Article
Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif.
The British journal of dermatology - 1 Mar 1999
Coleman C M, Munro C S, Smith F J, Uitto J, McLean W H
Abstract excerpt
Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant genodermatosis characterized by diffuse keratoderma, typically with an erythematous border. Histologically, palmoplantar epidermis shows suprabasal cytolysis and ultrastructurally, tonofilament aggregation with overlying epidermolytic hyperkeratosis. Mutations in the KRT9 gene, encoding keratin 9 (K9), a cytoskeletal protein expressed...
Topics
- Adult
- DNA Mutational Analysis
- DNA Transposable Elements
- Humans
- Keratins
- Keratoderma, Palmoplantar
- Male
- Mutation
- Polymerase Chain Reaction