Epidermolysis bullosa (EB) is a group of inherited disorders characterised by fragility and blistering of skin. Depending on which layer the blisters form in, EB is classified into four different types: epidermolysis bullosa simplex, junctional epidermolysis bullosa, dystrophic epidermolysis bullosa, and Kindler syndrome.

Junctional epidermolysis bullosa (JEB) is caused by blister formation within the basement membrane and is further classified broadly into generalized JEB and localized JEB. Epidermolysis Bullosa Junctionalis with Pyloric Atresia (JEB-PA) is a rare form of generalized JEB. In addition to the widespread blistering, JEB-PA is characterised by congenital pyloric atresia, fusion of the skin between the fingers and toes, nail abnormalities, joint deformities, and alopecia. Survival of infants with this condition past the first year of life is very rare. JEB-PA is caused by mutations in ITGB4 (integrin-beta-4) or ITGA6 (integrin-alpha-6) genes.