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epidermolysis bullosa pruriginosa (EBP)
Genetics:
- autosomal dominant, autosomal recessive
- associated with defects in COL7A1
Clinical manifestations:
- skin fragility
- blistering
- scar formation
- intense pruritus
- excoriated prurigo nodules
- onset is generally in early childhood, but may be delayed until the 2nd or 3rd decade of life
General
epidermolysis bullosa dystrophica (EBD)
Database Correlations
OMIM 604129
References
UniProt :accession Q02388