Korean journal of dermatology (대한피부과학회지)

Korean Dermatological Association (대한피부과학회)
권호 표지

A Case of Aplasia Cutis Congenita in Two Siblings

자매에서 발생한 선천성 피부형성 부전증 1예

  • Lim, Jong-Ho (Department of Dermatology, College of Medicine, The Catholic University of Korea) ;
  • Park, Hoon (Department of Dermatology, College of Medicine, The Catholic University of Korea) ;
  • Kim, Jin-Wou (Department of Dermatology, College of Medicine, The Catholic University of Korea) ;
  • Yu, Dong-Su (Department of Dermatology, College of Medicine, The Catholic University of Korea)
  • 임종호 (가톨릭대학교 의과대학 피부과학교실) ;
  • 박훈 (가톨릭대학교 의과대학 피부과학교실) ;
  • 김진우 (가톨릭대학교 의과대학 피부과학교실) ;
  • 유동수 (가톨릭대학교 의과대학 피부과학교실)
  • Received : 2010.02.18
  • Accepted : 2010.05.19
  • Published : 2010.06.30
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Abstract

Aplasia cutis congenita (ACC) is a rare congenital disorder, which was first described by Cordon in 1767. It is characterized by a defect of epidermis, dermis, subcutaneous tissues and sometimes even bone, and occurs predominantly on the scalp. Non-scalp locations are involved in 15% of all cases and are often bilaterally symmetrical. Most cases of ACC appear sporadically. Intrauterine trauma, vascular accidents or genetic factors are postulated as initial steps in the pathogenesis. However, the aetiology of this condition remains unknown. Familial cases have been reported and are suggestive of either an autosomal dominant or autosomal recessive inheritance with variable expression. We herein report on a 10-day-old female infant and her 8-year-old sister with aplasia cutis congenita on their legs.

Keywords

References

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