Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5C, with pyloric atresia
Definition
A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.
Also known as EBS-PA, epidermolysis bullosa simplex 5C, with pyloric atresia, epidermolysis bullosa simplex with pyloric atresia — per MONDO