Other names: none
OMIM:270200
Inheritance: autosomal recessive
Incidence: rare
Key findings:
- skin: generalized, small, usually dark scales with underlying erythema; central face is often relatively spared; itching is usual; hair and nails are normal
Associated findings:
- neurologic: spastic di- or tetraplegia; mental retardation is typical; epilepsy (1/3)
- eyes: photophobia and poor vision (common)
- teeth: enamel defects (common)
Age at first appearance: skin changes may be present at birth; usually appear within the first year
Long-term course: scales generally get larger and darker with time and the erythema fades; mental retardation is non-progressive; neuromuscular deficits progress through puberty then stabilize
Diagnostic tests: biochemical measurements on skin fibroblasts; analysis of cellular DNA
Abnormal gene: fatty aldehyde dehydrogenase
