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

More general terms

• epidermolysis bullosa dystrophica (EBD)

Database

• OMIM: https://mirror.omim.org/entry/604129