Keratoderma and spastic paralysis.
Punctate keratoderma and spastic paralysis occurred in three generations of a family. Several members had keratoderma of the palms and soles or spastic paralysis or both. The family history was consistent with autosomal-dominant inheritance. The age at onset and the rate of progression of symptoms were variable. The concurrence of these lesions can be interpreted to mean either that the keratoderma and the paraplegia are the pleiotropic effects of the same mutant gene or, less likely, that they are the manifestations of two different autosomal mutations segregating in this family. We are not aware of a similar syndrome having been previously reported.
D000328:Adult; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000150:complications / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000150:complications / Q000235:genetics*; D010375:Pedigree