epidermolysis bullosa dystrophica, Pasini type (albopapuloid dominant dystrophic epidermolysis bullosa)

Genetics

• autosomal dominant
• associated with defects in COL7A1

Clinical manifestations

• severe form of dystrophic epidermolysis bullosa
• albopapuloid Pasini papule
• dorsal extremity blistering
• milia formation
• red atrophic scarring after recurrent blisters

More general terms

• epidermolysis bullosa dystrophica (EBD)

Database

• OMIM: https://mirror.omim.org/entry/131750
• OMIM: https://mirror.omim.org/entry/120120