Raising the roof on Epidermolysis Bullosa (EB): a focus on new therapies

Abstract

Epidermolysis bullosa (EB) is a complex group of genetic disorders producing various degrees of recurrent skin blistering and epidermal detachment from the basement membrane. Patients with this disease experience the loss of intact epidermis, disruptions of basement membrane adhesion units and altered cellular adhesion, migration and integrin expression. Wound healing in patients suffering from EB remains a major challenge to their survival because of infection risk and fluid loss. There are four main types of EB each characterised by different levels of blistering formation at the dermal-epidermal junction (DEJ) (basal layer, lamina lucida, sub-lamina densa and various respectively) and different clinical phenotypes. Advances in the understanding of the pathogenesis of EB in the last 15 years have led to the identification of several candidate genes and proteins; however, present management of these diseases is still supportive and therapy symptomatic. Different avenues of therapy options being investigated, some of which are in clinical trials, include bone marrow transplant, gene therapy, cell-based therapy and protein-based therapy. Further research focused on the development of novel therapies may lead to improved quality of life for patients suffering from EB.