Junctional epidermolysis bullosa with pyloric atresia in | Dermatology

Junctional epidermolysis bullosa with pyloric atresia involves a defect in the b4 subunit of the a6b4 integrin. The expression of this protein is limited to the basal layer of the epidermis. This integrin is a transmembrane protein that coordinates a link between the intermediate filaments (keratins) and the extracellular matrix of the basement membrane. The b4 domain mediates an interaction with both plectin and BP180; its absence prevents hemidesmosomal assembly.