Epidermolysis bullosa acquisita and primary biliary cirrhosis

Epidermolysis bullosa acquisita is a subepidermal bullous disease characterized by circulating and tissue-bound IgG autoantibodies to type VII collagen. Primary biliary cirrhosis is a chronic, progressive, immune-mediated, cholestatic liver disease, Antimitochondrial antibodies are detected in the sera of 95% of patients with primary biliary cirrhosis. Primary biliary cirrhosis is often associated with other autoimmune diseases. We report a patient with primary biliary cirrhosis who subsequently developed epidermolysis bullosa acquisita. Our patient's serum contained IgG autoantibodies that bound to the dermal side of 1-mol/L sodium chloride-split normal human skin, as determined by indirect immunofluorescence microscopy, and to type VII collagen, as determined by immunoblot. It also contained IgG autoantibodies against the major antigens of mitochondria, pyruvate dehydrogenase complex, as determined by immunoblot. HLA-DR genotyping identified DRB1*1502 (DR2) and DRB1*0406 (DR4) in the patient. We assume that the HLA-DR2 haplotype identified in the patient may account for the coexistence of epidermolysis bullosa acquisita and primary biliary cirrhosis.