/recessive dystrophic epidermolysis bullosa

recessive dystrophic epidermolysis bullosa

Rare Disease

MONDO:0009179

Also Known As

EBD inversaRDEB generalisata gravisRDEB, Hallopeau-Siemens typeRDEB-sev genautosomal recessive dystrophic epidermolysis bullosa generalisata gravisautosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens typeepidermolysis bullosa dystrophica, ARepidermolysis bullosa dystrophica, autosomal recessive, modifier ofsevere generalised RDEBsevere generalised recessive dystrophic epidermolysis bullosasevere generalized RDEBsevere generalized recessive dystrophic epidermolysis bullosaRDEBRDEB, severe generalisedRDEB, severe generalizedautosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)dystrophic epidermolysis bullosa, autosomal recessiveepidermolysis bullosa dystrophica inversa, autosomal recessiveepidermolysis bullosa dystrophica, Hallopeau-Siemens typeepidermolysis bullosa dystrophica, autosomal recessiveepidermolysis bullosa dystrophica, autosomal recessive, Localisata variantepidermolysis bullosa dystrophica, generalised severe, autosomal recessiveepidermolysis bullosa dystrophica, generalized severe, autosomal recessiverecessive dystrophic epidermolysis bullosa, severe generalisedrecessive dystrophic epidermolysis bullosa, severe generalized

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.