Epidermolysis Bullosa Pruriginosa [Supplementary Concept]

A rare distinct clinical subtype of dystrophic EB in which skin fragility, blistering, and scar formation are associated with intense PRURITIS, nodular prurigo-like lichenified lesions, nail dystrophy, and variable presence of albopapuloid lesions. Onset may be in early childhood through the second or third decade of life. Autosomal dominant, autosomal recessive, and sporadic inheritance patterns have all been described in this disorder. Mutations in the COL7A1 gene have been identified. OMIM: 604129

Date introduced: November 5, 2012

MeSH Unique ID: C563192

Heading Mapped to:

• Epidermolysis Bullosa Dystrophica

Entry Terms:

• Dystrophic Epidermolysis Bullosa Pruriginosa

Previous Indexing:

• EPIDERMOLYSIS BULLOSA (2012-2015)