Recessive dystrophic epidermolysis bullosa, generalised severe (Q96101)

Severe generalised recessive dystrophic epidermolysis bullosa is the most severe subtype of dystrophic epidermolysis bullosa. It was formerly known as the Hallopeau-Siemens type. It is characterised by generalised cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. Affected individuals are at high risk of aggressive squamous cell carcinomas in areas of chronic ulceration.