014; 51:388-94.","gene":"KANK2","gene_lowercase":"kank2","imageUrl":"","inheritance":"AR","keyClinicalClues":"Striate palmar keratoderma, focal on feet; pseudoainhum of fifth toe, sparse, woolly hair, follicular keratoses; leuconychia of fingernails.","newName":"KANK2-pEDD","onset":"Early childhood","pathway":"Signalling molecules","previousName":"PPK and woolly hair","references":"Ramot (2014)","searchKeywords":["kank2","pedd","ppk","and","woolly","hair","signalling","molecules","striate","palmar","keratoderma","focal","on","feet","pseudoainhum","of","fifth","toe","sparse","follicular","keratoses","leuconychia","fingernails","ramot","y","molho","pessach","v","meir","t","et","al","mutation","in","encoding","a","sequestering","protein","for","steroid","receptor","coactivators","causes","j","med","genet","2014","51","388","94"],"id":"KANK2-pEDD"},{"additionalCutaneousFeatures":"Histopathology: Remarkable acanthosis, sparse-to-absent keratohyalin granules in the granular layer, parakeratosis.","additionalExtracutaneousFeatures":"About half of patients have haematological symptoms (thrombocytopenia, anaemia), usually transient.","category":"nEDD","fullReference":"Boyden LM, Vincent NG, Zhou J et al. Mutations in KDSR cause recessive progressive symmetric erythrokeratoderma. Am J Hum Genet 2017; 100:978-84. || Takeichi T, Torrelo A, Lee JYW et al. Biallelic mutations in KDSR disrupt ceramide synthesis and result in a spectrum of keratinization disorders associated with thrombocytopenia. J Invest Dermatol 2017; 137:2344-53. || Wijsmans D, Spanoudi-Kitrimi I. Variable skin findings in two siblings with KDSR mutations manifesting in PERIOPTER syndrome. Pediatr Dermatol 2023; 40:330-2.","gene":"KDSR","gene_lowercase":"kdsr","imageUrl":"","inheritance":"AR","keyClinicalClues":"Localized facial and genital thickened and scaly plaques with mild erythematous PPK, or severe collodion presentation at birth and subsequent generalized adherent scales. Intermittent thrombocytopenia and/or anaemia can be present.","newName":"KDSR-nEDD","onset":"Birth","pathway":"Lipid synthesis and transport","previousName":"Erythrokeratodermia variabilis et progressiva, PERIOPTER syndrome","references":"Boyden (2017), Takeichi (2017), Wijsmans (2023)","searchKeywords":["kdsr","nedd","erythrokeratodermia","variabilis","et","progressiva","periopter","syndrome","lipid","synthesis","and","transport","localized","facial","genital","thickened","scaly","plaques","with","mild","erythematous","ppk","or","severe","collodion","presentation","at","birth","subsequent","generalized","adherent","scales","intermittent","thrombocytopenia","anaemia","can","be","present","histopathology","remarkable","acanthosis","sparse","to","absent","keratohyalin","granules","in","the","granular","layer","parakeratosis","about","half","of","patients","have","haematological","symptoms","usually","transient","boyden","lm","vincent","ng","zhou","j","al","mutations","cause","recessive","progressive","symmetric","erythrokeratoderma","am","hum","genet","2017","100","978","84","takeichi","t","torrelo","a","lee","jyw","biallelic","disrupt","ceramide","result","spectrum","keratinization","disorders","associated","invest","dermatol","137","2344","53","wijsmans","d","spanoudi","kitrimi","i","variable","skin","findings","two","siblings","manifesting","pediatr","2023","40","330","2"],"id":"KDSR-nEDD"},{"additionalCutaneousFeatures":"aquagenic","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Malovitski K, Sarig O, Assaf S et al. Loss-of-function variants in KLF4 underlie autosomal dominant palmoplantar keratoderma. Genet Med 2022; 24:1085-95.","gene":"KLF4","gene_lowercase":"klf4","imageUrl":"","inheritance":"AD","keyClinicalClues":"Focal PPK, aquagenic.","newName":"KLF4-pEDD","onset":"Infancy/childhood","pathway":"Transcription factors","previousName":"Autosomal dominant PPK","references":"Malovitski (2022)","searchKeywords":["klf4","pedd","autosomal","dominant","ppk","transcription","factors","focal","aquagenic","malovitski","k","sarig","o","assaf","s","et","al","loss","of","function","variants","in","underlie","palmoplantar","keratoderma","genet","med","2022","24","1085","95"],"id":"KLF4-pEDD"},{"additionalCutaneousFeatures":"Diffuse skin thickening with or without hyperpigmentation, periorificial scaling and erythema (angular cheilitis, eyes, nostrils, anus, genitalia); palmoplantar thickening with transgrediens, follicular-based keratoses, hypertrophic nail dystrophy, sparse/brittle hair, sometimes scarring alopecia.","additionalExtracutaneousFeatures":"Facultative sensorineural deafness, lymphoedema of lower legs.","category":"sEDD","fullReference":"Wang Z, Zhang Z, Liu J et al. A loss-of-function variant in KLF4 affecting zinc finger motifs causes progressive symmetric erythrokeratodermia. Br J Dermatol 2024; 191:843-5. || Wang Z, Liu J, Wechsberg O et al. Variants in KLF4 affecting residue Asp441 cause an autosomal dominant syndromic ichthyosis. Br J Dermatol 2025; https://doi.org/10.1093/bjd/ljaf062 (Epub ahead of print).","gene":"KLF4","gene_lowercase":"klf4","imageUrl":"","inheritance":"AD","keyClinicalClues":"Diffuse skin thickening, palm and soles thickened, hypotrichosis.","newName":"KLF4-sEDD","onset":"Birth","pathway":"Transcription factor","previousName":"Erythrokeratodermia variabilis et progressiva","references":"Wang (2024), Wang (2025)","searchKeywords":["klf4","sedd","erythrokeratodermia","variabilis","et","progressiva","transcription","factor","diffuse","skin","thickening","palm","and","soles","thickened","hypotrichosis","with","or","without","hyperpigmentation","periorificial","scaling","erythema","angular","cheilitis","eyes","nostrils","anus","genitalia","palmoplantar","transgrediens","follicular","based","keratoses","hypertrophic","nail","dystrophy","sparse","brittle","hair","sometimes","scarring","alopecia","facultative","sensorineural","deafness","lymphoedema","of","lower","legs","wang","z","zhang","liu","j","al","a","loss","function","variant","in","affecting","zinc","finger","motifs","causes","progressive","symmetric","br","dermatol","2024","191","843","5","wechsberg","o","variants","residue","asp441","cause","an","autosomal","dominant","syndromic","ichthyosis","2025","https","doi","org","10","1093","bjd","ljaf062","epub","ahead","print"],"id":"KLF4-sEDD"},{"additionalCutaneousFeatures":"atrophic scars with altered pigmentation","additionalExtracutaneousFeatures":"cardiomyopathy","category":"pEDD","fullReference":"Lin Z, Li S, Feng C et al. Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. Nat Genet 2016; 48:1508-16.","gene":"KLHL24","gene_lowercase":"klhl24","imageUrl":"","inheritance":"AD","keyClinicalClues":"Blisters and erosions, atrophic scars, dystrophic nails; beware of cardiomyopathy.","newName":"KLHL24-pEDD-EBS","onset":"Infancy","pathway":"Structural Proteins","previousName":"Epidermolysis bullosa simplex, intermediate with cardiomyopathy","references":"Lin (2016)","searchKeywords":["klhl24","pedd","ebs","epidermolysis","bullosa","simplex","intermediate","with","cardiomyopathy","structural","proteins","blisters","and","erosions","atrophic","scars","dystrophic","nails","beware","of","altered","pigmentation","lin","z","li","s","feng","c","et","al","stabilizing","mutations","ubiquitin","ligase","cause","loss","keratin","14","human","skin","fragility","nat","genet","2016","48","1508","16"],"id":"KLHL24-pEDD-EBS"},{"additionalCutaneousFeatures":"Patchy scaling on trunk, diffuse scaling on extremities.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Gong Z, Dai S, Jiang X et al. Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder. Br J Dermatol 2023; 188:100-11. || Takeichi T, Ito Y, Lee JYW et al. KLK11 ichthyosis: large truncal hyperkeratotic pigmented plaques underscore a distinct autosomal dominant disorder of cornification. Br J Dermatol 2023; 189:134-6.","gene":"KLK11","gene_lowercase":"klk11","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s10_i.jpeg","inheritance":"AD","keyClinicalClues":"Thickened scaly plaques and patchy scaling or diffuse scaling, PPK.","newName":"KLK11-nEDD","onset":"Birth","pathway":"Enzymes","photoCaption":"KLK11-nEDD: diffuse erythema with scaling on the lower leg.","photos":[{"caption":"KLK11-nEDD: diffuse erythema with scaling on the lower leg.","figure":"Figure 5","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"i","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s10_i.jpeg"}],"previousName":"Autosomal dominant cornification disorder","references":"Gong (2023), Takeichi (2023)","searchKeywords":["klk11","nedd","autosomal","dominant","cornification","disorder","enzymes","thickened","scaly","plaques","and","patchy","scaling","or","diffuse","ppk","on","trunk","extremities","gong","z","dai","s","jiang","x","et","al","variants","in","affecting","signal","peptide","cleavage","of","kallikrein","related","peptidase","11","cause","an","br","j","dermatol","2023","188","100","takeichi","t","ito","y","lee","jyw","ichthyosis","large","truncal","hyperkeratotic","pigmented","underscore","a","distinct","189","134","6"],"id":"KLK11-nEDD"},{"additionalCutaneousFeatures":"Histopathology (KRT1, KRT10, KRT16): Granular degeneration, perinuclear vacuoles, sometimes epidermolysis. Histopathology (KRT2): Granular degeneration and sometimes epidermolysis in superficial epidermis. Rare binuclear keratinocytes.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Tsubota A, Akiyama M, Sakai K et al. Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis. J Invest Dermatol 2007; 127:1371-4. || Diociaiuti A, Castiglia D, Corbeddu M et al. First case of KRT2 epidermolytic nevus and novel clinical and genetic findings in 26 Italian patients with keratinopathic ichthyoses. Int J Mol Sci 2020; 21:7707. || Samuelov L. Sarig O, Gat A et al. Extensive lentigo simplex, linear epidermolytic naevus and epidermolytic naevus comedonicus caused by a somatic mutation in KRT10. Br J Dermatol 2015; 173:293-6. || Terrinoni A, De Laurenzi V, Candi E et al. A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus. J Invest Dermatol 2000; 114:1136-40.","gene":"KRT1, KRT2, KRT10, KRT16","gene_lowercase":"krt1, krt2, krt10, krt16","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s8_n.jpeg","inheritance":"Postzygotic mosaicism","keyClinicalClues":"Localized skin thickening, scaling and erosions following the lines of Blaschko.","newName":"KRT-nEDD-mosaic","onset":"Birth to infancy","pathway":"Structural proteins","photoCaption":"KRT10-nEDD-mosaic: severe grey skin thickening on the legs, following the lines of Blaschko.","photos":[{"caption":"KRT10-nEDD-mosaic: severe grey skin thickening on the legs, following the lines of Blaschko.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"n","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s8_n.jpeg"}],"previousName":"Epidermolytic naevus","references":"Tsubota (2007), Diociaiuti (2020), Samuelov (2015), Terrinoni (2000)","searchKeywords":["krt","nedd","mosaic","epidermolytic","naevus","krt1","krt2","krt10","krt16","structural","proteins","localized","skin","thickening","scaling","and","erosions","following","the","lines","of","blaschko","histopathology","granular","degeneration","perinuclear","vacuoles","sometimes","epidermolysis","in","superficial","epidermis","rare","binuclear","keratinocytes","tsubota","a","akiyama","m","sakai","k","et","al","keratin","1","gene","mutation","detected","epidermal","nevus","with","hyperkeratosis","j","invest","dermatol","2007","127","1371","4","diociaiuti","castiglia","d","corbeddu","first","case","novel","clinical","genetic","findings","26","italian","patients","keratinopathic","ichthyoses","int","mol","sci","2020","21","7707","samuelov","l","sarig","o","gat","extensive","lentigo","simplex","linear","comedonicus","caused","by","somatic","br","2015","173","293","6","terrinoni","de","laurenzi","v","candi","e","v1","domain","k16","is","responsible","for","unilateral","palmoplantar","verrucous","2000","114","1136","40"],"id":"KRT-nEDD-mosaic"},{"additionalCutaneousFeatures":"Localized normal skin following the lines of Blaschko, appearing in early infancy. Histopathology: Perinuclear vacuolation, rare binucleate keratinocytes, compact thickening of the stratum corneum; revertant spots show histological normal skin.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Choate KA, Lu Y, Zhou J et al. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. J Clin Invest 2015; 125:1703-7. || Choate KA, Lu Y, Zhou J et al. Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Science 2010; 330:94-7.","gene":"KRT1, KRT10","gene_lowercase":"krt1, krt10","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s8_r.jpeg","inheritance":"AD","keyClinicalClues":"Slowly enlarging round islands of normal skin upon generalized erythroderma, beginning in childhood.","newName":"KRT-nEDD-revertant mosaic","onset":"Infancy","pathway":"Structural proteins","photoCaption":"KRT10-nEDD-revertant (rev) mosaic: severe erythroderma with large, superficial scaling in a newborn baby with this condition (formerly known as ichthyosis with confetti).","photos":[{"caption":"KRT10-nEDD-revertant (rev) mosaic: severe erythroderma with large, superficial scaling in a newborn baby with this condition (formerly known as ichthyosis with confetti).","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"r","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s8_r.jpeg"},{"caption":"KRT10-nEDD-revertant (rev) mosaic: severe erythroderma in a child with scattered lenticular areas of healthy-looking skin, reflecting revertant mosaicism.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"s","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s8_s.jpeg"},{"caption":"KRT10-nEDD-revertant (rev) mosaic: multiple scattered normal-looking skin spots, reflecting revertant mosaicism, on severe erythroderma in an adult.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"t","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s8_t.jpeg"},{"caption":"KRT1-nEDD-revertant (rev) mosaic: scattered normal-looking skin spots, reflecting revertant mosaicism are seen in the erythrodermic skin.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"u","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s8_u.jpeg"}],"previousName":"Ichthyosis with confetti","references":"Choate (2015, 2010)","searchKeywords":["krt","nedd","revertant","mosaic","ichthyosis","with","confetti","krt1","krt10","structural","proteins","slowly","enlarging","round","islands","of","normal","skin","upon","generalized","erythroderma","beginning","in","childhood","localized","following","the","lines","blaschko","appearing","early","infancy","histopathology","perinuclear","vacuolation","rare","binucleate","keratinocytes","compact","thickening","stratum","corneum","spots","show","histological","choate","ka","lu","y","zhou","j","et","al","frequent","somatic","reversion","mutations","clin","invest","2015","125","1703","7","mitotic","recombination","patients","causes","dominant","science","2010","330","94"],"id":"KRT-nEDD-revertant mosaic"},{"additionalCutaneousFeatures":"Histopathology: Granular degeneration, perinuclear vacuoles, sometimes epidermolysis.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Zaki TD, Yoo K-Y, Kassardjian M, Choate KA. A p.4781>T KRT1 mutation in a case of annular epidermolytic ichthyosis. Pediatr Dermatol 2018; 35:e414-15.","gene":"KRT1","gene_lowercase":"krt1","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s8_m.jpeg","inheritance":"AD","keyClinicalClues":"A cyclic history of annular erythematous plaques with peripheral scale.","newName":"KRT1-nEDD-annular","onset":"Childhood","pathway":"Structural proteins","photoCaption":"KRT1-nEDD-annular: annular superficial erythematous and scaly lesions on the lower abdomen, typically transient.","photos":[{"caption":"KRT1-nEDD-annular: annular superficial erythematous and scaly lesions on the lower abdomen, typically transient.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"m","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s8_m.jpeg"}],"previousName":"Annular epidermolytic ichthyosis","references":"Zaki (2018)","searchKeywords":["krt1","nedd","annular","epidermolytic","ichthyosis","structural","proteins","a","cyclic","history","of","erythematous","plaques","with","peripheral","scale","histopathology","granular","degeneration","perinuclear","vacuoles","sometimes","epidermolysis","zaki","td","yoo","k","y","kassardjian","m","choate","ka","p","4781","t","mutation","in","case","pediatr","dermatol","2018","35","e414","15"],"id":"KRT1-nEDD-annular"},{"additionalCutaneousFeatures":"Histopathology: Granular degeneration, perinuclear vacuoles, sometimes epidermolysis.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Rothnagel JA, Dominey AM, Dempsey LD et al. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science 1992; 257:1128-30.","gene":"KRT1","gene_lowercase":"krt1","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s8_i.jpeg","inheritance":"AD","keyClinicalClues":"Blistering/erosions and erythema at birth, progressive development of corrugated, localized or diffuse thickening and scaling, severe PPK.","newName":"KRT1-nEDD-epidermolytic","onset":"Birth","pathway":"Structural proteins","photoCaption":"KRT1-nEDD-epidermolytic: diffuse severe scaling and skin thickening on the thigh of an adult.","photos":[{"caption":"KRT1-nEDD-epidermolytic: diffuse severe scaling and skin thickening on the thigh of an adult.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"i","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s8_i.jpeg"},{"caption":"KRT1-nEDD-epidermolytic: diffuse erythema, severe skin thickening and scaling in the legs of a child.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"h","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s8_h.jpeg"},{"caption":"KRT1-nEDD-epidermolytic: severe thick scaling is seen in the soles and the lower legs.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"j","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s8_j.jpeg"},{"caption":"KRT1-nEDD-epidermolytic: diffuse skin thickening and scaling with erythema in the neck and the shoulders of a child.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"k","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s8_k.jpeg"},{"caption":"KRT1-nEDD-epidermolytic: rough diffuse thickening of the palm, commonly also present on the soles.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"l","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s8_l.jpeg"}],"previousName":"Epidermolytic ichthyosis, bullous congenital ichthyosiform erythroderma","references":"Rothnagel (1992)","searchKeywords":["krt1","nedd","epidermolytic","ichthyosis","bullous","congenital","ichthyosiform","erythroderma","structural","proteins","blistering","erosions","and","erythema","at","birth","progressive","development","of","corrugated","localized","or","diffuse","thickening","scaling","severe","ppk","histopathology","granular","degeneration","perinuclear","vacuoles","sometimes","epidermolysis","small","molecules","sirna","repurposed","drugs","rothnagel","ja","dominey","am","dempsey","ld","et","al","mutations","in","the","rod","domains","keratins","1","10","hyperkeratosis","science","1992","257","1128","30"],"treatment":"Small molecules, siRNA, repurposed drugs.","id":"KRT1-nEDD-epidermolytic"},{"additionalCutaneousFeatures":"Histopathology: Extensive serrated hyperkeratosis and prominent papillomatosis without epidermolysis.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Eskin-Schwartz M, Drozhdina M, Sarig O et al. Epidermolytic ichthyosis sine epidermolysis. Am J Dermatopathol 2017: 39:440-4.","gene":"KRT1","gene_lowercase":"krt1","imageUrl":"","inheritance":"AD","keyClinicalClues":"Diffuse erythema, scaling and erosions, PPK.","newName":"KRT1-nEDD-nonepidermolytic","onset":"Birth to infancy","pathway":"Structural proteins","previousName":"Epidermolytic ichthyosis","references":"Eskin-Schwartz (2017)","searchKeywords":["krt1","nedd","nonepidermolytic","epidermolytic","ichthyosis","structural","proteins","diffuse","erythema","scaling","and","erosions","ppk","histopathology","extensive","serrated","hyperkeratosis","prominent","papillomatosis","without","epidermolysis","eskin","schwartz","m","drozhdina","sarig","o","et","al","sine","am","j","dermatopathol","2017","39","440","4"],"id":"KRT1-nEDD-nonepidermolytic"},{"additionalCutaneousFeatures":"Histopathology: Extensive serrated thickening of the stratum corneum and prominent papillomatosis without epidermolysis.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Sprecher E, Miller CJ, Richard G et al. Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix. J Invest Dermatol 2001; 116:511-19. || Terrinoni A, Didona B, Caporali S et al. Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin. PLOS ONE 2018, 13:e0195792.","gene":"KRT1","gene_lowercase":"krt1","imageUrl":"","inheritance":"AD","keyClinicalClues":"Very severe dark, spiky or verrucous plaques, severe PPK.","newName":"KRT1-nEDD-spiny","onset":"Infancy","pathway":"Structural proteins","previousName":"Ichthyosis hystrix, Curth-Macklin type","references":"Sprecher (2001), Terrinoni (2018)","searchKeywords":["krt1","nedd","spiny","ichthyosis","hystrix","curth","macklin","type","structural","proteins","very","severe","dark","spiky","or","verrucous","plaques","ppk","histopathology","extensive","serrated","thickening","of","the","stratum","corneum","and","prominent","papillomatosis","without","epidermolysis","sprecher","e","miller","cj","richard","g","et","al","evidence","for","novel","functions","keratin","tail","emerging","from","a","mutation","causing","j","invest","dermatol","2001","116","511","19","terrinoni","didona","b","caporali","s","role","1","10","tails","in","pathogenesis","plos","one","2018","13","e0195792"],"id":"KRT1-nEDD-spiny"},{"additionalCutaneousFeatures":"Histopathology: Mild perinuclear eosinophilic condensations and cytoplasmic vacuolization in spinous layer keratinocytes.","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Terron-Kwiatkowski A, Terrinoni A, Didona B et al. Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene. Br J Dermatol 2004; 150:1096-103.","gene":"KRT1","gene_lowercase":"krt1","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s2_b.jpeg","inheritance":"AD, AR","keyClinicalClues":"Diffuse PPK, may be flexural involvement.","newName":"KRT1-pEDD","onset":"Infancy","pathway":"Structural Proteins","photoCaption":"KRT1-pEDD: diffuse plantar keratoderma.","photos":[{"caption":"KRT1-pEDD: diffuse plantar keratoderma.","figure":"Figure 1","figureUrl":"https://doi.org/10.1093/bjd/ljaf054","panel":"b","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s2_b.jpeg"}],"previousName":"Nonepidermolytic PPK","references":"Terron-Kwiatkowski (2004)","searchKeywords":["krt1","pedd","nonepidermolytic","ppk","structural","proteins","diffuse","may","be","flexural","involvement","histopathology","mild","perinuclear","eosinophilic","condensations","and","cytoplasmic","vacuolization","in","spinous","layer","keratinocytes","terron","kwiatkowski","a","terrinoni","didona","b","et","al","atypical","epidermolytic","palmoplantar","keratoderma","presentation","associated","with","mutation","the","keratin","1","gene","br","j","dermatol","2004","150","1096","103"],"id":"KRT1-pEDD"},{"additionalCutaneousFeatures":"usually hyperkeratotic plaques on elbows and knees, severe PPK","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Sprecher E, Ishida-Yamamoto A, Becker OM et al. Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix. J Invest Dermatol 2001; 116:511-19.","gene":"KRT1","gene_lowercase":"krt1","imageUrl":"","inheritance":"AD","keyClinicalClues":"Severe skin thickening with spiky/spiny appearance; pseudoainhum.","newName":"KRT1-pEDD-spiny","onset":"Infancy","pathway":"Structural Proteins","previousName":"Ichthyosis hystrix, Curth-Macklin type","references":"Sprecher (2001)","searchKeywords":["krt1","pedd","spiny","ichthyosis","hystrix","curth","macklin","type","structural","proteins","severe","skin","thickening","with","spiky","appearance","pseudoainhum","usually","hyperkeratotic","plaques","on","elbows","and","knees","ppk","sprecher","e","ishida","yamamoto","a","becker","om","et","al","evidence","for","novel","functions","of","the","keratin","tail","emerging","from","mutation","causing","j","invest","dermatol","2001","116","511","19"],"id":"KRT1-pEDD-spiny"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Whittock NV, Smith FJ, Wan H et al. Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. J Invest Dermatol 2002; 118:838-44.","gene":"KRT1","gene_lowercase":"krt1","imageUrl":"","inheritance":"AD","keyClinicalClues":"Focal keratoderma on palms, striate on the fingers.","newName":"KRT1-pEDD-striate","onset":"Childhood","pathway":"Structural Proteins","previousName":"Striate PPK 3","references":"Whittock (2002)","searchKeywords":["krt1","pedd","striate","ppk","3","structural","proteins","focal","keratoderma","on","palms","the","fingers","whittock","nv","smith","fj","wan","h","et","al","frameshift","mutation","in","v2","domain","of","human","keratin","1","results","palmoplantar","j","invest","dermatol","2002","118","838","44"],"id":"KRT1-pEDD-striate"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Kimonis V, DiGiovanna JJ, Yang JM et al. A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. J Invest Dermatol 1994; 103:764-9.","gene":"KRT1","gene_lowercase":"krt1","imageUrl":"","inheritance":"AD","keyClinicalClues":"Mild-to-moderate diffuse keratoderma with erythematous halo; extension along Achilles tendon; knuckle pads; sometimes plaques over knees and elbows, umbilicus and nipple areolae","newName":"KRT1-pEDD-V1 domain; nonepidermolytic","onset":"Infancy","pathway":"Structural Proteins","previousName":"Nonepidermolytic PPK, type Kimonis","references":"Kimonis (1994)","searchKeywords":["krt1","pedd","v1","domain","nonepidermolytic","ppk","type","kimonis","structural","proteins","mild","to","moderate","diffuse","keratoderma","with","erythematous","halo","extension","along","achilles","tendon","knuckle","pads","sometimes","plaques","over","knees","and","elbows","umbilicus","nipple","areolae","v","digiovanna","jj","yang","jm","et","al","a","mutation","in","the","end","of","keratin","1","non","epidermolytic","palmar","plantar","j","invest","dermatol","1994","103","764","9"],"id":"KRT1-pEDD-V1 domain; nonepidermolytic"},{"additionalCutaneousFeatures":"Histopathology: Granular degeneration, perinuclear vacuoles, sometimes epidermolysis.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Suga Y, Duncan KO, Heald PW, Roop DR. A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. J Invest Dermatol 1998; 111:1220-3.","gene":"KRT10","gene_lowercase":"krt10","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s8_f.jpeg","inheritance":"AD","keyClinicalClues":"A cyclic history of annular erythematous plaques with peripheral scale.","newName":"KRT10-nEDD-annular","onset":"Childhood","pathway":"Structural proteins","photoCaption":"KRT10-nEDD-annular: annular scaly plaque on the inner left ankle. These lesions show superficial epidermolysis and are often transient.","photos":[{"caption":"KRT10-nEDD-annular: annular scaly plaque on the inner left ankle. 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Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science 1992; 257:1128-30. || Müller FB, Huber M, Kinaciyan T et al. A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. 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The absence of palmar thickening is typical in patients with KRT10 variants.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"e","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s8_e.jpeg"},{"caption":"KRT10-nEDD-epidermolytic: warty focal thickening on the elbows. This morphology is also often present on the knees. Note the diffuse skin thickening in adjacent areas.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"g","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s8_g.jpeg"}],"previousName":"Epidermolytic ichthyosis, bullous congenital ichthyosiform erythroderma","references":"Rothnagel (1992), Müller (2006)","searchKeywords":["krt10","nedd","epidermolytic","ichthyosis","bullous","congenital","ichthyosiform","erythroderma","structural","proteins","blistering","erosions","and","erythema","at","birth","corrugated","localized","or","diffuse","skin","thickening","usually","mild","absent","ppk","histopathology","granular","degeneration","perinuclear","vacuoles","sometimes","epidermolysis","small","molecules","sirna","repurposed","drugs","rothnagel","ja","dominey","am","dempsey","ld","et","al","mutations","in","the","rod","domains","of","keratins","1","10","hyperkeratosis","science","1992","257","1128","30","m","ller","fb","huber","kinaciyan","t","a","human","keratin","knockout","causes","recessive","hum","mol","genet","2006","15","1133","41"],"treatment":"Small molecules, siRNA, repurposed drugs.","id":"KRT10-nEDD-epidermolytic"},{"additionalCutaneousFeatures":"Histopathology: Extensive serrated thickening of the stratum corneum and prominent papillomatosis without epidermolysis.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Eskin-Schwartz M, Drozhdina M, Sarig O et al. 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Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin. 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Epidermolysis bullosa simplex with keratoderma of the palms and soles. J Am Acad Dermatol 1985; 12:1040-4.","gene":"KRT14","gene_lowercase":"krt14","imageUrl":"","inheritance":"AD, AR","keyClinicalClues":"Blistering/painful PPK from infancy.","newName":"KRT14-pEDD-EBS","onset":"Infancy","pathway":"Structural Proteins","previousName":"Epidermolysis bullosa simplex","references":"Haber (1985)","searchKeywords":["krt14","pedd","ebs","epidermolysis","bullosa","simplex","structural","proteins","blistering","painful","ppk","from","infancy","haber","rm","ramsay","ca","boxall","lb","with","keratoderma","of","the","palms","and","soles","j","am","acad","dermatol","1985","12","1040","4"],"id":"KRT14-pEDD-EBS"},{"additionalCutaneousFeatures":"More palmar involvement than other PC variants; extent of nail thickening variant-specific; splinter haemorrhages in nails.","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"McLean WH, Rugg EL, Lunny DP et al. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet 1995; 9:273-8.","gene":"KRT16","gene_lowercase":"krt16","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s2_c.jpeg","inheritance":"AD","keyClinicalClues":"Painful, focal plantar keratoderma, sometimes striate on palms, nail thickening.","newName":"KRT16-pEDD-PC","onset":"Childhood","pathway":"Structural Proteins","photoCaption":"KRT16-pEDD: focal plantar calluses with surrounding erythema.","photos":[{"caption":"KRT16-pEDD: focal plantar calluses with surrounding erythema.","figure":"Figure 1","figureUrl":"https://doi.org/10.1093/bjd/ljaf054","panel":"c","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s2_c.jpeg"}],"previousName":"Pachyonychia congenita 1","references":"McLean (1995)","searchKeywords":["krt16","pedd","pc","pachyonychia","congenita","1","structural","proteins","painful","focal","plantar","keratoderma","sometimes","striate","on","palms","nail","thickening","more","palmar","involvement","than","other","variants","extent","of","variant","specific","splinter","haemorrhages","in","nails","sirna","leachman","2010","rapamycin","hickerson","2009","statins","zhao","2011","egfr","inhibitors","greco","2022","botulinum","toxin","koren","2020","mclean","wh","rugg","el","lunny","dp","et","al","keratin","16","and","17","mutations","cause","nat","genet","1995","9","273","8"],"treatment":"siRNA (Leachman, 2010), Rapamycin (Hickerson, 2009), Statins (Zhao, 2011), EGFR inhibitors (Greco, 2022), Botulinum toxin (Koren, 2020).","id":"KRT16-pEDD-PC"},{"additionalCutaneousFeatures":"some pain, follicular accentuation on high-friction areas, nonscarring alopecia (recessive cases)","additionalExtracutaneousFeatures":"history of natal teeth","category":"pEDD","fullReference":"McLean WH, Rugg EL, Lunny DP et al. 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Nat Genet 1995; 9:273-8.","gene":"KRT17","gene_lowercase":"krt17","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s2_e.jpeg","inheritance":"AD, rarely AR","keyClinicalClues":"Focal keratoderma, cysts (steatocystomas), follicular accentuation, natal teeth.","newName":"KRT17-pEDD-PC","onset":"Infancy","pathway":"Structural Proteins","photoCaption":"KRT17-pEDD: toenail dystrophy and steatocystomas on the back.","photos":[{"caption":"KRT17-pEDD: toenail dystrophy and steatocystomas on the back.","figure":"Figure 1","figureUrl":"https://doi.org/10.1093/bjd/ljaf054","panel":"e","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s2_e.jpeg"}],"previousName":"Pachyonychia congenita 2","references":"McLean (1995)","searchKeywords":["krt17","pedd","pc","pachyonychia","congenita","2","structural","proteins","focal","keratoderma","cysts","steatocystomas","follicular","accentuation","natal","teeth","some","pain","on","high","friction","areas","nonscarring","alopecia","recessive","cases","history","of","sirna","leachman","2010","rapamycin","hickerson","2009","statins","zhao","2011","mclean","wh","rugg","el","lunny","dp","et","al","keratin","16","and","17","mutations","cause","nat","genet","1995","9","273","8"],"treatment":"siRNA (Leachman, 2010), Rapamycin (Hickerson, 2009), Statins (Zhao, 2011).","id":"KRT17-pEDD-PC"},{"additionalCutaneousFeatures":"Flares with large bullae. Histopathology: Granular degeneration and sometimes epidermolysis in superficial epidermis.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Rothnagel JA, Traupe H, Wojcik S et al. Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. Nat Genet 1994; 7:485-90.","gene":"KRT2","gene_lowercase":"krt2","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s8_p.jpeg","inheritance":"AD","keyClinicalClues":"Blistering/erosions and erythema at birth, mild scaling without erythroderma, superficial erosion ('moulting').","newName":"KRT2-nEDD","onset":"Birth to infancy","pathway":"Structural proteins","photoCaption":"KRT2-nEDD: diffuse thickening of the skin with areas of superficial detachment in a patient with a darker skin phototype. This typical appearance is due to the presence of epidermolysis in the upper layers of the stratum corneum.","photos":[{"caption":"KRT2-nEDD: diffuse thickening of the skin with areas of superficial detachment in a patient with a darker skin phototype. This typical appearance is due to the presence of epidermolysis in the upper layers of the stratum corneum.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"p","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s8_p.jpeg"},{"caption":"KRT2-nEDD: mild greyish skin thickening on the trunk of a young boy.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"o","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s8_o.jpeg"},{"caption":"KRT2-nEDD: close-up view of lesions showing patchy areas of superficial peeling (Mauserung phenomenon).","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"q","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s8_q.jpeg"}],"previousName":"Superficial epidermolytic ichthyosis","references":"Rothnagel (1994)","searchKeywords":["krt2","nedd","superficial","epidermolytic","ichthyosis","structural","proteins","blistering","erosions","and","erythema","at","birth","mild","scaling","without","erythroderma","erosion","moulting","flares","with","large","bullae","histopathology","granular","degeneration","sometimes","epidermolysis","in","epidermis","small","molecules","sirna","repurposed","drugs","rothnagel","ja","traupe","h","wojcik","s","et","al","mutations","the","rod","domain","of","keratin","2e","patients","bullosa","siemens","nat","genet","1994","7","485","90"],"treatment":"Small molecules, siRNA, repurposed drugs.","id":"KRT2-nEDD"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Haber RM, Ramsay CA, Boxall LB. Epidermolysis bullosa simplex with keratoderma of the palms and soles. J Am Acad Dermatol 1985; 12:1040-4.","gene":"KRT5","gene_lowercase":"krt5","imageUrl":"","inheritance":"AD, AR","keyClinicalClues":"Blistering/painful PPK from infancy.","newName":"KRT5-pEDD-EBS","onset":"Infancy","pathway":"Structural Proteins","previousName":"Epidermolysis bullosa simplex","references":"Haber (1985)","searchKeywords":["krt5","pedd","ebs","epidermolysis","bullosa","simplex","structural","proteins","blistering","painful","ppk","from","infancy","haber","rm","ramsay","ca","boxall","lb","with","keratoderma","of","the","palms","and","soles","j","am","acad","dermatol","1985","12","1040","4"],"id":"KRT5-pEDD-EBS"},{"additionalCutaneousFeatures":"PPK, more prone to blistering associated with calluses, follicular accentuation in high-friction areas","additionalExtracutaneousFeatures":"sharp ear pain ('first bite syndrome') from infancy through childhood, some cases of laryngeal thickening in infancy and childhood (rarely causing airway obstruction), rarely, natal teeth","category":"pEDD","fullReference":"Bowden PE, Haley JL, Kansky A et al. Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nat Genet 1995; 10:363-5.","gene":"KRT6A","gene_lowercase":"krt6a","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s2_d.jpeg","inheritance":"AD","keyClinicalClues":"Painful plantar keratoderma, blistering, 20-nail dystrophy, cysts, oral leucokeratosis, 'first bite syndrome'.","newName":"KRT6A-pEDD-PC","onset":"Infancy","pathway":"Structural Proteins","photoCaption":"KRT6A-pEDD: oral leucokeratosis and focal plantar keratoderma.","photos":[{"caption":"KRT6A-pEDD: oral leucokeratosis and focal plantar keratoderma.","figure":"Figure 1","figureUrl":"https://doi.org/10.1093/bjd/ljaf054","panel":"d","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s2_d.jpeg"}],"previousName":"Pachyonychia congenita 3","references":"Bowden (1995)","searchKeywords":["krt6a","pedd","pc","pachyonychia","congenita","3","structural","proteins","painful","plantar","keratoderma","blistering","20","nail","dystrophy","cysts","oral","leucokeratosis","first","bite","syndrome","ppk","more","prone","to","associated","with","calluses","follicular","accentuation","in","high","friction","areas","sharp","ear","pain","from","infancy","through","childhood","some","cases","of","laryngeal","thickening","and","rarely","causing","airway","obstruction","natal","teeth","sirna","leachman","2010","rapamycin","hickerson","2009","statins","zhao","2011","egfr","inhibitors","greco","2022","botulinum","toxin","koren","2020","bowden","pe","haley","jl","kansky","a","et","al","mutation","type","ii","keratin","gene","k6a","nat","genet","1995","10","363","5"],"treatment":"siRNA (Leachman, 2010), Rapamycin (Hickerson, 2009), Statins (Zhao, 2011), EGFR inhibitors (Greco, 2022), Botulinum toxin (Koren, 2020).","id":"KRT6A-pEDD-PC"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Smith FJ, Jonkman MF, van Goor H et al. A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Hum Mol Genet 1998; 7:1143-8.","gene":"KRT6B","gene_lowercase":"krt6b","imageUrl":"","inheritance":"AD","keyClinicalClues":"Later onset, painful plantar keratoderma, some dystrophic nails.","newName":"KRT6B-pEDD-PC","onset":"Childhood","pathway":"Structural Proteins","previousName":"Pachyonychia congenita 4","references":"Smith (1998)","searchKeywords":["krt6b","pedd","pc","pachyonychia","congenita","4","structural","proteins","later","onset","painful","plantar","keratoderma","some","dystrophic","nails","sirna","leachman","2010","rapamycin","hickerson","2009","statins","zhao","2011","smith","fj","jonkman","mf","van","goor","h","et","al","a","mutation","in","human","keratin","k6b","produces","phenocopy","of","the","k17","disorder","type","2","hum","mol","genet","1998","7","1143","8"],"treatment":"siRNA (Leachman, 2010), Rapamycin (Hickerson, 2009), Statins (Zhao, 2011).","id":"KRT6B-pEDD-PC"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Wilson NJ, Messenger AG, Leachman SA et al. Keratin K6c mutations cause focal palmoplantar keratoderma. J Invest Dermatol 2010; 130:425-9.","gene":"KRT6C","gene_lowercase":"krt6c","imageUrl":"","inheritance":"AD","keyClinicalClues":"Later onset, painful plantar keratoderma, may have only 1-2 dystrophic nails.","newName":"KRT6C-pEDD-PC","onset":"Childhood","pathway":"Structural Proteins","previousName":"PPK, nonepidermolytic, focal or diffuse","references":"Wilson (2010)","searchKeywords":["krt6c","pedd","pc","ppk","nonepidermolytic","focal","or","diffuse","structural","proteins","later","onset","painful","plantar","keratoderma","may","have","only","1","2","dystrophic","nails","wilson","nj","messenger","ag","leachman","sa","et","al","keratin","k6c","mutations","cause","palmoplantar","j","invest","dermatol","2010","130","425","9"],"id":"KRT6C-pEDD-PC"},{"additionalCutaneousFeatures":"Keratoderma and normal hair (distinct from dominant missense variants causing monilethrix).","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Shah K, Ansar M, Mughal Z-U-N et al. Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. J Med Genet 2017; 54:186-9.","gene":"KRT83","gene_lowercase":"krt83","imageUrl":"","inheritance":"AD","keyClinicalClues":"Symmetric plaques mainly on the extremities, expanding and contracting.","newName":"KRT83-nEDD","onset":"Birth","pathway":"Structural proteins","previousName":"Erythrokeratodermia variabilis et progressiva","references":"Shah (2017)","searchKeywords":["krt83","nedd","erythrokeratodermia","variabilis","et","progressiva","structural","proteins","symmetric","plaques","mainly","on","the","extremities","expanding","and","contracting","keratoderma","normal","hair","distinct","from","dominant","missense","variants","causing","monilethrix","shah","k","ansar","m","mughal","z","u","n","al","recessive","progressive","erythrokeratoderma","results","a","homozygous","loss","of","function","mutation","is","allelic","with","j","med","genet","2017","54","186","9"],"id":"KRT83-nEDD"},{"additionalCutaneousFeatures":"Histopathology: Epidermolytic hyperkeratosis/granular degeneration.","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Reis A, Hennies HC, Langbein L et al. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nat Genet 1994; 6:174-9.","gene":"KRT9","gene_lowercase":"krt9","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s2_a.jpeg","inheritance":"AD","keyClinicalClues":"Diffuse PPK with fissuring.","newName":"KRT9-pEDD","onset":"Infancy","pathway":"Structural Proteins","photoCaption":"KRT9-pEDD: typical diffuse plantar keratoderma with fissuring.","photos":[{"caption":"KRT9-pEDD: typical diffuse plantar keratoderma with fissuring.","figure":"Figure 1","figureUrl":"https://doi.org/10.1093/bjd/ljaf054","panel":"a","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s2_a.jpeg"}],"previousName":"Epidermolytic PPK","references":"Reis (1994)","searchKeywords":["krt9","pedd","epidermolytic","ppk","structural","proteins","diffuse","with","fissuring","histopathology","hyperkeratosis","granular","degeneration","botulinum","toxin","koren","2020","reis","a","hennies","hc","langbein","l","et","al","keratin","9","gene","mutations","in","palmoplantar","keratoderma","eppk","nat","genet","1994","6","174"],"treatment":"Botulinum toxin (Koren, 2020).","id":"KRT9-pEDD"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Israeli S, Khamaysi Z, Fuchs-Telem D et al. A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. Am J Hum Genet 2011; 88:482-7.","gene":"LIPN","gene_lowercase":"lipn","imageUrl":"","inheritance":"AR","keyClinicalClues":"Noncongenital generalized scaling.","newName":"LIPN-nEDD","onset":"Late-onset","pathway":"Lipid synthesis and transport","previousName":"Lamellar ichthyosis, CIE, ARCI","references":"Israeli (2011)","searchKeywords":["lipn","nedd","lamellar","ichthyosis","cie","arci","lipid","synthesis","and","transport","noncongenital","generalized","scaling","israeli","s","khamaysi","z","fuchs","telem","d","et","al","a","mutation","in","encoding","epidermal","lipase","n","causes","late","onset","form","of","autosomal","recessive","congenital","am","j","hum","genet","2011","88","482","7"],"id":"LIPN-nEDD"},{"additionalCutaneousFeatures":"keratoderma often worse on palms, history of baby with collodion membrane, fine, generalized scaling that generally improves with age","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Maestrini E, Monaco AP, McGrath JA et al. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nat Genet 1996; 13:70-7.","gene":"LORICRIN","gene_lowercase":"loricrin","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s2_h.jpeg","inheritance":"AD","keyClinicalClues":"Honeycomb keratoderma, pseudoainhum, starfish keratoses; worse on palms; history of collodion baby.","newName":"LORICRIN-pEDD","onset":"Childhood","pathway":"Structural Proteins","photoCaption":"LORICRIN-pEDD: diffuse palmar keratoderma with honeycombing, pseudoainhum of the fingers and autoamputation of the third finger.","photos":[{"caption":"LORICRIN-pEDD: diffuse palmar keratoderma with honeycombing, pseudoainhum of the fingers and autoamputation of the third finger.","figure":"Figure 1","figureUrl":"https://doi.org/10.1093/bjd/ljaf054","panel":"h","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s2_h.jpeg"}],"previousName":"Loricrin keratoderma/Vohwinkel syndrome","references":"Maestrini (1996)","searchKeywords":["loricrin","pedd","keratoderma","vohwinkel","syndrome","structural","proteins","honeycomb","pseudoainhum","starfish","keratoses","worse","on","palms","history","of","collodion","baby","often","with","membrane","fine","generalized","scaling","that","generally","improves","age","maestrini","e","monaco","ap","mcgrath","ja","et","al","a","molecular","defect","in","the","major","component","cornified","cell","envelope","underlies","s","nat","genet","1996","13","70","7"],"id":"LORICRIN-pEDD"},{"additionalCutaneousFeatures":"Focal-to-diffuse keratoderma, alopecia, pseudoainhum","additionalExtracutaneousFeatures":"cataracts, agenesis of the corpus callosum","category":"pEDD","fullReference":"Yang F, Jiang X, Zhu Y et al. Biallelic variants in lanosterol synthase (LSS) cause palmoplantar keratoderma-congenital alopecia syndrome type 2. J Invest Dermatol 2022; 142.2687-94.","gene":"LSS","gene_lowercase":"lss","imageUrl":"","inheritance":"AR","keyClinicalClues":"Focal-to-diffuse keratoderma of palms and soles associated with various other features, including alopecia, cataracts, pseudoainhum and agenesis of the corpus callosum.","newName":"LSS-pEDD","onset":"Childhood","pathway":"Enzymes and their inhibitors","previousName":"PPK and congenital alopecia 2","references":"Yang (2022)","searchKeywords":["lss","pedd","ppk","and","congenital","alopecia","2","enzymes","their","inhibitors","focal","to","diffuse","keratoderma","of","palms","soles","associated","with","various","other","features","including","cataracts","pseudoainhum","agenesis","the","corpus","callosum","yang","f","jiang","x","zhu","y","et","al","biallelic","variants","in","lanosterol","synthase","cause","palmoplantar","syndrome","type","j","invest","dermatol","2022","142","2687","94"],"id":"LSS-pEDD"},{"additionalCutaneousFeatures":"Often born with a collodion membrane; generalized scaling, typically mild; sparse hair showing tiger tail banding under polarized light.","additionalExtracutaneousFeatures":"See TTD group: Failure to thrive, short stature; developmental and speech delay, hearing loss; dysmorphic facies, microcephaly; abnormal teeth; recurrent infections.","category":"sEDD","fullReference":"Botta E, Theil AF, Raams A et al. Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy. Hum Mol Genet 2021; 30:1711-20.","gene":"MARS1","gene_lowercase":"mars1","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_b.jpeg","inheritance":"AR","keyClinicalClues":"Non-photosensitive; Tiger tail banding with polarized light.","newName":"MARS1-sEDD-TTD","onset":"Birth","pathway":"DNA repair","photoCaption":"sEDD-TTD (unspecified-sEDD-TTD): sparse and brittle hair in a young child.","photos":[{"caption":"sEDD-TTD (unspecified-sEDD-TTD): sparse and brittle hair in a young child.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"b","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_b.jpeg"},{"caption":"sEDD-TTD (unspecified-sEDD-TTD): large brown scaling on the leg of a young boy.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"a","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_a.jpeg"},{"caption":"sEDD-TTD (unspecified-sEDD-TTD): the hallmark of TTD is a pattern of light and dark bands (tiger tail banding) seen on the shaft with polarizing microscopy.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"c","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_c.jpeg"}],"previousName":"Trichothiodystrophy 9, nonphotosensitive","references":"Botta (2021)","searchKeywords":["mars1","sedd","ttd","trichothiodystrophy","9","nonphotosensitive","dna","repair","non","photosensitive","tiger","tail","banding","with","polarized","light","often","born","a","collodion","membrane","generalized","scaling","typically","mild","sparse","hair","showing","under","see","group","failure","to","thrive","short","stature","developmental","and","speech","delay","hearing","loss","dysmorphic","facies","microcephaly","abnormal","teeth","recurrent","infections","botta","e","theil","af","raams","et","al","protein","instability","associated","aars1","mutations","causes","hum","mol","genet","2021","30","1711","20"],"id":"MARS1-sEDD-TTD"},{"additionalCutaneousFeatures":"Severe destructive, painful PPK, periorificial and generalized plaques, hair fragility and alopecia, nail dystrophy","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Haghighi A, Scott CA, Poon DS et al. A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. J Invest Dermatol 2013; 133:571-3.","gene":"MBTPS2","gene_lowercase":"mbtps2","imageUrl":"","inheritance":"XLR","keyClinicalClues":"Severe destructive, painful PPK, periorificial plaques, hair fragility, alopecia, nail dystrophy.","newName":"MBTPS2-pEDD","onset":"Birth","pathway":"Enzymes and their inhibitors","previousName":"Olmsted syndrome, X-linked (OLMSX)","references":"Haghighi (2013)","searchKeywords":["mbtps2","pedd","olmsted","syndrome","x","linked","olmsx","enzymes","and","their","inhibitors","severe","destructive","painful","ppk","periorificial","plaques","hair","fragility","alopecia","nail","dystrophy","generalized","haghighi","a","scott","ca","poon","ds","et","al","missense","mutation","in","the","gene","underlies","form","of","j","invest","dermatol","2013","133","571","3"],"id":"MBTPS2-pEDD"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"Photophobia; blepharitis/conjunctivitis; corneal dystrophy.","category":"sEDD","fullReference":"Aten E, Brasz LC, Bornholdt D et al. Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2. 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Severe form (BRESHECK) has multiple congenital anomalies: brain anomalies, developmental delay, growth retardation, skeletal deformities, Hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, kidney dysplasia/hypoplasia.","category":"sEDD","fullReference":"Oeffner F, Fischer G, Happle R et al. IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. 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MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. J Clin Invest 2001; 108:1687-95.","gene":"MPDU1","gene_lowercase":"mpdu1","imageUrl":"","inheritance":"AR","keyClinicalClues":"Erythroderma, skin thickening, scaling; neurological features.","newName":"MPDU1-sEDD-CDG","onset":"Birth","pathway":"Glycosylation","previousName":"Congenital disorder of glycosylation, type If (CDG1F)","references":"Schenk (2001)","searchKeywords":["mpdu1","sedd","cdg","congenital","disorder","of","glycosylation","type","if","cdg1f","erythroderma","skin","thickening","scaling","neurological","features","with","variable","and","patchy","desquamation","sometimes","erythrodermic","failure","to","thrive","ocular","anomalies","contractures","microcephaly","hypotonia","delayed","psychomotor","development","ataxia","seizures","schenk","b","imbach","t","frank","cg","et","al","mutations","underlie","a","novel","human","designated","j","clin","invest","2001","108","1687","95"],"id":"MPDU1-sEDD-CDG"},{"additionalCutaneousFeatures":"Often born with a collodion membrane; generalized scaling, typically mild; sparse hair showing tiger tail banding under polarized light.","additionalExtracutaneousFeatures":"See TTD group: Failure to thrive, short stature; developmental and speech delay, hearing loss; dysmorphic facies, microcephaly; abnormal teeth; recurrent infections.","category":"sEDD","fullReference":"Theil AF, Pines A, Kalayci T et al. Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation. EMBO Mol Med 2023; 15:e17973.","gene":"MPLKIP","gene_lowercase":"mplkip","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_c.jpeg","inheritance":"AR","keyClinicalClues":"Non-photosensitive; Hair and neurological issues.","newName":"MPLKIP-sEDD-TTD","onset":"Birth","pathway":"DNA repair","photoCaption":"sEDD-TTD (unspecified-sEDD-TTD): the hallmark of TTD is a pattern of light and dark bands (tiger tail banding) seen on the shaft with polarizing microscopy.","photos":[{"caption":"sEDD-TTD (unspecified-sEDD-TTD): the hallmark of TTD is a pattern of light and dark bands (tiger tail banding) seen on the shaft with polarizing microscopy.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"c","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_c.jpeg"},{"caption":"sEDD-TTD (unspecified-sEDD-TTD): large brown scaling on the leg of a young boy.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"a","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_a.jpeg"},{"caption":"sEDD-TTD (unspecified-sEDD-TTD): sparse and brittle hair in a young child.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"b","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_b.jpeg"}],"previousName":"Trichothiodystrophy 4, nonphotosensitive","references":"Theil (2023)","searchKeywords":["mplkip","sedd","ttd","trichothiodystrophy","4","nonphotosensitive","dna","repair","non","photosensitive","hair","and","neurological","issues","often","born","with","a","collodion","membrane","generalized","scaling","typically","mild","sparse","showing","tiger","tail","banding","under","polarized","light","see","group","failure","to","thrive","short","stature","developmental","speech","delay","hearing","loss","dysmorphic","facies","microcephaly","abnormal","teeth","recurrent","infections","theil","af","pines","kalayci","t","et","al","associated","maintains","dbr1","levels","for","proper","lariat","debranching","ectodermal","differentiation","embo","mol","med","2023","15","e17973"],"id":"MPLKIP-sEDD-TTD"},{"additionalCutaneousFeatures":"Diffuse PPK","additionalExtracutaneousFeatures":"hearing loss","category":"pEDD","fullReference":"Martin L, Toutain A, Guillen C et al. Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome. Br J Dermatol 2000; 143:876-83.","gene":"MT-TS1","gene_lowercase":"mt-ts1","imageUrl":"","inheritance":"Mitochondrial","keyClinicalClues":"Diffuse PPK with hearing impairment.","newName":"MT-TS1-pEDD","onset":"Infancy","pathway":"Signalling molecules","previousName":"Mitochondrial PPK with hearing impairment","references":"Martin (2000)","searchKeywords":["mt","ts1","pedd","mitochondrial","ppk","with","hearing","impairment","signalling","molecules","diffuse","loss","martin","l","toutain","a","guillen","c","et","al","inherited","palmoplantar","keratoderma","and","sensorineural","deafness","associated","a7445g","point","mutation","in","the","genome","br","j","dermatol","2000","143","876","83"],"id":"MT-TS1-pEDD"},{"additionalCutaneousFeatures":"Lesions presenting at birth are linear, pink-to-red and scaly; disseminated lesions present in adolescence or later, primarily on sun-exposed areas and featuring round-to-oval flat lesions. Histopathology: Thickening of the stratum corneum with a parakeratotic column, cornoid lamella, at the margin of lesions.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Zhang Z, Li C, Wu F et al. Genomic variations of the mevalonate pathway in porokeratosis. Elife 2015; 4:e06322.","gene":"MVD","gene_lowercase":"mvd","imageUrl":"","inheritance":"AD","keyClinicalClues":"Lesions with characteristic double-edge scales (cornoid lamella).","newName":"MVD-nEDD","onset":"Birth to adolescence","pathway":"Lipid synthesis and transport","previousName":"Porokeratosis, disseminated (superficial) actinic, linear, of Mibelli","references":"Zhang (2015)","searchKeywords":["mvd","nedd","porokeratosis","disseminated","superficial","actinic","linear","of","mibelli","lipid","synthesis","and","transport","lesions","with","characteristic","double","edge","scales","cornoid","lamella","presenting","at","birth","are","pink","to","red","scaly","present","in","adolescence","or","later","primarily","on","sun","exposed","areas","featuring","round","oval","flat","histopathology","thickening","the","stratum","corneum","a","parakeratotic","column","margin","topical","cholesterol","lovastatin","atzmony","2020","paller","2011","zhang","z","li","c","wu","f","et","al","genomic","variations","mevalonate","pathway","elife","2015","4","e06322"],"treatment":"Topical cholesterol/lovastatin (Atzmony, 2020; Paller, 2011).","id":"MVD-nEDD"},{"additionalCutaneousFeatures":"Lesions presenting at birth are linear, pink-to-red and scaly; disseminated lesions present in adolescence or later, primarily on sun-exposed areas and featuring round-to-oval flat lesions. 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Elife 2015; 4:e06322.","gene":"MVK","gene_lowercase":"mvk","imageUrl":"","inheritance":"AD","keyClinicalClues":"Lesions with characteristic double-edge scales (cornoid lamella).","newName":"MVK-nEDD","onset":"Birth to adolescence","pathway":"Lipid synthesis and transport","previousName":"Porokeratosis, disseminated (superficial) actinic, linear, of Mibelli","references":"Zhang (2015)","searchKeywords":["mvk","nedd","porokeratosis","disseminated","superficial","actinic","linear","of","mibelli","lipid","synthesis","and","transport","lesions","with","characteristic","double","edge","scales","cornoid","lamella","presenting","at","birth","are","pink","to","red","scaly","present","in","adolescence","or","later","primarily","on","sun","exposed","areas","featuring","round","oval","flat","histopathology","thickening","the","stratum","corneum","a","parakeratotic","column","margin","topical","cholesterol","lovastatin","atzmony","2020","paller","2011","zhang","z","li","c","wu","f","et","al","genomic","variations","mevalonate","pathway","elife","2015","4","e06322"],"treatment":"Topical cholesterol/lovastatin (Atzmony, 2020; Paller, 2011).","id":"MVK-nEDD"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Lefèvre C, Bouadjar B, Karaduman A et al. Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet 2004, 13:2473-82. || Hotz A, Fölster-Holst R, Oji V et al. Erythrokeratodermia variabilis-like phenotype in patients carrying ABCA12 mutations. Genes (Basel) 2024; 15:288.","gene":"NIPAL4","gene_lowercase":"nipal4","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_h.jpeg","inheritance":"AR","keyClinicalClues":"Moderate-to-severe generalized scaling with no, mild or moderate erythema and PPK. Rarely presents with collodion membrane.","newName":"NIPAL4-nEDD","onset":"Birth","pathway":"Lipid synthesis and transport","photoCaption":"NIPAL4-nEDD: reticulated scaling on the abdomen with a brownish hue, creating a pebblestone-like appearance.","photos":[{"caption":"NIPAL4-nEDD: reticulated scaling on the abdomen with a brownish hue, creating a pebblestone-like appearance.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"h","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_h.jpeg"}],"previousName":"Lamellar ichthyosis, CIE, ARCI","references":"Lefèvre (2004), Hotz (2024)","searchKeywords":["nipal4","nedd","lamellar","ichthyosis","cie","arci","lipid","synthesis","and","transport","moderate","to","severe","generalized","scaling","with","no","mild","or","erythema","ppk","rarely","presents","collodion","membrane","lef","vre","c","bouadjar","b","karaduman","a","et","al","mutations","in","ichthyin","new","gene","on","chromosome","5q33","form","of","autosomal","recessive","congenital","hum","mol","genet","2004","13","2473","82","hotz","f","lster","holst","r","oji","v","erythrokeratodermia","variabilis","like","phenotype","patients","carrying","abca12","genes","basel","2024","15","288"],"id":"NIPAL4-nEDD"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Komlosi K, Glocker C, Hsu-Rehder H-H et al. Autosomal dominant lamellar ichthyosis due to a missense mutation in the gene NKPD1. J Invest Dermatol 2024; 144:2754-63.","gene":"NKPD1","gene_lowercase":"nkpd1","imageUrl":"","inheritance":"AD","keyClinicalClues":"Generalized mild lamellar scaling and mild PPK.","newName":"NKPD1-nEDD","onset":"Birth","pathway":"Lipid synthesis and transport","previousName":"Autosomal dominant lamellar ichthyosis","references":"Komlosi (2024)","searchKeywords":["nkpd1","nedd","autosomal","dominant","lamellar","ichthyosis","lipid","synthesis","and","transport","generalized","mild","scaling","ppk","komlosi","k","glocker","c","hsu","rehder","h","et","al","due","to","a","missense","mutation","in","the","gene","j","invest","dermatol","2024","144","2754","63"],"id":"NKPD1-nEDD"},{"additionalCutaneousFeatures":"itchy lichenoid papules on the arms, legs and lower trunk, palmoplantar nodules can ulcerate and resemble keratoacanthomas and regress spontaneously (over palms)","additionalExtracutaneousFeatures":"occasionally, SCC (Squamous cell carcinoma), hoarseness caused by laryngeal dyskeratosis, inflammatory conjunctivitis","category":"pEDD","fullReference":"Zhong FL, Mamai O, Sborgi L et al. Germline NLRP1 mutations cause skin inflammatory and cancer susceptibility syndromes via inflammasome activation. 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Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet 2000; 90:339-46. || Traupe H, Has C. The Conradi-Hünermann-Happle syndrome is caused by mutations in the gene that encodes a 8-7 sterol isomerase and is biochemically related to the CHILD syndrome. Eur J Dermatol 2000; 10:425-8. || Bornholdt D, König A, Happle R et al. Mutational spectrum of NSDHL in CHILD syndrome. J Med Genet 2005; 42:e17.","gene":"NSDHL","gene_lowercase":"nsdhl","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s4_d.jpeg","inheritance":"XLD","keyClinicalClues":"Unilateral patterned skin erythema/thickening and limb deformities.","newName":"NSDHL-sEDD-CHILD","onset":"Birth","pathway":"Lipid synthesis and transport","photoCaption":"NSDHL-sEDD-CHILD: 4-year-old girl with linear red thickened plaques on the back and extending to the arm.","photos":[{"caption":"NSDHL-sEDD-CHILD: 4-year-old girl with linear red thickened plaques on the back and extending to the arm.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"d","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s4_d.jpeg"},{"caption":"NSDHL-sEDD-CHILD: 3-year-old girl with bony defects, especially of the left third digit, and a verrucous xanthoma involving the proximal area of the finger.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"f","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s4_f.jpeg"}],"previousName":"Congenital hemidysplasia-ichthyosiform naevus-limb defect (CHILD) syndrome","references":"König (2000), Traupe (2000), Bornholdt (2005)","searchKeywords":["nsdhl","sedd","child","congenital","hemidysplasia","ichthyosiform","naevus","limb","defect","syndrome","lipid","synthesis","and","transport","unilateral","patterned","skin","erythema","thickening","deformities","unique","lateralization","pattern","of","well","demarcated","blaschkoid","to","broad","bands","erythematous","scaling","plaques","variable","extent","onychorrhexis","if","digital","involvement","prominent","bone","defects","shortened","proximal","bones","other","anomalies","cardiovascular","urogenital","neurological","ipsilateral","thyroid","or","adrenal","gland","hypoplasia","topical","combination","statin","cholesterol","paller","2011","k","nig","a","happle","r","bornholdt","d","et","al","mutations","in","the","gene","encoding","3beta","hydroxysteroid","dehydrogenase","cause","am","j","med","genet","2000","90","339","46","traupe","h","has","c","conradi","nermann","is","caused","by","that","encodes","8","7","sterol","isomerase","biochemically","related","eur","dermatol","10","425","mutational","spectrum","2005","42","e17"],"treatment":"Topical combination of statin and cholesterol (Paller, 2011).","id":"NSDHL-sEDD-CHILD"},{"additionalCutaneousFeatures":"Susceptibility to cutaneous fungal infection.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Duchatelet S, Boyden LM, Ishida-Yamamoto A et al. Mutations in PERP cause dominant and recessive keratoderma. J Invest Dermatol 2019; 139:380-90.","gene":"PERP","gene_lowercase":"perp","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s9_f.jpeg","inheritance":"AD, AR","keyClinicalClues":"PPK extending to the dorsal surface of the hands and feet (transgrediens), thickened erythematous plaques on the trunk, yellow hair and nail dystrophy. Recessive cases affect whole body.","newName":"PERP-nEDD-AR","onset":"Infancy","pathway":"Structural proteins","photoCaption":"PERP-nEDD-AR: diffuse and rough thickening of the soles extending to the lateral aspects of the feet (classically referred to as transgrediens). Note the onychodystrophy of the first toenail on the left foot, as well as diffuse dark hyperpigmentation in the adjacent areas.","photos":[{"caption":"PERP-nEDD-AR: diffuse and rough thickening of the soles extending to the lateral aspects of the feet (classically referred to as transgrediens). Note the onychodystrophy of the first toenail on the left foot, as well as diffuse dark hyperpigmentation in the adjacent areas.","figure":"Figure 2","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"f","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s9_f.jpeg"}],"previousName":"Erythrokeratodermia variabilis et progressiva","references":"Duchatelet (2019)","searchKeywords":["perp","nedd","ar","erythrokeratodermia","variabilis","et","progressiva","structural","proteins","ppk","extending","to","the","dorsal","surface","of","hands","and","feet","transgrediens","thickened","erythematous","plaques","on","trunk","yellow","hair","nail","dystrophy","recessive","cases","affect","whole","body","susceptibility","cutaneous","fungal","infection","duchatelet","s","boyden","lm","ishida","yamamoto","a","al","mutations","in","cause","dominant","keratoderma","j","invest","dermatol","2019","139","380","90"],"id":"PERP-nEDD-AR"},{"additionalCutaneousFeatures":"Woolly (often yellowish) hair, periorificial plaques, cheilitis, dystrophic nails, transgradiens keratoderma","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Duchatelet S, Boyden LM, Ishida-Yamamoto A et al. 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Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. Am J Hum Genet 2002; 70:612-24. || Fallatah W, Schouten M, Yergeau C et al. Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata. J Inherit Metab Dis 2021; 44:1021-38.","gene":"PEX7","gene_lowercase":"pex7","imageUrl":"","inheritance":"AR","keyClinicalClues":"FLG-nEDD-like scaling.","newName":"PEX7-sEDD","onset":"Childhood","pathway":"Lipid synthesis and transport","previousName":"Peroxisome biogenesis disorder","references":"Motley (2002), Fallatah (2021)","searchKeywords":["pex7","sedd","peroxisome","biogenesis","disorder","lipid","synthesis","and","transport","flg","nedd","like","scaling","peripheral","neuropathy","retinitis","pigmentosa","cataracts","motley","am","brites","p","gerez","l","et","al","mutational","spectrum","in","the","gene","functional","analysis","of","mutant","alleles","78","patients","with","rhizomelic","chondrodysplasia","punctata","type","1","j","hum","genet","2002","70","612","24","fallatah","w","schouten","m","yergeau","c","clinical","biochemical","molecular","characterization","mild","nonclassic","inherit","metab","dis","2021","44","1021","38"],"id":"PEX7-sEDD"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"Neuroectodermal defects, microcephaly, CNS anomalies (lissencephaly, cerebellar hypoplasia, agenesis of corpus callosum), nystagmus, neuropathy, limb deformities, hypoplastic lungs, oedema, abnormal facial features (proptosis, ectropion, hypertelorism, micrognathia, malformed ears). Early lethality.","category":"sEDD","fullReference":"Debs S, Ferreira CR, Groden C et al. Adult diagnosis of congenital serine biosynthesis defect: a treatable cause of progressive neuropathy. Am J Med Genet A. 2021; 185:2102-7. || Takeichi T, Okuno Y, Kawamoto A et al. Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency. J Lipid Res 2018; 59:2413-20. || Bourgon N, Chen R, Grange G et al. Neu Laxova syndrome and megacystis in the first trimester: broadening the fetal phenotype. Prenat Diagn 2023; 43:1666-70. || Jain PV, Maxey J, Lawlor MW, Parsons LN. Putting it all together: postmortem diagnosis of a rare ichthyosis syndrome. Cureus 2023; 15:e38787. || Acuna-Hidalgo R. Schanze D, Kariminejad A et al. Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. Am J Hum Genet 2014; 95:285-93. || Shen Y, Peng Y, Huang P et al. Juvenile-onset PSAT1-related neuropathy: a milder phenotype of serine deficiency disorder. 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Inherited disorders of fatty alcohol metabolism. Mol Genet Metab 1998; 65:63-73.","gene":"PHYH","gene_lowercase":"phyh","imageUrl":"","inheritance":"AR","keyClinicalClues":"FLG-nEDD-like scaling with pigmentation.","newName":"PHYH-sEDD","onset":"Childhood","pathway":"Lipid synthesis and transport","previousName":"Refsum syndrome","references":"Rizzo (1998)","searchKeywords":["phyh","sedd","refsum","syndrome","lipid","synthesis","and","transport","flg","nedd","like","scaling","with","pigmentation","generalized","polygonal","accentuation","of","thickening","at","frictional","areas","improves","during","adulthood","retinitis","pigmentosa","peripheral","neuritis","anosmia","cerebellar","ataxia","deafness","short","metacarpals","metatarsals","rizzo","wb","inherited","disorders","fatty","alcohol","metabolism","mol","genet","metab","1998","65","63","73"],"id":"PHYH-sEDD"},{"additionalCutaneousFeatures":"Earlier: Migratory scaly erythematous dermatosis. Later: Thickened leathery skin. PPK; may have sparse hair, in some, skin changes are only manifestation.","additionalExtracutaneousFeatures":"Colobomas, congenital heart defects, developmental delay, ear anomalies; brachycephaly, prominent forehead, short philtrum, hypertelorism, webbed neck; conductive hearing loss; widely spaced teeth, bifid incisor; occasional renal and neurological abnormalities.","category":"sEDD","fullReference":"Ng BG, Hackmann K, Jones MA et al. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet 2012; 90:685-8. || Zunich J, Esterly NB, Kaye Cl. Autosomal recessive transmission of neuroectodermal syndrome. Arch Dermatol 1988; 124:1188-9.","gene":"PIGL","gene_lowercase":"pigl","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s4_k.jpeg","inheritance":"AR","keyClinicalClues":"Migratory plaques with peripheral scale.","newName":"PIGL-sEDD-CHIME","onset":"Birth","pathway":"Lipid synthesis and transport","photoCaption":"PIGL-sEDD-CHIME: sharply marginated and figurate erythematous plaques on the posterior aspects of the lower legs in an adolescent boy.","photos":[{"caption":"PIGL-sEDD-CHIME: sharply marginated and figurate erythematous plaques on the posterior aspects of the lower legs in an adolescent boy.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"k","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s4_k.jpeg"}],"previousName":"Colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation and ear anomalies (CHIME) syndrome","references":"Ng (2012), Zunich (1988)","searchKeywords":["pigl","sedd","chime","colobomas","congenital","heart","defects","migratory","ichthyosiform","dermatosis","mental","retardation","and","ear","anomalies","syndrome","lipid","synthesis","transport","plaques","with","peripheral","scale","earlier","scaly","erythematous","later","thickened","leathery","skin","ppk","may","have","sparse","hair","in","some","changes","are","only","manifestation","developmental","delay","brachycephaly","prominent","forehead","short","philtrum","hypertelorism","webbed","neck","conductive","hearing","loss","widely","spaced","teeth","bifid","incisor","occasional","renal","neurological","abnormalities","ng","bg","hackmann","k","jones","ma","et","al","mutations","the","glycosylphosphatidylinositol","gene","cause","am","j","hum","genet","2012","90","685","8","zunich","esterly","nb","kaye","cl","autosomal","recessive","transmission","of","neuroectodermal","arch","dermatol","1988","124","1188","9"],"id":"PIGL-sEDD-CHIME"},{"additionalCutaneousFeatures":"Skin fragility, perioral fissuring, scarring alopecia, nail dystrophy, painful PPK","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"McGrath JA, McMillan JR, Shemanko CS et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 1997; 17:240-4.","gene":"PKP1","gene_lowercase":"pkp1","imageUrl":"","inheritance":"AR","keyClinicalClues":"Skin fragility, perioral fissuring, scarring alopecia, nail dystrophy, painful PPK.","newName":"PKP1-pEDD","onset":"Infancy","pathway":"Structural Proteins","previousName":"Ectodermal dysplasia/skin fragility syndrome","references":"McGrath (1997)","searchKeywords":["pkp1","pedd","ectodermal","dysplasia","skin","fragility","syndrome","structural","proteins","perioral","fissuring","scarring","alopecia","nail","dystrophy","painful","ppk","mcgrath","ja","mcmillan","jr","shemanko","cs","et","al","mutations","in","the","plakophilin","1","gene","result","nat","genet","1997","17","240","4"],"id":"PKP1-pEDD"},{"additionalCutaneousFeatures":"Lesions presenting at birth are linear, pink-to-red and scaly; disseminated lesions present in adolescence or later, primarily on sun-exposed areas and featuring round-to-oval flat lesions. Histopathology: Thickening of the stratum corneum with a parakeratotic column, cornoid lamella, at the margin of lesions.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Zhang Z, Li C, Wu F et al. Genomic variations of the mevalonate pathway in porokeratosis. Elife 2015; 4:e06322.","gene":"PMVK","gene_lowercase":"pmvk","imageUrl":"","inheritance":"AD","keyClinicalClues":"Lesions with characteristic double-edge scales (cornoid lamella).","newName":"PMVK-nEDD","onset":"Birth to adolescence","pathway":"Lipid synthesis and transport","previousName":"Porokeratosis, disseminated (superficial) actinic, linear, of Mibelli","references":"Zhang (2015)","searchKeywords":["pmvk","nedd","porokeratosis","disseminated","superficial","actinic","linear","of","mibelli","lipid","synthesis","and","transport","lesions","with","characteristic","double","edge","scales","cornoid","lamella","presenting","at","birth","are","pink","to","red","scaly","present","in","adolescence","or","later","primarily","on","sun","exposed","areas","featuring","round","oval","flat","histopathology","thickening","the","stratum","corneum","a","parakeratotic","column","margin","topical","cholesterol","lovastatin","atzmony","2020","paller","2011","zhang","z","li","c","wu","f","et","al","genomic","variations","mevalonate","pathway","elife","2015","4","e06322"],"treatment":"Topical cholesterol/lovastatin (Atzmony, 2020; Paller, 2011).","id":"PMVK-nEDD"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Grall A, Guaguère E, Planchais S et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet 2012; 44:140-7.","gene":"PNPLA1","gene_lowercase":"pnpla1","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_i.jpeg","inheritance":"AR","keyClinicalClues":"Collodion membrane at birth, generalized mild scaling; more severe lamellar scaling is rare.","newName":"PNPLA1-nEDD","onset":"Birth","pathway":"Lipid synthesis and transport","photoCaption":"PNPLA1-nEDD: sharply demarcated scaly erythema on the legs (formerly known as erythrokeratodermia variabilis et progressiva).","photos":[{"caption":"PNPLA1-nEDD: sharply demarcated scaly erythema on the legs (formerly known as erythrokeratodermia variabilis et progressiva).","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"i","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_i.jpeg"},{"caption":"PNPLA1-nEDD: widespread scaling on the trunk and upper extremity, with mild underlying erythema.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"j","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_j.jpeg"}],"previousName":"Lamellar ichthyosis, CIE, ARCI","references":"Grall (2012)","searchKeywords":["pnpla1","nedd","lamellar","ichthyosis","cie","arci","lipid","synthesis","and","transport","collodion","membrane","at","birth","generalized","mild","scaling","more","severe","is","rare","grall","a","guagu","re","e","planchais","s","et","al","mutations","cause","autosomal","recessive","congenital","in","golden","retriever","dogs","humans","nat","genet","2012","44","140","7"],"id":"PNPLA1-nEDD"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Dahlqvist J, Klar J, Tiwari N et al. A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis. Am J Hum Genet 2010; 86:596-603.","gene":"POMP","gene_lowercase":"pomp","imageUrl":"","inheritance":"AR","keyClinicalClues":"Generalized or localized skin thickening and erythema, PPK and keratotic papules in a linear arrangement, knee and elbow folds have thickening with a cerebriform appearance.","newName":"POMP-nEDD","onset":"Birth","pathway":"Miscellaneous","previousName":"KLICK syndrome","references":"Dahlqvist (2010)","searchKeywords":["pomp","nedd","klick","syndrome","miscellaneous","generalized","or","localized","skin","thickening","and","erythema","ppk","keratotic","papules","in","a","linear","arrangement","knee","elbow","folds","have","with","cerebriform","appearance","dahlqvist","j","klar","tiwari","n","et","al","single","nucleotide","deletion","the","5","utr","causes","transcriptional","switch","altered","epidermal","proteasome","distribution","genodermatosis","am","hum","genet","2010","86","596","603"],"id":"POMP-nEDD"},{"additionalCutaneousFeatures":"Oral leucokeratosis, follicular accentuation, focal PPK","additionalExtracutaneousFeatures":"family history of oesophageal cancer","category":"pEDD","fullReference":"Blaydon DC, Etheridge SL, Risk JM et al. RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Am J Hum Genet 2012; 90:340-6.","gene":"RHBDF2","gene_lowercase":"rhbdf2","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s2_g.jpeg","inheritance":"AD","keyClinicalClues":"Oral leucokeratosis, follicular accentuation, family history of oesophageal cancer, focal PPK.","newName":"RHBDF2-pEDD","onset":"Childhood","pathway":"Signalling molecules","photoCaption":"RHBDF2-pEDD: focal plantar keratoderma.","photos":[{"caption":"RHBDF2-pEDD: focal plantar keratoderma.","figure":"Figure 1","figureUrl":"https://doi.org/10.1093/bjd/ljaf054","panel":"g","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s2_g.jpeg"}],"previousName":"Tylosis oesophageal cancer","references":"Blaydon (2012)","searchKeywords":["rhbdf2","pedd","tylosis","oesophageal","cancer","signalling","molecules","oral","leucokeratosis","follicular","accentuation","family","history","of","focal","ppk","blaydon","dc","etheridge","sl","risk","jm","et","al","mutations","are","associated","with","a","familial","esophageal","syndrome","am","j","hum","genet","2012","90","340","6"],"id":"RHBDF2-pEDD"},{"additionalCutaneousFeatures":"Often born with a collodion membrane; generalized scaling, typically mild; sparse hair showing tiger tail banding under polarized light.","additionalExtracutaneousFeatures":"See TTD group: Failure to thrive, short stature; developmental and speech delay, hearing loss; dysmorphic facies, microcephaly; abnormal teeth; recurrent infections.","category":"sEDD","fullReference":"Morice-Picard F, Cario-André M, Rezvani H et al. New clinico-genetic classification of trichothiodystrophy. Am J Med Genet A 2009 149A:2020-30.","gene":"RNF113A","gene_lowercase":"rnf113a","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_a.jpeg","inheritance":"XLD","keyClinicalClues":"Non-photosensitive; Hair and neurological issues.","newName":"RNF113A-sEDD-TTD","onset":"Birth","pathway":"DNA repair","photoCaption":"sEDD-TTD (unspecified-sEDD-TTD): large brown scaling on the leg of a young boy.","photos":[{"caption":"sEDD-TTD (unspecified-sEDD-TTD): large brown scaling on the leg of a young boy.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"a","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_a.jpeg"},{"caption":"sEDD-TTD (unspecified-sEDD-TTD): sparse and brittle hair in a young child.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"b","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_b.jpeg"},{"caption":"sEDD-TTD (unspecified-sEDD-TTD): the hallmark of TTD is a pattern of light and dark bands (tiger tail banding) seen on the shaft with polarizing microscopy.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"c","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_c.jpeg"}],"previousName":"Trichothiodystrophy 5, nonphotosensitive","references":"Morice-Picard (2009)","searchKeywords":["rnf113a","sedd","ttd","trichothiodystrophy","5","nonphotosensitive","dna","repair","non","photosensitive","hair","and","neurological","issues","often","born","with","a","collodion","membrane","generalized","scaling","typically","mild","sparse","showing","tiger","tail","banding","under","polarized","light","see","group","failure","to","thrive","short","stature","developmental","speech","delay","hearing","loss","dysmorphic","facies","microcephaly","abnormal","teeth","recurrent","infections","morice","picard","f","cario","andr","m","rezvani","h","et","al","new","clinico","genetic","classification","of","am","j","med","genet","2009","149a","2020","30"],"id":"RNF113A-sEDD-TTD"},{"additionalCutaneousFeatures":"Scleroatrophy of fingers, absent dermatoglyphics","additionalExtracutaneousFeatures":"sex reversal, SCC (Squamous cell carcinoma)","category":"pEDD","fullReference":"Parma P, Radi O, Vidal V et al. R-spondin1 is essential in sex determination, skin differentiation and malignancy. Nat Genet 2006; 38:1304-9.","gene":"RSPO1","gene_lowercase":"rspo1","imageUrl":"","inheritance":"AR","keyClinicalClues":"Scleroatrophy of fingers, absent dermatoglyphics; sex reversal; SCC.","newName":"RSPO1-pEDD","onset":"Infancy","pathway":"Signalling molecules","previousName":"Palmoplantar skin thickening with SCC of skin and sex reversal","references":"Parma (2006)","searchKeywords":["rspo1","pedd","palmoplantar","skin","thickening","with","scc","of","and","sex","reversal","signalling","molecules","scleroatrophy","fingers","absent","dermatoglyphics","squamous","cell","carcinoma","parma","p","radi","o","vidal","v","et","al","r","spondin1","is","essential","in","determination","differentiation","malignancy","nat","genet","2006","38","1304","9"],"id":"RSPO1-pEDD"},{"additionalCutaneousFeatures":"Macular hypo- and hyperpigmentation, reticulate on limbs, dystrophic nails","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Courcet JB, Elalaoui SC, Duplomb L et al. Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma. Eur J Hum Genet 2015; 23: 957-62.","gene":"SASH1","gene_lowercase":"sash1","imageUrl":"","inheritance":"AR","keyClinicalClues":"Macular hypo- and hyperpigmentation, reticulate on limbs, dystrophic nails and PPK.","newName":"SASH1-pEDD","onset":"Infancy","pathway":"Signalling molecules","previousName":"Cancer, alopecia, pigment dyscrasia, onychodystrophy and keratoderma","references":"Courcet (2015)","searchKeywords":["sash1","pedd","cancer","alopecia","pigment","dyscrasia","onychodystrophy","and","keratoderma","signalling","molecules","macular","hypo","hyperpigmentation","reticulate","on","limbs","dystrophic","nails","ppk","courcet","jb","elalaoui","sc","duplomb","l","et","al","autosomal","recessive","variants","associated","with","a","new","genodermatosis","pigmentation","defects","palmoplantar","skin","carcinoma","eur","j","hum","genet","2015","23","957","62"],"id":"SASH1-pEDD"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Shigehara Y, Okuda S, Nemer G et al. Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. Hum Mol Genet 2016; 25:4484-93.","gene":"SDR9C7","gene_lowercase":"sdr9c7","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_k.jpeg","inheritance":"AR","keyClinicalClues":"Fine semi-adherent greyish-white scales on the trunk and extremities, scaling over the knees and dorsal hands, PPK.","newName":"SDR9C7-nEDD","onset":"Birth","pathway":"Lipid synthesis and transport","photoCaption":"SDR9C7-nEDD: brownish-hued scales on the anterior legs and knees.","photos":[{"caption":"SDR9C7-nEDD: brownish-hued scales on the anterior legs and knees.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"k","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_k.jpeg"}],"previousName":"Lamellar ichthyosis, ARCI","references":"Shigehara (2016)","searchKeywords":["sdr9c7","nedd","lamellar","ichthyosis","arci","lipid","synthesis","and","transport","fine","semi","adherent","greyish","white","scales","on","the","trunk","extremities","scaling","over","knees","dorsal","hands","ppk","shigehara","y","okuda","s","nemer","g","et","al","mutations","in","gene","encoding","an","enzyme","for","vitamin","a","metabolism","underlie","autosomal","recessive","congenital","hum","mol","genet","2016","25","4484","93"],"id":"SDR9C7-nEDD"},{"additionalCutaneousFeatures":"extending from the palms and soles to the dorsum of the hands and feet, the inner wrists and the Achilles tendon area, aquagenic","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Mohamad J, Sarig O, Malki L et al. Loss-of-function variants in SERPINA12 underlie autosomal recessive palmoplantar keratoderma. J Invest Dermatol 2020; 140:2178-87.","gene":"SERPINA12","gene_lowercase":"serpina12","imageUrl":"","inheritance":"AR","keyClinicalClues":"Diffuse and transgradient erythema/thickening; aquagenic.","newName":"SERPINA12-pEDD","onset":"Early childhood","pathway":"Enzymes and their inhibitors","previousName":"Autosomal recessive PPK","references":"Mohamad (2020)","searchKeywords":["serpina12","pedd","autosomal","recessive","ppk","enzymes","and","their","inhibitors","diffuse","transgradient","erythema","thickening","aquagenic","extending","from","the","palms","soles","to","dorsum","of","hands","feet","inner","wrists","achilles","tendon","area","potential","for","kallikrein","mohamad","j","sarig","o","malki","l","et","al","loss","function","variants","in","underlie","palmoplantar","keratoderma","invest","dermatol","2020","140","2178","87"],"treatment":"Potential for Kallikrein inhibitors.","id":"SERPINA12-pEDD"},{"additionalCutaneousFeatures":"More common in people of East Asian ancestry, aquagenic","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Kubo A, Shiohama A, Sasaki T et al. Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis. Am J Hum Genet 2013; 93:945-56.","gene":"SERPINB7","gene_lowercase":"serpinb7","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s3_a.jpeg","inheritance":"AR","keyClinicalClues":"Erythema, less skin thickening, common dermatophyte superinfection; worsening upon immersion in water (aquagenic).","newName":"SERPINB7-pEDD","onset":"Infancy","pathway":"Enzymes and their inhibitors","photoCaption":"SERPINB7-pEDD: the upper panel before immersion in water shows typical mild, diffuse, erythematous palmar keratoderma; the lower panel shows a white, spongy appearance after immersion in water.","photos":[{"caption":"SERPINB7-pEDD: the upper panel before immersion in water shows typical mild, diffuse, erythematous palmar keratoderma; the lower panel shows a white, spongy appearance after immersion in water.","figure":"Figure 2","figureUrl":"https://doi.org/10.1093/bjd/ljaf054","panel":"a","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s3_a.jpeg"}],"previousName":"PPK, Nagashima type","references":"Kubo (2013)","searchKeywords":["serpinb7","pedd","ppk","nagashima","type","enzymes","and","their","inhibitors","erythema","less","skin","thickening","common","dermatophyte","superinfection","worsening","upon","immersion","in","water","aquagenic","more","people","of","east","asian","ancestry","topical","gentamicin","for","nonsense","mutations","ohguchi","2018","kubo","a","shiohama","sasaki","t","et","al","encoding","member","the","serine","protease","inhibitor","superfamily","cause","palmoplantar","keratosis","am","j","hum","genet","2013","93","945","56"],"treatment":"Topical gentamicin for nonsense mutations (Ohguchi, 2018).","id":"SERPINB7-pEDD"},{"additionalCutaneousFeatures":"Histopathology: Acanthosis, thickening of the stratum corneum, disadhesion of keratinocytes in the basal and suprabasal layers of the epidermis with intercellular space widening.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Pigors M, Sarig O, Heinz L et al. Loss-of-function mutations in SERPINB8 linked to exfoliative ichthyosis with impaired mechanical stability of intercellular adhesions. Am J Hum Genet 2016; 99:430-6.","gene":"SERPINB8","gene_lowercase":"serpinb8","imageUrl":"","inheritance":"AR","keyClinicalClues":"PPK with skin peeling most prominent over the hands, feet and lower extremities.","newName":"SERPINB8-nEDD","onset":"Childhood","pathway":"Enzymes","previousName":"Peeling skin syndrome","references":"Pigors (2016)","searchKeywords":["serpinb8","nedd","peeling","skin","syndrome","enzymes","ppk","with","most","prominent","over","the","hands","feet","and","lower","extremities","histopathology","acanthosis","thickening","of","stratum","corneum","disadhesion","keratinocytes","in","basal","suprabasal","layers","epidermis","intercellular","space","widening","pigors","m","sarig","o","heinz","l","et","al","loss","function","mutations","linked","to","exfoliative","ichthyosis","impaired","mechanical","stability","adhesions","am","j","hum","genet","2016","99","430","6"],"id":"SERPINB8-nEDD"},{"additionalCutaneousFeatures":"peeling over feet and limbs","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Pigors M, Sarig O, Heinz L et al. Loss-of-function mutations in SERPINB8 linked to exfoliative ichthyosis with impaired mechanical stability of intercellular adhesions. Am J Hum Genet 2016; 99:430-6.","gene":"SERPINB8","gene_lowercase":"serpinb8","imageUrl":"","inheritance":"AR","keyClinicalClues":"PPK associated with peeling over feet and limbs.","newName":"SERPINB8-pEDD","onset":"Infancy","pathway":"Enzymes and their inhibitors","previousName":"Peeling skin syndrome 5/exfoliative ichthyosis","references":"Pigors (2016)","searchKeywords":["serpinb8","pedd","peeling","skin","syndrome","5","exfoliative","ichthyosis","enzymes","and","their","inhibitors","ppk","associated","with","over","feet","limbs","pigors","m","sarig","o","heinz","l","et","al","loss","of","function","mutations","in","linked","to","impaired","mechanical","stability","intercellular","adhesions","am","j","hum","genet","2016","99","430","6"],"id":"SERPINB8-pEDD"},{"additionalCutaneousFeatures":"Skin thickening.","additionalExtracutaneousFeatures":"Adrenal insufficiency, nephrotic syndrome, neurological defects, immunodeficiency, skeletal abnormalities.","category":"sEDD","fullReference":"Smith CJ, Williams JL, Hall C et al. Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation. J Lipid Res 2023; 64:100351. || Lovric S, Goncalves S, Gee HY et al. Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. J Clin Invest 2017; 127:912-28.","gene":"SGPL1","gene_lowercase":"sgpl1","imageUrl":"","inheritance":"AR","keyClinicalClues":"Generalized scaling, hyperpigmentation.","newName":"SGPL1-sEDD","onset":"Infancy","pathway":"Lipid synthesis and transport","previousName":"RENI syndrome, sphingosine 1-phosphate lyase insufficiency (SPLIS)","references":"Smith (2023), Lovric (2017)","searchKeywords":["sgpl1","sedd","reni","syndrome","sphingosine","1","phosphate","lyase","insufficiency","splis","lipid","synthesis","and","transport","generalized","scaling","hyperpigmentation","skin","thickening","adrenal","nephrotic","neurological","defects","immunodeficiency","skeletal","abnormalities","smith","cj","williams","jl","hall","c","et","al","ichthyosis","linked","to","is","due","aberrant","sphingolipid","calcium","regulation","j","res","2023","64","100351","lovric","s","goncalves","gee","hy","mutations","in","cause","nephrosis","with","clin","invest","2017","127","912","28"],"id":"SGPL1-sEDD"},{"additionalCutaneousFeatures":"Lesions presenting at birth are linear, pink-to-red and scaly; disseminated lesions present in adolescence or later, primarily on sun-exposed areas and featuring round-to-oval flat lesions. Histopathology: Thickening of the stratum corneum with a parakeratotic column, cornoid lamella, at the margin of lesions.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Cui H, Li L, Wang W et al. Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis. J Med Genet 2014; 51:699-704.","gene":"SLC17A9","gene_lowercase":"slc17a9","imageUrl":"","inheritance":"AD","keyClinicalClues":"Lesions with characteristic double-edge scales (cornoid lamella).","newName":"SLC17A9-nEDD","onset":"Birth to adolescence","pathway":"Lipid synthesis and transport","previousName":"Porokeratosis, disseminated (superficial) actinic, linear, of Mibelli","references":"Cui (2014)","searchKeywords":["slc17a9","nedd","porokeratosis","disseminated","superficial","actinic","linear","of","mibelli","lipid","synthesis","and","transport","lesions","with","characteristic","double","edge","scales","cornoid","lamella","presenting","at","birth","are","pink","to","red","scaly","present","in","adolescence","or","later","primarily","on","sun","exposed","areas","featuring","round","oval","flat","histopathology","thickening","the","stratum","corneum","a","parakeratotic","column","margin","topical","cholesterol","lovastatin","atzmony","2020","paller","2011","cui","h","li","l","wang","w","et","al","exome","sequencing","identifies","pathogenic","gene","two","chinese","pedigrees","j","med","genet","2014","51","699","704"],"treatment":"Topical cholesterol/lovastatin (Atzmony, 2020; Paller, 2011).","id":"SLC17A9-nEDD"},{"additionalCutaneousFeatures":"Symptoms likely secondary to massive desquamation in utero.","additionalExtracutaneousFeatures":"Prematurity and neonatal asphyxia.","category":"nEDD","fullReference":"Klar J, Schweiger M, Zimmerman R et al. Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. Am J Hum Genet 2009; 85:248-53. || Esperón-Moldes US, Ginarte M, Santamariña M et al. Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters. Acta Paediatr 2019; 108:763-5. || Sobol M, Dahl N, Klar J. FATP4 missense and nonsense mutations cause similar features in ichthyosis prematurity syndrome. BMC Res Notes 2011; 4:90.","gene":"SLC27A4","gene_lowercase":"slc27a4","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_p.jpeg","inheritance":"AR","keyClinicalClues":"Thick, vernix-like covering at birth, especially on scalp, prematurity, neonatal respiratory distress, eosinophilia, persistent pruritus.","newName":"SLC27A4-nEDD","onset":"Birth","pathway":"Lipid synthesis and transport","photoCaption":"SLC27A4-nEDD: this neonate was born prematurely weighing 1990g after ultrasound evaluation in the second trimester of pregnancy showed polyhydramnios. Severe respiratory distress was noted at birth and at day 1 of age, the thick caseous desquamating skin was noted on scalp, back and extremities.","photos":[{"caption":"SLC27A4-nEDD: this neonate was born prematurely weighing 1990g after ultrasound evaluation in the second trimester of pregnancy showed polyhydramnios. Severe respiratory distress was noted at birth and at day 1 of age, the thick caseous desquamating skin was noted on scalp, back and extremities.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"p","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_p.jpeg"}],"previousName":"Ichthyosis prematurity syndrome","references":"Klar (2009), Esperón-Moldes (2019), Sobol (2011)","searchKeywords":["slc27a4","nedd","ichthyosis","prematurity","syndrome","lipid","synthesis","and","transport","thick","vernix","like","covering","at","birth","especially","on","scalp","neonatal","respiratory","distress","eosinophilia","persistent","pruritus","symptoms","likely","secondary","to","massive","desquamation","in","utero","asphyxia","klar","j","schweiger","m","zimmerman","r","et","al","mutations","the","fatty","acid","protein","4","gene","cause","am","hum","genet","2009","85","248","53","esper","n","moldes","us","ginarte","santamari","a","novel","compound","heterozygous","fatp4","caused","spanish","sisters","acta","paediatr","2019","108","763","5","sobol","dahl","missense","nonsense","similar","features","bmc","res","notes","2011","90"],"id":"SLC27A4-nEDD"},{"additionalCutaneousFeatures":"Macerated, white/ivory diffuse, transgradient keratoderma, periorificial involvement, often bacterial/fungal superinfection, nail dystrophy","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Fischer J, Bouadjar B, Heilig R et al. Mutations in the gene encoding SLURP-1 in Mal de Meleda. Hum Mol Genet 2001; 10:875-80.","gene":"SLURP1","gene_lowercase":"slurp1","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s3_i.jpeg","inheritance":"AR","keyClinicalClues":"Macerated, white/ivory diffuse, transgradient keratoderma; periorificial involvement; superinfection; nail dystrophy.","newName":"SLURP1-pEDD","onset":"Infancy","pathway":"Signalling molecules","photoCaption":"SLURP1-pEDD: diffuse, macerated, transgradient palmoplantar keratoderma.","photos":[{"caption":"SLURP1-pEDD: diffuse, macerated, transgradient palmoplantar keratoderma.","figure":"Figure 2","figureUrl":"https://doi.org/10.1093/bjd/ljaf054","panel":"i","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s3_i.jpeg"}],"previousName":"Mal de Meleda","references":"Fischer (2001)","searchKeywords":["slurp1","pedd","mal","de","meleda","signalling","molecules","macerated","white","ivory","diffuse","transgradient","keratoderma","periorificial","involvement","superinfection","nail","dystrophy","often","bacterial","fungal","fischer","j","bouadjar","b","heilig","r","et","al","mutations","in","the","gene","encoding","slurp","1","hum","mol","genet","2001","10","875","80"],"id":"SLURP1-pEDD"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"pEDD","fullReference":"Vodo D, Sarig O, Jeddah D et al. Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype. Br J Dermatol 2018; 178:1455-7.","gene":"SLURP1","gene_lowercase":"slurp1","imageUrl":"","inheritance":"AR","keyClinicalClues":"Multiple circumscribed, hyperkeratotic and hyperpigmented papules on the dorsal and lateral aspect of the hands, digits and soles.","newName":"SLURP1-pEDD-acrokeratoelastoidosis","onset":"Childhood","pathway":"Signalling molecules","previousName":"Punctate PPK III (PPPK III)","references":"Vodo (2018)","searchKeywords":["slurp1","pedd","acrokeratoelastoidosis","punctate","ppk","iii","pppk","signalling","molecules","multiple","circumscribed","hyperkeratotic","and","hyperpigmented","papules","on","the","dorsal","lateral","aspect","of","hands","digits","soles","vodo","d","sarig","o","jeddah","et","al","palmoplantar","keratoderma","an","unusual","mutation","causing","phenotype","br","j","dermatol","2018","178","1455","7"],"id":"SLURP1-pEDD-acrokeratoelastoidosis"},{"additionalCutaneousFeatures":"Scleroatrophy of fingers, absent dermatoglyphics, milia during first months of life, localized hypohidrosis, marked clinical variability","additionalExtracutaneousFeatures":"SCC (Squamous cell carcinoma)","category":"pEDD","fullReference":"Gunther C, Lee-Kirsch MA, Eckhard J et al. SMARCAD1 haploinsufficiency underlies Huriez syndrome and associated skin cancer susceptibility. J Invest Dermatol 2018; 138:1428-31.","gene":"SMARCAD1","gene_lowercase":"smarcad1","imageUrl":"","inheritance":"AD","keyClinicalClues":"Scleroatrophy of fingers, absent dermatoglyphics, milia; SCC; localized hypohidrosis.","newName":"SMARCAD1-pEDD","onset":"Childhood","pathway":"Transcription factors","previousName":"Huriez syndrome","references":"Gunther (2018)","searchKeywords":["smarcad1","pedd","huriez","syndrome","transcription","factors","scleroatrophy","of","fingers","absent","dermatoglyphics","milia","scc","localized","hypohidrosis","during","first","months","life","marked","clinical","variability","squamous","cell","carcinoma","gunther","c","lee","kirsch","ma","eckhard","j","et","al","haploinsufficiency","underlies","and","associated","skin","cancer","susceptibility","invest","dermatol","2018","138","1428","31"],"id":"SMARCAD1-pEDD"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"Cerebral dysgenesis/microcephaly, neuropathy, sensorineural deafness, optic nerve atrophy; cachexia; may be lethal during first decade of life.","category":"sEDD","fullReference":"Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M et al. A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. Am J Hum Genet 2005; 77:242-51.","gene":"SNAP29","gene_lowercase":"snap29","imageUrl":"","inheritance":"AR","keyClinicalClues":"Progressive polygonal scaling and skin thickening with PPK; fine, sparse hair.","newName":"SNAP29-sEDD","onset":"Infancy","pathway":"Membrane sorting/vesicular trafficking","previousName":"Cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma (CEDNIK) syndrome","references":"Sprecher (2005)","searchKeywords":["snap29","sedd","cerebral","dysgenesis","neuropathy","ichthyosis","and","palmoplantar","keratoderma","cednik","syndrome","membrane","sorting","vesicular","trafficking","progressive","polygonal","scaling","skin","thickening","with","ppk","fine","sparse","hair","microcephaly","sensorineural","deafness","optic","nerve","atrophy","cachexia","may","be","lethal","during","first","decade","of","life","sprecher","e","ishida","yamamoto","a","mizrahi","koren","m","et","al","mutation","in","coding","for","snare","protein","involved","intracellular","causes","novel","neurocutaneous","characterized","by","am","j","hum","genet","2005","77","242","51"],"id":"SNAP29-sEDD"},{"additionalCutaneousFeatures":"Most born with erythroderma and exfoliative scaling. With age, many become less erythrodermic. Papillomas (especially men and anogenital region), SCC, and BCC can occur; some harbour HPV.","additionalExtracutaneousFeatures":"Early hyponatraemic dehydration; failure to thrive; GI complications (chronic diarrhoea, malabsorption, eosinophilic oesophagitis); atopy (asthma, allergic rhinitis, conjunctivitis, angioedema); variable immune deficiencies.","category":"sEDD","fullReference":"Bitoun E, Chavanas S, Irvine AD et al. Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol 2002; 118:352-61.","gene":"SPINK5","gene_lowercase":"spink5","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s1_c.jpeg","inheritance":"AR","keyClinicalClues":"Erythroderma to ichthyosis linearis circumflexa (ILC); intense pruritus; sparse, brittle, breakable hair (trichorrhexis invaginata).","newName":"SPINK5-sEDD","onset":"Birth","pathway":"Enzymes","photoCaption":"Well-demarcated small pink plaques grouped in serpiginous configurations with distinctive scaling borders [ichthyosis linearis circumflexa (ILC)] in SPINK5-sEDD (ILC clinical subtype).","photos":[{"caption":"Well-demarcated small pink plaques grouped in serpiginous configurations with distinctive scaling borders [ichthyosis linearis circumflexa (ILC)] in SPINK5-sEDD (ILC clinical subtype).","figure":"Figure 1","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"c","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s1_c.jpeg"},{"caption":"SPINK5-sEDD: a newborn presenting with erythroderma, skin fragility and failure to thrive.","figure":"Figure 1","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"a","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s1_a.jpeg"},{"caption":"Erythroderma with fine scaling in SPINK5-sEDD (erythrodermic clinical subtype).","figure":"Figure 1","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"b","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s1_b.jpeg"},{"caption":"SPINK5-sEDD: alopecia with broken hairs of various lengths.","figure":"Figure 1","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"d","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s1_d.jpeg"},{"caption":"SPINK5-sEDD: dermoscopy of the eyebrows showing broken hair shafts and trichorrhexis invaginate.","figure":"Figure 1","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"e","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s1_e.jpeg"},{"caption":"Extensive linear and scaly serpiginous lesions on the lower limbs of a patient with skin of colour in SPINK5-sEDD (ILC clinical subtype).","figure":"Figure 1","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"f","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s1_f.jpeg"},{"caption":"SPINK5-sEDD: erythroderma with fine extensive white superficial scaling of the trunk (ILC clinical subtype).","figure":"Figure 1","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"g","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s1_g.jpeg"},{"caption":"SPINK5-sEDD: periocular plaques in an affected child. Note the broken and sparse eyebrows [dermoscopy shown in (e)].","figure":"Figure 1","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"i","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s1_i.jpeg"},{"caption":"SPINK5-sEDD: desquamation of the extremities – superficial exfoliation on the palm and fingers of a child. The linear desquamation along the edges of the palms is also a common finding.","figure":"Figure 1","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"j","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s1_j.jpeg"}],"previousName":"Netherton syndrome","references":"Bitoun (2002)","searchKeywords":["spink5","sedd","netherton","syndrome","enzymes","erythroderma","to","ichthyosis","linearis","circumflexa","ilc","intense","pruritus","sparse","brittle","breakable","hair","trichorrhexis","invaginata","most","born","with","and","exfoliative","scaling","age","many","become","less","erythrodermic","papillomas","especially","men","anogenital","region","scc","bcc","can","occur","some","harbour","hpv","early","hyponatraemic","dehydration","failure","thrive","gi","complications","chronic","diarrhoea","malabsorption","eosinophilic","oesophagitis","atopy","asthma","allergic","rhinitis","conjunctivitis","angioedema","variable","immune","deficiencies","current","biologics","il","4r","12","23","17a","oral","jaki","lefferdink","2023","luchsinger","2020","li","emerging","topical","or","systemic","kallikrein","inhibitors","liddle","2021","lekti","protein","gene","correction","bitoun","e","chavanas","s","irvine","ad","et","al","disease","expression","spectrum","of","mutations","in","21","families","j","invest","dermatol","2002","118","352","61"],"treatment":"Current: Biologics (IL-4R, IL-12/23, IL-17A), oral JAKi (Lefferdink, 2023; Luchsinger, 2020; Li, 2023). Emerging: Topical or systemic kallikrein inhibitors (Liddle, 2021), topical LEKTI protein, gene correction.","id":"SPINK5-sEDD"},{"additionalCutaneousFeatures":"Dry skin with variable eczematous dermatitis; PPK; hyperpigmentation over knees and acral sites; sometimes hypertrichosis.","additionalExtracutaneousFeatures":"Dysmorphic facies; colobomata, hypertelorism, nystagmus, optic disc hypoplasia, variable visual loss; delayed intellectual and motor development, brain anomalies; pituitary gland hypoplasia; microcytic anaemia, coagulation defects, antithrombin III deficiency.","category":"sEDD","fullReference":"Kamarus Jaman N, Rehsi P, Henderson RH et al. SRD5A3-CDG: emerging phenotypic features of an ultrarare CDG subtype. Front Genet 2021; 12:737094.","gene":"SRD5A3","gene_lowercase":"srd5a3","imageUrl":"","inheritance":"AR","keyClinicalClues":"Generalized scaling with PPK; hypertrichosis; eye issues; developmental delay.","newName":"SRD5A3-sEDD-CDG","onset":"Birth","pathway":"Glycosylation","previousName":"Congenital disorder of glycosylation, type 1q (CDG1Q)","references":"Kamarus Jaman (2021)","searchKeywords":["srd5a3","sedd","cdg","congenital","disorder","of","glycosylation","type","1q","cdg1q","generalized","scaling","with","ppk","hypertrichosis","eye","issues","developmental","delay","dry","skin","variable","eczematous","dermatitis","hyperpigmentation","over","knees","and","acral","sites","sometimes","dysmorphic","facies","colobomata","hypertelorism","nystagmus","optic","disc","hypoplasia","visual","loss","delayed","intellectual","motor","development","brain","anomalies","pituitary","gland","microcytic","anaemia","coagulation","defects","antithrombin","iii","deficiency","kamarus","jaman","n","rehsi","p","henderson","rh","et","al","emerging","phenotypic","features","an","ultrarare","subtype","front","genet","2021","12","737094"],"id":"SRD5A3-sEDD-CDG"},{"additionalCutaneousFeatures":"Resembles mild MBTPS2-sEDD; sparse-to-no body hair (noncicatricial).","additionalExtracutaneousFeatures":"Photophobia with corneal lesions.","category":"sEDD","fullReference":"Wang H, Humbatova A, Liu Y et al. Mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal-dominant IFAP syndrome. Am J Hum Genet 2020; 107:34-45.","gene":"SREBF1","gene_lowercase":"srebf1","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_h.jpeg","inheritance":"AD","keyClinicalClues":"Follicular keratoses; sparse-to-no body hair; gingival erythema, fissured tongue.","newName":"SREBF1-sEDD","onset":"Birth","pathway":"Transcription factor","photoCaption":"SREBF1-sEDD: typical bright red gingiva.","photos":[{"caption":"SREBF1-sEDD: typical bright red gingiva.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"h","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_h.jpeg"}],"previousName":"Ichthyosis, follicular, with atrichia and photophobia syndrome 2","references":"Wang (2020)","searchKeywords":["srebf1","sedd","ichthyosis","follicular","with","atrichia","and","photophobia","syndrome","2","transcription","factor","keratoses","sparse","to","no","body","hair","gingival","erythema","fissured","tongue","resembles","mild","mbtps2","noncicatricial","corneal","lesions","wang","h","humbatova","a","liu","y","et","al","mutations","in","encoding","sterol","regulatory","element","binding","1","cause","autosomal","dominant","ifap","am","j","hum","genet","2020","107","34","45"],"id":"SREBF1-sEDD"},{"additionalCutaneousFeatures":"Generalized desquamative scaling overlying variable erythema; hypohidrosis.","additionalExtracutaneousFeatures":"Photophobia and blepharitis (often not present).","category":"sEDD","fullReference":"Alef T, Torres S, Hausser I et al. Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. J Invest Dermatol 2009; 129:862-9.","gene":"ST14","gene_lowercase":"st14","imageUrl":"","inheritance":"AR","keyClinicalClues":"Generalized desquamative scaling; follicular atrophoderma; short, light-coloured, sometimes curly hair.","newName":"ST14-sEDD","onset":"Birth","pathway":"Enzymes","previousName":"Ichthyosis-hypotrichosis syndrome","references":"Alef (2009)","searchKeywords":["st14","sedd","ichthyosis","hypotrichosis","syndrome","enzymes","generalized","desquamative","scaling","follicular","atrophoderma","short","light","coloured","sometimes","curly","hair","overlying","variable","erythema","hypohidrosis","photophobia","and","blepharitis","often","not","present","alef","t","torres","s","hausser","i","et","al","caused","by","mutations","in","is","associated","with","impaired","profilaggrin","processing","j","invest","dermatol","2009","129","862","9"],"id":"ST14-sEDD"},{"additionalCutaneousFeatures":"Ichthyosis often not mentioned in reports.","additionalExtracutaneousFeatures":"Short stature, miosis, deep-set eyes, hypotelorism, prominent nose, epistaxis, splenic abnormalities, muscle contractile defect, myopathy, headache, bleeding tendency due to platelet dysfunction, thrombocytopenia, anaemia.","category":"sEDD","fullReference":"Misceo D, Holmgren A, Louch WE et al. A dominant STIM1 mutation causes Stormorken syndrome. Hum Mutat 2014; 35:556-64.","gene":"STIM1","gene_lowercase":"stim1","imageUrl":"","inheritance":"AD","keyClinicalClues":"Fine generalized scaling beginning during childhood.","newName":"STIM1-sEDD","onset":"Usually childhood","pathway":"Channels","previousName":"Stormorken syndrome","references":"Misceo (2014)","searchKeywords":["stim1","sedd","stormorken","syndrome","channels","fine","generalized","scaling","beginning","during","childhood","ichthyosis","often","not","mentioned","in","reports","short","stature","miosis","deep","set","eyes","hypotelorism","prominent","nose","epistaxis","splenic","abnormalities","muscle","contractile","defect","myopathy","headache","bleeding","tendency","due","to","platelet","dysfunction","thrombocytopenia","anaemia","misceo","d","holmgren","a","louch","we","et","al","dominant","mutation","causes","hum","mutat","2014","35","556","64"],"id":"STIM1-sEDD"},{"additionalCutaneousFeatures":"Frequently no skin findings at birth. Later: scales are usually dark, but colour is age- and skin colour-dependent; scales improve in the summer.","additionalExtracutaneousFeatures":"Asymptomatic corneal opacities (in adults), cryptorchidism. Can be associated with attention-deficit hyperactivity disorder (in affected individuals and carriers). Can be associated with heart rhythm abnormalities (atrial fibrillation/flutter).","category":"sEDD","fullReference":"Rodrigo-Nicolás B, Bueno-Martinez E, Martin-Santiago A et al. Evidence of the high prevalence of neurological disorders in nonsyndromic X-linked recessive ichthyosis: a retrospective case series. Br J Dermatol 2018; 179:933-9. || Brcic L, Underwood JF, Kendall KM et al. Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank. J Med Genet 2020; 57:692-8.","gene":"STS","gene_lowercase":"sts","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s4_a.jpeg","inheritance":"X-linked","keyClinicalClues":"Generalized medium-large, thick polygonal scales; fine scaling periauricular ('dirty appearance').","newName":"STS-sEDD","onset":"Infancy","pathway":"Lipid synthesis and transport","photoCaption":"STS-sEDD: dark-brown polygonal scaling predominantly observed on the anterior aspects of the lower legs, characteristic of patients with this disorder.","photos":[{"caption":"STS-sEDD: dark-brown polygonal scaling predominantly observed on the anterior aspects of the lower legs, characteristic of patients with this disorder.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"a","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s4_a.jpeg"},{"caption":"STS-sEDD: dark polygonal scaling on the upper extremities and trunk, with scales typically smaller than those on the lower legs.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"b","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s4_b.jpeg"},{"caption":"STS-sEDD: fine scaling in the retroauricular area, creating the characteristic ‘dirty’ appearance.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"c","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s4_c.jpeg"}],"previousName":"X-linked ichthyosis","references":"Rodrigo-Nicolás (2018), Brcic (2020)","searchKeywords":["sts","sedd","x","linked","ichthyosis","lipid","synthesis","and","transport","generalized","medium","large","thick","polygonal","scales","fine","scaling","periauricular","dirty","appearance","frequently","no","skin","findings","at","birth","later","are","usually","dark","but","colour","is","age","dependent","improve","in","the","summer","asymptomatic","corneal","opacities","adults","cryptorchidism","can","be","associated","with","attention","deficit","hyperactivity","disorder","affected","individuals","carriers","heart","rhythm","abnormalities","atrial","fibrillation","flutter","rodrigo","nicol","s","b","bueno","martinez","e","martin","santiago","a","et","al","evidence","of","high","prevalence","neurological","disorders","nonsyndromic","recessive","retrospective","case","series","br","j","dermatol","2018","179","933","9","brcic","l","underwood","jf","kendall","km","medical","neurobehavioural","phenotypes","genetic","deletions","uk","biobank","med","genet","2020","57","692","8"],"id":"STS-sEDD"},{"additionalCutaneousFeatures":"STS-sEDD-like scaling.","additionalExtracutaneousFeatures":"Variable features of anosmia, hypogonadism (hypogonadotropic hypogonadism, formerly Kallmann syndrome), intellectual and developmental delay (due to larger deletion comprising Xp22.3 including KALI (ANOS1) and sometimes other genes).","category":"sEDD","fullReference":"Berges-Raso I, Giménez-Palop O, Gabau E et al. Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome. Endocrinol Diabetes Metab Case Rep 2017; 2017:EDM170083. || Diociaiuti A, Angioni A, Pisaneschi E et al. X-linked ichthyosis: clinical and molecular findings in 35 Italian patients. Exp Dermatol 2019: 28:1156-63.","gene":"STS + others","gene_lowercase":"sts + others","imageUrl":"","inheritance":"X-linked","keyClinicalClues":"Retention scaling.","newName":"STS-sEDD contiguous gene","onset":"Infancy","pathway":"Lipid synthesis and transport","previousName":"Recessive X-linked ichthyosis with contiguous gene deletion syndrome","references":"Berges-Raso (2017), Diociaiuti (2019)","searchKeywords":["sts","sedd","contiguous","gene","recessive","x","linked","ichthyosis","with","deletion","syndrome","others","lipid","synthesis","and","transport","retention","scaling","like","variable","features","of","anosmia","hypogonadism","hypogonadotropic","formerly","kallmann","intellectual","developmental","delay","due","to","larger","comprising","xp22","3","including","kali","anos1","sometimes","other","genes","berges","raso","i","gim","nez","palop","o","gabau","e","et","al","a","case","endocrinol","diabetes","metab","rep","2017","edm170083","diociaiuti","angioni","pisaneschi","clinical","molecular","findings","in","35","italian","patients","exp","dermatol","2019","28","1156","63"],"id":"STS-sEDD contiguous gene"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Heinz L, Kim G-J, Marrakchi S et al. Mutations in SULT2B1 cause autosomal-recessive congenital ichthyosis in humans. Am J Hum Genet 2017; 100:926-39.","gene":"SULT2B1","gene_lowercase":"sult2b1","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_a.jpeg","inheritance":"AR","keyClinicalClues":"Collodion membrane, generalized desquamation with large dark scales.","newName":"SULT2B1-nEDD","onset":"Birth","pathway":"Lipid synthesis and transport","photoCaption":"SULT2B1-nEDD: dry, scaly skin and postinflammatory hypopigmentation.","photos":[{"caption":"SULT2B1-nEDD: dry, scaly skin and postinflammatory hypopigmentation.","figure":"Figure 4","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"a","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s7_a.jpeg"}],"previousName":"Lamellar ichthyosis, CIE, ARCI","references":"Heinz (2017)","searchKeywords":["sult2b1","nedd","lamellar","ichthyosis","cie","arci","lipid","synthesis","and","transport","collodion","membrane","generalized","desquamation","with","large","dark","scales","heinz","l","kim","g","j","marrakchi","s","et","al","mutations","in","cause","autosomal","recessive","congenital","humans","am","hum","genet","2017","100","926","39"],"id":"SULT2B1-nEDD"},{"additionalCutaneousFeatures":"Generalized darker polygonal scaling (STS-sEDD-like).","additionalExtracutaneousFeatures":"Mental retardation with psychomotor regression; skeletal anomalies; organomegaly; median age at death: 13 years.","category":"sEDD","fullReference":"Schlotawa L, Preiskorn J, Ahrens-Nicklas R et al. A systernatic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency. J Inherit Metab Dis 2020; 43:1288-97.","gene":"SUMF1","gene_lowercase":"sumf1","imageUrl":"","inheritance":"AR","keyClinicalClues":"STS-sEDD (X-linked)-like scale retention.","newName":"SUMF1-sEDD","onset":"Birth to infancy","pathway":"Lipid synthesis and transport","previousName":"Multiple sulfatase deficiency","references":"Schlotawa (2020)","searchKeywords":["sumf1","sedd","multiple","sulfatase","deficiency","lipid","synthesis","and","transport","sts","x","linked","like","scale","retention","generalized","darker","polygonal","scaling","mental","retardation","with","psychomotor","regression","skeletal","anomalies","organomegaly","median","age","at","death","13","years","schlotawa","l","preiskorn","j","ahrens","nicklas","r","et","al","a","systernatic","review","meta","analysis","of","published","cases","reveals","the","natural","disease","history","in","inherit","metab","dis","2020","43","1288","97"],"id":"SUMF1-sEDD"},{"additionalCutaneousFeatures":"Often born with a collodion membrane; generalized scaling, typically mild; sparse hair showing tiger tail banding under polarized light.","additionalExtracutaneousFeatures":"See TTD group: Failure to thrive, short stature; developmental and speech delay, hearing loss; dysmorphic facies, microcephaly; abnormal teeth; recurrent infections.","category":"sEDD","fullReference":"Theil AF, Botta E, Raams A et al. Bi-allelic TARS mutations are associated with brittle hair phenotype. Am J Hum Genet 2019; 105:434-40.","gene":"TARS","gene_lowercase":"tars","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_a.jpeg","inheritance":"AR","keyClinicalClues":"Non-photosensitive; Tiger tail banding with polarized light.","newName":"TARS-sEDD-TTD","onset":"Birth","pathway":"DNA repair","photoCaption":"sEDD-TTD (unspecified-sEDD-TTD): large brown scaling on the leg of a young boy.","photos":[{"caption":"sEDD-TTD (unspecified-sEDD-TTD): large brown scaling on the leg of a young boy.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"a","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_a.jpeg"},{"caption":"sEDD-TTD (unspecified-sEDD-TTD): sparse and brittle hair in a young child.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"b","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_b.jpeg"},{"caption":"sEDD-TTD (unspecified-sEDD-TTD): the hallmark of TTD is a pattern of light and dark bands (tiger tail banding) seen on the shaft with polarizing microscopy.","figure":"Figure 3","figureUrl":"https://doi.org/10.1093/bjd/ljaf123","panel":"c","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s5_c.jpeg"}],"previousName":"Trichothiodystrophy 7, nonphotosensitive","references":"Theil (2019)","searchKeywords":["tars","sedd","ttd","trichothiodystrophy","7","nonphotosensitive","dna","repair","non","photosensitive","tiger","tail","banding","with","polarized","light","often","born","a","collodion","membrane","generalized","scaling","typically","mild","sparse","hair","showing","under","see","group","failure","to","thrive","short","stature","developmental","and","speech","delay","hearing","loss","dysmorphic","facies","microcephaly","abnormal","teeth","recurrent","infections","theil","af","botta","e","raams","et","al","bi","allelic","mutations","are","associated","brittle","phenotype","am","j","hum","genet","2019","105","434","40"],"id":"TARS-sEDD-TTD"},{"additionalCutaneousFeatures":"painful keratoderma distributed along dermatoglyphics on the finger tips and focal on palmar and plantar surface, may begin as bullae and erosions, sometimes associated with hypotrichosis","additionalExtracutaneousFeatures":"Photophobia, early eye involvement with painful, tearing conjunctivitis and later corneal opacities with ulceration and glaucoma, risk of intellectual disability (ID)","category":"pEDD","fullReference":"Natt E, Kida K, Odievre M et al. Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. Proc Natl Acad Sci USA 1992; 89:9297-301.","gene":"TAT","gene_lowercase":"tat","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s3_d.jpeg","inheritance":"AR","keyClinicalClues":"Photophobia, corneal opacities; painful keratoderma along dermatoglyphics.","newName":"TAT-pEDD","onset":"Early childhood","pathway":"Enzymes and their inhibitors","photoCaption":"TAT-pEDD: fingertip hyperkeratosis following the dermatoglyphics and well-demarcated focal, plantar calluses.","photos":[{"caption":"TAT-pEDD: fingertip hyperkeratosis following the dermatoglyphics and well-demarcated focal, plantar calluses.","figure":"Figure 2","figureUrl":"https://doi.org/10.1093/bjd/ljaf054","panel":"d","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s3_d.jpeg"}],"previousName":"Oculocutaneous tyrosinaemia (tyrosinaemia type II)","references":"Natt (1992)","searchKeywords":["tat","pedd","oculocutaneous","tyrosinaemia","type","ii","enzymes","and","their","inhibitors","photophobia","corneal","opacities","painful","keratoderma","along","dermatoglyphics","distributed","on","the","finger","tips","focal","palmar","plantar","surface","may","begin","as","bullae","erosions","sometimes","associated","with","hypotrichosis","early","eye","involvement","tearing","conjunctivitis","later","ulceration","glaucoma","risk","of","intellectual","disability","id","diet","restricted","in","phenylalanine","tyrosine","natt","e","kida","k","odievre","m","et","al","point","mutations","aminotransferase","gene","tyrosinemia","proc","natl","acad","sci","usa","1992","89","9297","301"],"treatment":"Diet restricted in phenylalanine and tyrosine.","id":"TAT-pEDD"},{"additionalCutaneousFeatures":"Self-improving or self-healing forms sometimes limited to acral areas. Ectropium and eclabium are common. Histopathology (Ultrastructural): malformation of cornified cell envelope and cholesterol clefts within the stratum corneum.","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Huber M, Rettler I, Bernasconi K et al. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 1995; 267:525-8. || Russell LJ, DiGiovanna JJ, Rogers GR et al. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 1995; 9:279-83. || Raghunath M, Hennies H-C, Ahvazi B et al. Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. J Invest Dermatol 2003; 120:224-8. || Oji V, Hautier JM, Ahvazi B et al. Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. Hum Mol Genet 2006; 15:3083-97. || Mazereeuw-Hautier J, Aufenvenne K, Deraison C et al. Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation. Br J Dermatol 2009; 161:456-63.","gene":"TGM1","gene_lowercase":"tgm1","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s10_a.jpeg","inheritance":"AR","keyClinicalClues":"Collodion presentation, mild fine scaling to severe dark large scaling, variable erythroderma. Can be self-improving or temperature-sensitive (bathing suit pattern). Ectropion and/or alopecia can be present.","newName":"TGM1-nEDD","onset":"Birth","pathway":"Enzymes","photoCaption":"TGM1-nEDD: the large scales on the legs appear darker in a patient with a dark skin phototype compared with those seen in patients with lighter skin.","photos":[{"caption":"TGM1-nEDD: the large scales on the legs appear darker in a patient with a dark skin phototype compared with those seen in patients with lighter skin.","figure":"Figure 5","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"a","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s10_a.jpeg"},{"caption":"TGM1-nEDD: large, thickened adherent scales of a pale-brown hue in a patient with a light skin phototype (formerly referred to as lamellar desquamation). Underlying erythema of varying degrees is common.","figure":"Figure 5","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"b","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s10_b.jpeg"},{"caption":"TGM1-nEDD: a patient with a self-improving phenotype showing diffuse thickening of the dorsal hands with pronounced wrinkling. The texture is often rough and the fingers have a slight curvature due to poor skin elasticity.","figure":"Figure 5","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"c","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s10_c.jpeg"},{"caption":"TGM1-nEDD: in a patient with temperature-sensitive variants, large greyish scaling is confined to the bathing suit areas, corresponding to the warmer skin areas.","figure":"Figure 5","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"d","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s10_d.jpeg"},{"caption":"TGM1-nEDD: severe scaling and erythema on the fingers.","figure":"Figure 5","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"e","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s10_e.jpeg"},{"caption":"TGM1-nEDD: alopecia consisting of a recession of the hairline leaving a band of atrophic and shiny skin in a woman.","figure":"Figure 5","figureUrl":"https://doi.org/10.1093/bjd/ljaf154","panel":"f","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s10_f.jpeg"}],"previousName":"Lamellar ichthyosis, CIE, ARCI, self-healing collodion baby, bathing suit ichthyosis","references":"Huber (1995), Russell (1995), Raghunath (2003), Oji (2006), Mazereeuw-Hautier (2009)","searchKeywords":["tgm1","nedd","lamellar","ichthyosis","cie","arci","self","healing","collodion","baby","bathing","suit","enzymes","presentation","mild","fine","scaling","to","severe","dark","large","variable","erythroderma","can","be","improving","or","temperature","sensitive","pattern","ectropion","and","alopecia","present","forms","sometimes","limited","acral","areas","ectropium","eclabium","are","common","histopathology","ultrastructural","malformation","of","cornified","cell","envelope","cholesterol","clefts","within","the","stratum","corneum","topical","application","hsv","type","1","vector","encoding","freedman","2021","huber","m","rettler","i","bernasconi","k","et","al","mutations","keratinocyte","transglutaminase","in","science","1995","267","525","8","russell","lj","digiovanna","jj","rogers","gr","gene","for","autosomal","recessive","nat","genet","9","279","83","raghunath","hennies","h","c","ahvazi","b","a","dynamic","phenotype","explained","by","particular","mutation","j","invest","dermatol","2003","120","224","oji","v","hautier","jm","is","caused","deficiency","evidence","hum","mol","2006","15","3083","97","mazereeuw","aufenvenne","deraison","report","new","clinical","novel","br","2009","161","456","63"],"treatment":"Topical application of HSV type 1 vector encoding TGM1 (Freedman, 2021).","id":"TGM1-nEDD"},{"additionalCutaneousFeatures":"","additionalExtracutaneousFeatures":"","category":"nEDD","fullReference":"Wang H, Xu Z, Lee BH et al. Gain-of-function mutations in TRPM4 activation gate cause progressive symmetric erythrokeratodermia. J Invest Dermatol 2019; 139:1089-97.","gene":"TRPM4","gene_lowercase":"trpm4","imageUrl":"","inheritance":"AD","keyClinicalClues":"Erythematous thickened plaques beginning on the distal extremities and progressing to involve the face, wrists and ankles, with sparing of the volar surfaces; slowly progressive, spontaneous remission after puberty.","newName":"TRPM4-nEDD","onset":"Infancy","pathway":"Channels","previousName":"Erythrokeratodermia variabilis et progressiva","references":"Wang (2019)","searchKeywords":["trpm4","nedd","erythrokeratodermia","variabilis","et","progressiva","channels","erythematous","thickened","plaques","beginning","on","the","distal","extremities","and","progressing","to","involve","face","wrists","ankles","with","sparing","of","volar","surfaces","slowly","progressive","spontaneous","remission","after","puberty","wang","h","xu","z","lee","bh","al","gain","function","mutations","in","activation","gate","cause","symmetric","j","invest","dermatol","2019","139","1089","97"],"id":"TRPM4-nEDD"},{"additionalCutaneousFeatures":"Very painful progressive, mutilating and incapacitating PPK, periorificial plaques, nail dystrophy, hair fragility and alopecia, milder but painful PPK phenotype","additionalExtracutaneousFeatures":"erythromelalgia","category":"pEDD","fullReference":"Lin Z, Chen Q, Lee M et al. Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. Am J Hum Genet 2012; 90:558-64. | Duchatelet S, Pruvost S, de Veer S et al. A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia. JAMA Dermatol 2014; 150:303-6.","gene":"TRPV3","gene_lowercase":"trpv3","imageUrl":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s3_g.jpeg","inheritance":"AD","keyClinicalClues":"Very painful, progressive, mutilating PPK, periorificial plaques, nail dystrophy, alopecia, erythromelalgia.","newName":"TRPV3-pEDD","onset":"Infancy","pathway":"Channels","photoCaption":"TRPV3-pEDD: mutilating, focal, plantar calluses.","photos":[{"caption":"TRPV3-pEDD: mutilating, focal, plantar calluses.","figure":"Figure 2","figureUrl":"https://doi.org/10.1093/bjd/ljaf054","panel":"g","url":"https://storage.googleapis.com/edd-skin.firebasestorage.app/photos/s3_g.jpeg"}],"previousName":"Olmsted syndrome 1 (OLS1)","references":"Lin (2012), Duchatelet (2014)","searchKeywords":["trpv3","pedd","olmsted","syndrome","1","ols1","channels","very","painful","progressive","mutilating","ppk","periorificial","plaques","nail","dystrophy","alopecia","erythromelalgia","and","incapacitating","hair","fragility","milder","but","phenotype","egfr","inhibitors","e","g","erlotinib","greco","2020","zhang","lin","z","chen","q","lee","m","et","al","exome","sequencing","reveals","mutations","in","as","a","cause","of","am","j","hum","genet","2012","90","558","64","duchatelet","s","pruvost","de","veer","new","missense","mutation","patient","with","jama","dermatol","2014","150","303","6"],"treatment":"EGFR inhibitors, e.g., Erlotinib (Greco, 2020; Zhang, 2020).","id":"TRPV3-pEDD"},{"additionalCutaneousFeatures":"Collodion membrane with joint contractures. Later: Generalized erythroderma with oedema and desquamation of fine, thin scale.","additionalExtracutaneousFeatures":"Severe neurological issues with spasticity, hypotonia and contractures; recurrent ocular inflammation; lethal before 1 year.","category":"sEDD","fullReference":"Monies D, Anabrees J, Ibrahim N et al. Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP-glucose ceramide glucosyltransferase deficiency. Clin Genet 2018; 93:1252-3.","gene":"UGCG","gene_lowercase":"ugcg","imageUrl":"","inheritance":"AR","keyClinicalClues":"Collodion membrane; hypernatraemic renal failure; neurological issues and early death.","newName":"UGCG-sEDD","onset":"Birth (early lethal)","pathway":"Lipid synthesis and transport","previousName":"Ichthyosis, congenital, autosomal recessive 15","references":"Monies (2018)","searchKeywords":["ugcg","sedd","ichthyosis","congenital","autosomal","recessive","15","lipid","synthesis","and","transport","collodion","membrane","hypernatraemic","renal","failure","neurological","issues","early","death","with","joint","contractures","later","generalized","erythroderma","oedema","desquamation","of","fine","thin","scale","severe","spasticity","hypotonia","recurrent","ocular","inflammation","lethal","before","1","year","monies","d","anabrees","j","ibrahim","n","et","al","identification","a","novel","form","caused","by","udp","glucose","ceramide","glucosyltransferase","deficiency","clin","genet","2018","93","1252","3"],"id":"UGCG-sEDD"},{"additionalCutaneousFeatures":"Variable scaling, sometimes accentuated over joints; PPK; mild scarring alopecia; ectropion.","additionalExtracutaneousFeatures":"Arthrogryposis (wrist, knee, hip), renal tubular degeneration/proteinuria, metabolic acidosis; hepatic dysfunction with cholestasis; failure to thrive, deafness, platelet dysfunction, brain malformation; often die in childhood.","category":"sEDD","fullReference":"Cullinane AR, Straatman-Iwanowska A, Zaucker A et al. Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. Nat Genet 2010; 42:303-12.","gene":"VIPAS39","gene_lowercase":"vipas39","imageUrl":"","inheritance":"AR","keyClinicalClues":"Fine scaling in combination with cholestasis, metabolic acidosis, renal tubular degeneration.","newName":"VIPAS39-sEDD","onset":"Birth","pathway":"Membrane sorting/vesicular trafficking","previousName":"Arthrogryposis, renal dysfunction, and cholestasis 2 (ARC2)","references":"Cullinane (2010)","searchKeywords":["vipas39","sedd","arthrogryposis","renal","dysfunction","and","cholestasis","2","arc2","membrane","sorting","vesicular","trafficking","fine","scaling","in","combination","with","metabolic","acidosis","tubular","degeneration","variable","sometimes","accentuated","over","joints","ppk","mild","scarring","alopecia","ectropion","wrist","knee","hip","proteinuria","hepatic","failure","to","thrive","deafness","platelet","brain","malformation","often","die","childhood","cullinane","ar","straatman","iwanowska","a","zaucker","et","al","mutations","vipar","cause","an","syndrome","phenotype","defects","epithelial","polarization","nat","genet","2010","42","303","12"],"id":"VIPAS39-sEDD"},{"additionalCutaneousFeatures":"Variable scaling, sometimes accentuated over joints; PPK; mild scarring alopecia; ectropion.","additionalExtracutaneousFeatures":"Arthrogryposis (wrist, knee, hip), renal tubular degeneration/proteinuria, metabolic acidosis; hepatic dysfunction with cholestasis; failure to thrive, deafness, platelet dysfunction, brain malformation; often die in childhood.","category":"sEDD","fullReference":"Gruber R, Rogerson C, Windpassinger C et al. Autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome is caused by VPS33B mutations affecting Rab protein interaction and collagen modification. J Invest Dermato/2017; 137:845-54. || Gissen P, Johnson CA, Morgan NV et al. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet 2004; 36:400-4.","gene":"VPS33B","gene_lowercase":"vps33b","imageUrl":"","inheritance":"AR","keyClinicalClues":"Fine scaling in combination with cholestasis, metabolic acidosis, renal tubular degeneration.","newName":"VPS33B-sEDD","onset":"Birth","pathway":"Membrane sorting/vesicular trafficking","previousName":"Arthrogryposis, renal dysfunction, and cholestasis 1 (ARC1)","references":"Gruber (2017), Gissen (2004)","searchKeywords":["vps33b","sedd","arthrogryposis","renal","dysfunction","and","cholestasis","1","arc1","membrane","sorting","vesicular","trafficking","fine","scaling","in","combination","with","metabolic","acidosis","tubular","degeneration","variable","sometimes","accentuated","over","joints","ppk","mild","scarring","alopecia","ectropion","wrist","knee","hip","proteinuria","hepatic","failure","to","thrive","deafness","platelet","brain","malformation","often","die","childhood","gruber","r","rogerson","c","windpassinger","et","al","autosomal","recessive","keratoderma","ichthyosis","arkid","syndrome","is","caused","by","mutations","affecting","rab","protein","interaction","collagen","modification","j","invest","dermato","2017","137","845","54","gissen","p","johnson","ca","morgan","nv","encoding","a","regulator","of","snare","dependent","fusion","cause","arc","nat","genet","2004","36","400","4"],"id":"VPS33B-sEDD"},{"additionalCutaneousFeatures":"Periocular lesions, apocrine hidrocystomas, mild, diffuse PPK with erythema, may only have PPK","additionalExtracutaneousFeatures":"hypodontia","category":"pEDD","fullReference":"Adaimy L, Chouery E, Megarbane H et al. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. Am J Hum Genet 2007; 81:821-8.","gene":"WNT10A","gene_lowercase":"wnt10a","imageUrl":"","inheritance":"AR","keyClinicalClues":"Periocular lesions, apocrine hidrocystomas; hypodontia; mild, diffuse PPK.","newName":"WNT10A-pEDD","onset":"Childhood","pathway":"Signalling molecules","previousName":"Schopf-Schulz-Passarge syndrome (SSPS)","references":"Adaimy (2007)","searchKeywords":["wnt10a","pedd","schopf","schulz","passarge","syndrome","ssps","signalling","molecules","periocular","lesions","apocrine","hidrocystomas","hypodontia","mild","diffuse","ppk","with","erythema","may","only","have","adaimy","l","chouery","e","megarbane","h","et","al","mutation","in","is","associated","an","autosomal","recessive","ectodermal","dysplasia","the","odonto","onycho","dermal","am","j","hum","genet","2007","81","821","8"],"id":"WNT10A-pEDD"}]