Épidermolyses bulleuses héréditaires

Abstract

Epidermolysis bullosa are rare autosomal dominant or recessive genodermatoses, resulting from mutations on dermo-epidermal junction protein genes. According to the level of the cleavage in the basal membrane zone, different types of epidermolysis bullosa, i.e simplex, junctional and dystrophic are defined, each of these forms consisting in different subtypes of variable seriousness. The main clinical sign is an extreme skin fragility, leading to disseminated bullae and post-bullae erosions. Mucosal and oesophageal involvement may be severe with marked nutritional consequences and growth retardation. Some subtypes tend to improve with age. In contrast, in the most severe subtypes, functional prognosis is poor and life expectancy may be more or less rapidly altered by infectious, nutritional and carcinomatous complications. Medical, psychological and social management of these patients must be multidisciplinary. Antenatal diagnosis is possible, especially for the most severe forms of the disease.