Clinical phenotype of Bart's syndrome seen in a family with dominant dystrophic epidermolysis bullosa.

Abstract

Bart's syndrome is one type of dominant dystrophic epidermolysis bullosa (EB). It is known that, in some familial cases of dominant dystrophic EB, the symptoms differ depending on the individual. We observed the way Bart's syndrome affected four generations in the same family. The proband was a newborn boy who showed congenital localized absence of skin (CLAS) and bullae on the anterior aspects of both legs. Histologically, the bullae were located subepidermally. The CLAS and bullae disappeared within 4 months after birth, leaving scars. His father retained scarring and scaling from the knees down along the anterior aspect of the legs, and the nails of the toes were either lacking or deformed. His paternal grandmother and great-grandmother also presented deformed nails of the toes, although they had not had CLAS or bullae on the legs at birth. The individuals in this family thus showed some heterogeneity depending on the sex: blistering and CLAS were seen on the legs soon after birth in the male family members, but the female members did not share this pattern of symptoms, suggesting that the expression of symptoms may differ depending on the sex of the affected individual.