Congenital ichthyosis with spastic paraplegia of adult onset.
Two siblings had what we believe to be a unique disorder manifested by stationary congenital ichthyosiform erythroderma coupled with a slowly progressive spastic weakness of adult onset. The disorder was presumably inherited as an autosomal recessive trait. The mechanism by which a genetic mutation would mediate this multiple organ system disorder is unknown.
D000328:Adult; D000367:Age Factors; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000150:complications / Q000151:congenital* / Q000235:genetics; D007360:Intelligence; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000150:complications* / Q000235:genetics; D013577:Syndrome