The clinical spectrum of dystrophic epidermolysis bullosa

The British Journal of Dermatology
H M Horn, M J Tidman

Abstract

Dystrophic epidermolysis bullosa (DEB) is a genodermatosis resulting from mutations in COL7A1, the gene encoding type VII collagen. The site and specific nature of the underlying mutation determine the clinical phenotype, which ranges widely from a severe mutilating condition to a relatively mild disorder. To document the clinical spectrum of DEB within a defined complete population. Since 1992, when compilation of the U.K. epidermolysis bullosa register began, an exhaustive search for DEB sufferers within the Scottish population has been undertaken and their clinical features comprehensively recorded. One hundred and twenty-eight DEB sufferers have been identified within the Scottish population. In descending order, the frequencies of the different forms of DEB were dominant DEB (DDEB) in 88 individuals (68%), DEB of uncertain inheritance in 24 (19%) and recessive DEB (RDEB) in 16 patients (13%). Within this latter group, nine (7%) had the mutilating Hallopeau-Siemens subtype (RDEB-HS), five (4%) had localized (RDEB-loc) and two (2%) had a predominantly flexural (inverse) form of RDEB. During the study, two patients with RDEB died from squamous cell carcinomas (SCCs), one originating in the skin and the second arising in the o...Continue Reading

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