Korean J Dermatol.
2009 Apr;47(4):463-467.
A Case of Bart's Syndrome
- Affiliations
-
- 1Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea. dbang@yuhs.ac
- 2Department of Cutaneous Biology, Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
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.
