A Japanese case of de novo dominant dystrophic epidermolysis bullosa

Clin Exp Dermatol. 2002 Jan;27(1):56-8. doi: 10.1046/j.0307-6938.2001.00941.x.

Abstract

We report a Japanese case of dominant dystrophic epidermolysis bullosa with a de novo mutation in the triple-helical domain of the type VII collagen. Mutation detection revealed a glycine --> aspartic acid substitution at amino acid position 2012 in exon 73 (G2012D). This previously unreported mutation underlies a clinical phenotype of moderately severe, localized skin blistering.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Collagen Type VII / genetics*
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Female
  • Genes, Dominant
  • Humans
  • Pedigree
  • Point Mutation*

Substances

  • Collagen Type VII