Article
An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.
Pediatric dermatology - 1 Jan 2000
Yang Catherine S, Lu Yin, Farhi Anita, Nelson-Williams Carol, Kashgarian Michael, Glusac Earl J, Lifton Richard P, Antaya Richard J, Choate Keith A
Abstract excerpt
Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by intense pruritus, nodular or lichenoid lesions, and violaceous linear scarring, most prominently on the extensor extremities. Remarkably, identical mutations in COL7A1, which encodes an anchoring fibril protein present at the dermal-epidermal junction, can cause both DEB and EBP with either...
Topics
- Collagen Type VII
- Epidermolysis Bullosa
- Epidermolysis Bullosa Dystrophica
- Family Health
- Female
- Genes, Dominant
- Humans
- Male
- Mutation, Missense
- Pedigree
- Penetrance
- Phenotype
- Skin