epidermolysis bullosa simplex, autosomal recessive

Pathology

• intraepidermal epidermolysis bullosa

Genetics

• associated with defects in KRT14

Clinical manifestations

• localized blistering on the dorsal, lateral & plantar surfaces of the feet

More general terms

• epidermolysis bullosa simplex (EBS)

Database

• OMIM: https://mirror.omim.org/entry/601001
• OMIM: https://mirror.omim.org/entry/148066