Junctional epidermolysis bullosa with pyloric atresia
Junctional epidermolysis bullosa with pyloric atresia
Definition
Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.
Also known as Carmi syndrome, epidermolysis bullosa junctionalis with pyloric atresia, epidermolysis bullosa, junctional, with pyloric stenosis, JEB-PA, junctional epidermolysis bullosa with pyloric atresia — per MONDO