epidermolysis bullosa Malformation syndrome with skin/mucosae involvement Genetic epidermal disorder Junctional epidermolysis bullosa - pyloric atresia Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract. OMIM:226730 Carmi syndrome ICD10:Q81.8 JEB-PA orphanet