[Hereditary blistering disorders]

Hautarzt. 2004 Oct;55(10):920, 922-30. doi: 10.1007/s00105-004-0798-0.
[Article in German]

Abstract

Epidermolysis bullosa (EB) is a group of genetic skin disorders whose common feature is the formation of blisters following minor trauma. They present with a wide clinical spectrum of manifestations because of a variety of molecular defects. In patients with mild phenotypes, only skin is affected. The most severe EB forms are multiorgan disorders with a poor prognosis. EB arises from abnormalities in proteins of the dermal-epidermal junction. These specialized protein components aggregate to form anchoring complexes, which attach the epidermis to the dermis. Three major EB-forms can be distinguished on the basis of ultrastructural blistering level: EB simplex--epidermolytic, junctional EB--in the lamina lucida and dystrophic EB--dermolytic. To establish a provisional diagnosis for an EB patient, clinical data, family history and morphologic examination of the skin, e.g. by antigen-mapping, are needed. Complete knowledge of the genetic defect provides the basis to a rational genetic counseling and prenatal testing. Treatment of EB is based on wound care; multidisciplinary management of cases with severe course is required.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Epidermolysis Bullosa / diagnosis
  • Epidermolysis Bullosa / genetics
  • Epidermolysis Bullosa / therapy
  • Genetic Counseling
  • Genetic Testing
  • Humans
  • Patient Care Team
  • Prenatal Diagnosis
  • Skin Diseases, Genetic / diagnosis
  • Skin Diseases, Genetic / genetics*
  • Skin Diseases, Genetic / therapy
  • Skin Diseases, Vesiculobullous / diagnosis
  • Skin Diseases, Vesiculobullous / genetics*
  • Skin Diseases, Vesiculobullous / therapy
  • Syndrome