KDSR-nEDD

Previously: Erythrokeratodermia variabilis et progressiva, PERIOPTER syndrome

nEDD Gene: KDSR AR

Onset: Birth

Pathway: Lipid synthesis and transport

Category Paper: nEDD Paper

Key Clinical Clues

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.

Additional Cutaneous Features

Histopathology: Remarkable acanthosis, sparse-to-absent keratohyalin granules in the granular layer, parakeratosis.

Additional Extracutaneous Features

About half of patients have haematological symptoms (thrombocytopenia, anaemia), usually transient.

References

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.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer