A Case of Bart's Syndrome / 대한피부과학회지

ABSTRACT

Aplasia cutis congenita is a rare congenital skin defect that presents with sharply outlined ulcerations. The most common site of this disease is the scalp, yet when other areas of the body are involved, there is higher incidence of concomitant congenital diseases or malformations. Bart's syndrome is a rare inherited condition with congenital skin defects that are associated with epidermolysis bullosa. An infant presented with congenital skin defects on the leg, and the infant had recurrent bullous skin lesions on the both hands, feet, wrists and ankles. The skin defect caused only small scar formation and no handicap regarding function and appearance, yet continuously new bullous lesion developed and healed on the both distal extremities. He was diagnosed as suffering with epidermolysis bullosa with the histological findings of epidermal cleavage and negative direct immunofluorescence findings. Herein, we report on a case of Bart's syndrome that displayed aplasia cutis congenita over the lower extremities and skin blistering.