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.
Ismail (2001) reported two patients from the same tribe diagnosed with pyloric atresia with epidermolysis bullosa. Both babies developed sepsis post-operatively and died.
[Ismail A. Pyloric atresia with epidermolysis bullosa: two patients in one week. Qatar Med J. 2001; 10(2):64-6.]
Al-Salem et al. (2002) reported five newborns, 4 males and 1 female, with congenital pyloric atresia, born in Saudi Arabia and the UAE.
Cherif et al. (2005) described a newborn male with epidermolysis bullosa, aplasia cutis congenital, and pyloric atresia. The infant was the result of a consanguineous marriage and family history demonstrated that a previous infant died in the family because of epidermolysis bullosa.
Nawaz et al. (2000) reported two cases of newborns with the coexistence of congenital pyloric atresia and epidermolysis bullosa.
[See also: Saudi Arabia > Al-Salem et al., 2002].