Article
Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.
The British journal of dermatology - 1 Jun 2004
Terron-Kwiatkowski A, Terrinoni A, Didona B, Melino G, Atherton D J, Irvine A D, McLean W H I
Abstract excerpt
BACKGROUND: Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant genodermatosis characterized by epidermolytic hyperkeratosis strictly confined to the palms and soles, and usually associated with mutations in the keratin K9 gene (KRT9). Mutations in the keratin K1 gene (KRT1) have been shown to underlie a variety of phenotypes typically involving generalized epidermolytic hyperkeratosis, but in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.