Epidermolysis bullosa simplex with mottled pigmentation: a family report and review

Pediatr Dermatol. 2013 Nov-Dec;30(6):e125-31. doi: 10.1111/j.1525-1470.2012.01748.x. Epub 2012 May 29.

Abstract

Epidermolysis bullosa simplex with mottled hyperpigmentation (EBS-MP) is an uncommon subtype of EBS. Its clinical features depend on the age of diagnosis, and clinical variations have been described even within family members. We present six cases from two unrelated Spanish families each with several affected members with EBS-MP and review the clinical and genetic findings in all reported patients. We highlight the changing clinical features of the disease throughout life.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Child, Preschool
  • Epidermolysis Bullosa Simplex / genetics*
  • Epidermolysis Bullosa Simplex / pathology*
  • Family Health
  • Female
  • Humans
  • Hyperpigmentation / genetics*
  • Hyperpigmentation / pathology*
  • Infant
  • Keratin-5 / genetics*
  • Male
  • Pedigree
  • Skin / pathology

Substances

  • KRT5 protein, human
  • Keratin-5