Epidermolysis bullosa simplex with mottled pigmentation

Dermatol Online J. 2012 Jan 15;18(1):9.

Abstract

Epidermolysis bullosa is a rare disorder with several variants. Included in this disorder is epidermolysis bullosa with mottled pigmentation (EBS-MP). We report a case of a young child with this rare disorder and explain the genetic cause.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Epidermolysis Bullosa Simplex / complications
  • Epidermolysis Bullosa Simplex / diagnosis
  • Epidermolysis Bullosa Simplex / genetics*
  • Humans
  • Keratin-5 / genetics*
  • Male
  • Mutation, Missense
  • Pigmentation Disorders / complications
  • Pigmentation Disorders / diagnosis
  • Pigmentation Disorders / genetics*

Substances

  • KRT5 protein, human
  • Keratin-5