180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype

Br J Dermatol. 1998 May;138(5):859-66. doi: 10.1046/j.1365-2133.1998.02226.x.

Abstract

Generalized atrophic benign epidermolysis bullosa (GABEB) is a rare variant of non-lethal junctional epidermolysis bullosa characterized by generalized skin blistering healing with atrophy and by atrophic alopecia with onset in childhood. Other features include mild mucosal blistering, dental abnormalities and nail dystrophy. We report four additional cases of GABEB from two families originating from the same isolated village. The patients shared an unusually mild clinical phenotype with cutaneous blisters strictly limited to trauma sites and rare occurrence of oral mucosal lesions. Scalp, eyelash and eyebrow alopecia was present in only two cases. Immunofluorescence studies showed a markedly reduced expression of the 180-kDa bullous pemphigoid antigen (BP180), and northern analysis of cultured keratinocytes indicated that the gene encoding for BP180 is affected in these GABEB patients.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Autoantigens / analysis*
  • Carrier Proteins*
  • Collagen Type XVII
  • Collagen*
  • Cytoskeletal Proteins*
  • Dystonin
  • Epidermolysis Bullosa, Junctional / genetics
  • Epidermolysis Bullosa, Junctional / immunology*
  • Epidermolysis Bullosa, Junctional / pathology
  • Female
  • Fluorescent Antibody Technique
  • Humans
  • Male
  • Middle Aged
  • Nerve Tissue Proteins*
  • Non-Fibrillar Collagens*
  • Pedigree
  • Phenotype
  • Skin / ultrastructure

Substances

  • Autoantigens
  • Carrier Proteins
  • Cytoskeletal Proteins
  • DST protein, human
  • Dystonin
  • Nerve Tissue Proteins
  • Non-Fibrillar Collagens
  • Collagen