A novel keratin 5 mutation in a familial cluster

Dermatol Online J. 2012 Jun 15;18(6):1.

Abstract

We report a case of epidermolysis bullosa simplex (EBS) associated with a family cluster of EBS and a novel KRT5 mutation. The case is presented in the context of recent advances in the study of the disease.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Epidermolysis Bullosa Simplex / genetics*
  • Female
  • Genotype
  • Humans
  • Keratin-5 / genetics*
  • Mutation, Missense
  • Pedigree

Substances

  • KRT5 protein, human
  • Keratin-5