All issues > Volume 37(1); 1994

Case Report

J Korean Pediatr Soc. 1994;37(1):104-108. Published online January 15, 1994.

A Case of Bart's Syndrome - Epidermolysis Bullosa and Congenital Localized Absence of Skin -

Hong Shin HS Jeon¹, Young Jin YJ Hong¹, Don Hee DH Ahn¹, Hee Jun HJ Yoo², Je Geun JG Chi³

¹Department of Pediatrics, National Medical Center, Seoul, Korea
²Department of Dermatology, National Medical Center, Seoul, Korea
³Department of Pathology, Seoul National University College of Medicine, Seoul, Korea

Abstract

A female newborn had the following characteristics: a congenital localized absence of skin over the lower extremities; blistering of the skin or mucous membrane, incited by trauma, which heals without scarring; and congenital absence or deformity of the nails. In respect to the characteristic manifestationhj, clinical course and electron microscopic features, our patient seems to fit well into Bart's syndrome. The inheritance pattern appears to be autosomal dominant but, as in this report, isolated cases have been recognized. As the review of the literatures, congenital localized absence of skin has been observed in various subsets of inherited E.B. But, we believe that the term Bart's syndrome should be used to identify patients with good prognosis as the Bart's initial description. To the best of our knowedge, this is the first reported case of Bart's syndrome in the korean literature.

Keywords :Bart's syndrome, Epidermolysis bullosa, congenital localized absence of skin