Article
Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility.
The Journal of clinical investigation - 1 Jul 2009
Coulombe Pierre A, Kerns Michelle L, Fuchs Elaine
Abstract excerpt
Epidermolysis bullosa (EB) simplex is a rare genetic condition typified by superficial bullous lesions that result from frictional trauma to the skin. Most cases are due to dominantly acting mutations in either keratin 14 (K14) or K5, the type I and II intermediate filament (IF) proteins tasked with forming a pancytoplasmic network of 10-nm filaments in basal keratinocytes of the epidermis and in other stratified...
Topics
- Animals
- Epidermolysis Bullosa Simplex
- Genotype
- Humans
- Inflammation
- Keratin-14
- Keratin-5
- Mice
- Mutation
- Phenotype