We report a 19-month-old boy with junctional epidermolysis bullosa carrying compound-heterozygous ITGB4 variants who fulfils the diagnostic criteria for JEB with pyloric atresia (JEB-PA); the pyloric atresia was surgically corrected in the neonatal period. Here, ITGB4 is linked to Junctional epidermolysis bullosa, Herlitz type.