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ALDH3A2-sEDD

Previously: Sjögren-Larsson syndrome (SLS)

sEDD Gene: ALDH3A2 AR

Onset: Birth

Pathway: Lipid synthesis and transport

Category Paper: sEDD Paper

ALDH3A2-sEDD: the dorsal aspect of the hands and fingers shows leathery cutaneous thickening and a yellow hue.

Key Clinical Clues

Thick leathery skin with yellow hue, pruritus; spastic diplegia.

Additional Cutaneous Features

Birth: Scaly, erythematous, thickened, rarely collodion membrane. Later: Thickened, nonerythematous with variable desquamation. Very pruritic, prominent lichenification around flexures.

Additional Extracutaneous Features

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.

References

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.

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