[Congenital epidermolysis bullosa: a review]

Actas Dermosifiliogr. 2009 Dec;100(10):842-56.
[Article in Spanish]

Abstract

Epidermolysis bullosa is a group of hereditary diseases affecting 1 in 17,000 live births worldwide. It consists of blistering of the skin and mucous membranes in response to minimal trauma. The disorder seriously affects the patient's quality of life. Diagnosis is based on immunofluorescence mapping and electron microscopy. Treatment is symptomatic, although new cellular and molecular therapies are currently under investigation. This review covers aspects of the molecular biology, clinical presentation, diagnosis, and treatment of epidermolysis bullosa relevant to improving the care for affected patients.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Epidermolysis Bullosa* / diagnosis
  • Epidermolysis Bullosa* / therapy
  • Humans