The long and winding road that leads to a cure for epidermolysis bullosa

Regen Med. 2013 Jul;8(4):467-81. doi: 10.2217/rme.13.33.

Abstract

Inherited epidermolysis bullosa (EB) is a family of rare genetic skin disorders characterized by structural and mechanical fragility of skin and mucosal membranes. The main feature of EB is the presence of recurrent skin blistering or erosions, which have a profound impact in the quality of life of EB patients and, in the most severe forms, cause early lethality. During the past two decades, it became possible to identify mutations in genes responsible for different types of EB and characterize the abnormalities of the related proteins. Nowadays, there is no cure for EB; all the treatments are palliative and focused on the relief of the devastating EB clinical picture. Recent advancements in molecular biology, stem cell biology and regenerative medicine have fostered new therapeutic approaches for EB. This review is focused on recent developments in gene therapy, protein replacement and cell-based therapy for EB, all aimed at finding a cure for this devastating disease.

Publication types

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

MeSH terms

  • Cell- and Tissue-Based Therapy*
  • Epidermolysis Bullosa / therapy*
  • Humans
  • Regenerative Medicine*