Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1)

J Invest Dermatol. 1999 May;112(5):815-7. doi: 10.1046/j.1523-1747.1999.00568.x.

Abstract

A 12 y old girl with the albopapuloid variant (Pasini) of dominant dystrophic epidermolysis bullosa is studied. The albopapuloid lesions developed within the first year of life, contained milia and were associated with pruritus. Mutation detection of the COL7A1 gene revealed a G-->A transition at nucleotide position 6110 in the mutant allele converting a glycine to glutamic acid (G2037E). This report adds to the expanding database on COL7A1 mutations in dystrophic epidermolysis bullosa.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Substitution*
  • Child
  • Collagen / genetics*
  • Collagen / metabolism
  • DNA Mutational Analysis
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Epidermolysis Bullosa Dystrophica / metabolism
  • Female
  • Genes, Dominant
  • Glycine / genetics*
  • Heterozygote
  • Humans
  • Pedigree
  • Point Mutation
  • Polymerase Chain Reaction
  • Skin / metabolism

Substances

  • Collagen
  • Glycine