All issues > Volume 43(2); 2000

Case Report

J Korean Pediatr Soc. 2000;43(2):306-311. Published online February 15, 2000.

Two Cases of Bart`s Syndrome in Mother and Daughter

Si-Eun SE Lee¹, Yong-Suk YS Kim¹, Su-Jin SJ Lee¹, Chan-Hoo CH Park¹, Hyang-Ok HO Woo¹, Hee-Shang HS Youn¹, Jeong-Hee JH Lee²

¹Departments of Pediatrics, Gyeongsang National University College of Medicine, Chinju, Korea
²Departments of Pathology, Gyeongsang National University College of Medicine, Chinju, Korea

Abstract

We experienced two cases of congenital localized skin defect and neonatal onset of relapsing subepidermal blisters associated with minor trauma in a female newborn infant and her mother. The mother of index case showed toe nail dystrophy at delivery of her daughter, but the index case did not reveal nail dystrophy until 14 months of age. The congenital skin defects healed with hypopigment, and mild atrophic scars and relapsing blisters healed without scars in both mother and daughter. These cases were considered as hereditary Bart`s syndrome with respects to family history, clinical manifestations and histopathological findings.

Keywords :Bart`s syndrome, Epidermolysis bullosa, Congenital localized absence of skin