Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder)

Go to external page http://snomed.info/id/719518004


This is just here as a test because I lose it

Term information

altLabel

Palmoplantar keratoderma and congenital alopecia Stevanovic type

definition

A rare genetic skin disorder with the absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. To date, ten individuals have been reported. Usually presents during infancy with manifestations of fading of facial, scalp and body hair within the first months of life without subsequent re-growth. Body and facial keratosis pilaris are additional features that appear in the following years. Palmoplantar keratoderma develops during infancy and may have an unusual pattern. The genetic basis is unknown. Transmission appears to be autosomal dominant.

prefLabel

Autosomal dominant palmoplantar keratoderma and congenital alopecia