Svensk definition
En typ av epidermolysis bullosa som uppvisar atrofiering av hudområden med blåsor, svår ärrbildning och förändring hos naglarna. Den uppträder oftast redan vid födseln eller i tidig barndom och finns i både autosomalt dominant och recessiv form.
Engelsk definition
Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Bullosa Dystrophica, Epidermolysis — Bullosa Dystrophicas, Epidermolysis — Dystrophica, Epidermolysis Bullosa — Dystrophicas, Epidermolysis Bullosa — Epidermolysis Bullosa Dystrophicas — Epidermolysis Bullosa, Dystrophic — Dystrophic Epidermolysis Bullosa — Bullosa, Dystrophic Epidermolysis — Bullosas, Dystrophic Epidermolysis — Dystrophic Epidermolysis Bullosas — Epidermolysis Bullosas, Dystrophic — Hallopeau-Siemens Disease — Hallopeau Siemens Disease — Epidermolysis Bullosa Dystrophica, Autosomal Recessive — Dystrophic Epidermolysis Bullosa, Autosomal Recessive — Epidermolysis Bullosa Dystrophica, Recessive — Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type — Epidermolysis Bullosa Dystrophica, Hallopeau Siemens Type — Cockayne-Touraine Disease — Cockayne Touraine Disease — Cockayne-Touraine Type Epidermolysis Bullosa — Cockayne Touraine Type Epidermolysis Bullosa — Epidermolysis Bullosa Dystrophica, Dominant — Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type — Epidermolysis Bullosa Dystrophica, Cockayne Touraine Type