Recessive dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa
Definition
Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.
Also known as autosomal recessive dystrophic epidermolysis bullosa generalisata gravis, autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type, EBD inversa, epidermolysis bullosa dystrophica, AR, epidermolysis bullosa dystrophica, autosomal recessive, modifier of, RDEB generalisata gravis, RDEB-sev gen, RDEB, Hallopeau-Siemens type — per MONDO