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

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.

journal_name

Regen Med

journal_title

Regenerative medicine

authors

Carulli S,Contin R,De Rosa L,Pellegrini G,De Luca M

doi

10.2217/rme.13.33

subject

Has Abstract

pub_date

2013-07-01 00:00:00

pages

467-81

issue

4

eissn

1746-0751

issn

1746-076X

journal_volume

8

pub_type

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