Bart's syndrome: microscopic, ultrastructural, and immunofluorescent mapping features

Bart's syndrome has been clinically described as the association of congenital localized absence of skin (CLAS), epidermolysis bullosa (EB), oral mucosal lesions, and dystrophic nails. Transmission occurs through an autosomal dominant gene with complete penetrance but variable expression. It has been difficult to classify this type of EB because of lack of microscopic and ultrastructural studies on affected family members. This is the first report of microscopic, ultrastructural, and immunofluorescent mapping studies of an affected individual with the complete inherited syndrome initially described by Bart. This study is also the first to document the association of CLAS and dominant dystrophic epidermolysis bullosa by histology, electron microscopy, and immunofluorescent mapping. Our two patients and one other affected family member had diminution or absence of a specific basement membrane antigen as defined by immunofluorescence with a monoclonal antibody (KF-1) in perilesional skin.