Epidermolysis Bullosa: Scientific Advances and Therapeutic Challenges

Abstract Epidermolysis bullosa (EB) is a heterogeneous group of inherited skin fragility and blistering disorders. Over the last 25 years research in EB has progressed from descriptive morphological studies through quantitative ultrastructural and biochemical analysis to molecular genetic approaches, including linkage analysis, gene cloning and sequencing, and mutation screening. Currently, 10 distinct causative genes are known to underlie different forms of EB, and this knowledge has been translated to improving the clinical management of patients with these disorders. For example, first trimester DNA‐based prenatal diagnosis is now available in a number of centres in different countries, including Japan, the USA and the UK, and preimplantation genetic diagnosis is also possible. The development of novel forms of treatment for enhancing wound healing and reducing blistering are the subject of an international research effort. Programmes aimed at developing gene therapy for the major forms of EB have already reached the preclinical testing stages. Despite these impressive scientific advances, EB continues to be a devastating disease, in which the high incidence of aggressive squamous cell carcinoma has a major influence on both morbidity and life expectancy, especially in patients with the severe mutilating form of dystrophic EB.