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Two Cases of Bart`s Syndrome in Mother and Daughter

Journal of the Korean Pediatric Society 2000;43(2):306-311.
Published online February 15, 2000.
Two Cases of Bart`s Syndrome in Mother and Daughter
Si-Eun Lee1, Yong-Suk Kim1, Su-Jin Lee1, Chan-Hoo Park1, Hyang-Ok Woo1, Hee-Shang Youn1, Jeong-Hee Lee2
1Departments of Pediatrics, Gyeongsang National University College of Medicine, Chinju, Korea
2Departments of Pathology, Gyeongsang National University College of Medicine, Chinju, Korea
모녀에서 발견된 Bart 증후군 2례
이시은1, 김용숙1, 이수진1, 박찬후1, 우향옥1, 윤희상1, 이정희2
1경상대학교 의과대학 소아과학교실
2경상대학교 의과대학 병리학교실
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.
Key Words: Bart`s syndrome, Epidermolysis bullosa, Congenital localized absence of skin


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