/generalized dominant dystrophic epidermolysis bullosa

generalized dominant dystrophic epidermolysis bullosa

Rare Disease

MONDO:0007549

Also Known As

DDEB, Pasini and Cockayne-Touraine typesDDEB, generalisedDDEB, generalizedDDEB-genautosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine typesepidermolysis bullosa dystrophica, ADAlbopapuloid dominant dystrophic epidermolysis bullosaDDEBautosomal dominant dystrophic epidermolysis bullosadominant dystrophic epidermolysis bullosadominant dystrophic epidermolysis bullosa, generaliseddominant dystrophic epidermolysis bullosa, generalizeddystrophic epidermolysis bullosa, autosomal dominantepidermolysis bullosa dystrophica with subcorneal cleavageepidermolysis bullosa dystrophica, Cockayne-Touraine typeepidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)epidermolysis bullosa dystrophica, Pasini typeepidermolysis bullosa dystrophica, Pasini type (formerly)epidermolysis bullosa dystrophica, autosomal dominant

Definition

Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.