epidermolysis bullosa dystrophica, Bart syndrome type (epidermolysis bullosa with congenital localized absence of skin & deformity of nails)

Genetics

• autosomal dominant
• associated with defects in COL7A1

Clinical manifestations

• congenital localized absence of skin
• skin fragility
• deformity of nails

More general terms

• epidermolysis bullosa dystrophica (EBD)

Database

• OMIM: https://mirror.omim.org/entry/132000
• OMIM: https://mirror.omim.org/entry/120120