Pyloric atresia with junctional epidermolysis bullosa (PA-JEB) syndrome: absence of detectable beta 4 integrin and reduced expression of epidermal linear IgA dermatosis antigen

A newborn girl with pyloric atresia with junctional epidermolysis bullosa ( PA-JEB) developed vomiting and blisters after birth. Radiography revealed p yloric atresia, and a resection of atretic segment and gastroduodenostomy w ere carried out at 4 days after birth. Physical examination revealed multip le bullae on the trunk and extremities (Fig, 1). Light microscopy of a skin biopsy specimen showed subepidermal bullae with few inflammatory cells. El ectron microscopy showed separation in the lamina lucida and rudimentary he midesmosomes (Fig. 2). A direct immunofluorescence (IF) mapping study was n egative for immunoglobulin G (IgG), IgA, IgM, C3, and fibrin. To determine the cleavage level, an IF mapping study was performed on 6 mu m cryostat se ctions of a frozen skin biopsy specimen, using bullous pemphigoid (BP) anti body, monoclonal antibody against type IV collagen (Dako, Copenhagen, Denma rk), monoclonal antibody (LH 7.2) against type VII collagen (Serotec, Oxfor d, UK), and epidermolysis bullosa acquisita (EBA) serum. The staining for B P was identified on the epidermal side. The staining for monoclonal antibod y against type IV collagen, type VII collagen, and EBA was identified on th e dermal side. This pattern was compatible with the diagnosis of JEB. We al so performed an IF mapping study using GB3 monoclonal antibody (Sera Labora tory, Cambridge, UK), which recognizes laminin 5 monoclonal antibody agains t beta 4 integrin (Chemicon, Los Angeles, CA), and linear IgA dermatosis (L AD) antibody, which binds to the epidermal side of salt-split skin substrat e (Fig 3). The patient's skin has normal laminin 5 expression, but an absen ce of detectable beta 4 integrin and reduced epidermal LAD antigen expressi on. Despite nutritional support with parenteral nutrition and special formu la feeding, chronic diarrhea and bloody mucoid stools persisted and malnutr ition was not improved.