Article
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.
The British journal of dermatology - 1 Sept 1998
Covello S P, Smith F J, Sillevis Smitt J H, Paller A S, Munro C S, Jonkman M F, Uitto J, McLean W H
Abstract excerpt
Pachyonychia congenita type 2 (PC-2; Jackson-Lawler syndrome) is an autosomal dominant disorder characterized by hypertrophic nail dystrophy, mild focal keratoderma, multiple pilosebaceous cysts and other features of ectodermal dysplasia. Keratin 17 (K17) is a differentiation-specific keratin exp...
Topics
- Adolescent
- Adult
- Cysts
- DNA Mutational Analysis
- Female
- Humans
- Keratins
- Mutation
- Mutation, Missense
- Nail Diseases
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Skin Diseases