Novel KRT14 mutation in a Taiwanese patient with epidermolysis bullosa simplex (Köbner type)

J Formos Med Assoc. 2002 Apr;101(4):287-90.

Abstract

Epidermolysis bullosa simplex (EBS) is a group of hereditary bullous diseases characterized by intraepidermal blistering due to mechanical stress-induced degeneration of basal keratinocytes. Three major subtypes have been identified with autosomal dominant inheritance: the Weber-Cockayne type, the Köbner type (EBS-K), and the Dowling-Meara type. All three EBS subtypes are caused by mutations in either keratin 5 or keratin 14, the major keratins expressed in the basal layer of the epidermis. We describe a 25-year-old male with easy blistering after trauma over the whole body from the age of 4 to 5 years. According to the clinicopathologic findings, EBS-K was diagnosed. Mutational analysis revealed a novel keratin 14 mutation (1237G-->A) that produces a conservative amino acid change (alanine to threonine) at position 413 (A413T) of the 2B helix.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Epidermolysis Bullosa Simplex / genetics*
  • Humans
  • Keratin-14
  • Keratins / chemistry
  • Keratins / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation*

Substances

  • KRT14 protein, human
  • Keratin-14
  • Keratins