Neonatal Medicine

The Korean Society of Neonatology (대한신생아학회)
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Clinical Course of Aplasia Cutis Congenita

선천성 피부 무형성증의 임상 경과

  • Kim, Ji-Young (Department of Pediatrics, Cheil General Hospital, College of Medicine, Kwandong University) ;
  • Lee, Yeon-Kyung (Department of Pediatrics, Cheil General Hospital, College of Medicine, Kwandong University) ;
  • Ko, Sun-Young (Department of Pediatrics, Cheil General Hospital, College of Medicine, Kwandong University) ;
  • Kim, Kyung-A (Department of Pediatrics, Cheil General Hospital, College of Medicine, Kwandong University) ;
  • Shin, Son-Moon (Department of Pediatrics, Cheil General Hospital, College of Medicine, Kwandong University)
  • 김지영 (관동대학교 의과대학 제일병원 소아청소년과) ;
  • 이연경 (관동대학교 의과대학 제일병원 소아청소년과) ;
  • 고선영 (관동대학교 의과대학 제일병원 소아청소년과) ;
  • 김경아 (관동대학교 의과대학 제일병원 소아청소년과) ;
  • 신손문 (관동대학교 의과대학 제일병원 소아청소년과)
  • Published : 2011.11.30
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Abstract

Purpose: Aplasia cutis congenita (ACC) is a rare condition characterized by a localized absence of skin, and it can be associated with other congenital anomalies. This study was done to evaluate clinical course and outcome of ACC in neonates. Methods: Based on the medical records, we retrospectively reviewed 8 neonates diagnosed with ACC at Cheil General Hospital and Women's Health Care Center, Kwandong university College of Medicine from January 2004 to December 2010. We classified ACC by Frieden's classification and analyzed the patient's demographic data, clinical course and outcome. Results: Among 8 patients with ACC, 5 patients were classified to group 1; scalp ACC without anomalies and 3 patients to group 7; ACC localized to extremities without blistering. Defect size was from 0.3 cm to 1.5 cm, limited in the superficial skin or subcutaneous tissue without associated anomalies. Defects were healed under conservative treatment with mild scar formation within four months. Conclusion: ACC could be diagnosed easily through physical examination in neonates. All cases showed good clinical outcome without surgical treatment. However because of small numbers and small sized defects of cases, further study including lesions of large size is needed.

목적: 선천성 피부 무형성증은 피부결손을 특징으로 드물게 발생하는 선천성 질환으로, 전신에서 나타날 수 있으며 선천성 기형을 동반하기도 한다. 국내에서의 연구는 증례보고에 국한되어 있어 출생 후 선천성 피부 무형성증으로 진단된 환아들의 임상 경과를 알아 보고자 하였다. 방법: 2004년 1월부터 2010년 12월까지 관동대학교 의과대학 제일병원에서 출생한 신생아 중 선천성 피부 무형성증이 확인된 8명을 대상으로 하여 의무 기록 정보를 후향적으로 분석하여 환아의 임상적 특징, 치료 및 예후에 관한 임상 경과를 분석하였다. 결과: 8명의 환아 중 3명이 남아였고 5명이 여아였으며, 이중 질식분만이 4명, 제왕절개분만이 4명이었다. 재태기간은 36주 3일에서 39주 4일이었으며, 이 중 37주 미만의 미숙아는 2명이었고, 출생 체중의 중간값은 2,685 g (2,180-3,625 g) 이었다. 신생아 황달을 보인 환아는 4명, 태변을 흡인한 환아는 1명이었다. 산모는 임신성 당뇨를 보인 경우가 4명이었으며, 임신성 고혈압은 2명, 양수과소증을 보인 경우는 3명이었다. Frieden의 분류에 의해 두부에 발생한 5명은 group 1에, 사지 및 체간에 발생한 3명은 group 7에 속했으며, 크기는 0.3 cm 에서 1.5 cm 로 모두 2 cm 이하였고, 표피나 진피에 국한된 결손이었다. 동반된 기형은 없었으며, 가족력은 1명에서 관찰되었다. 모두 보존적 치료만을 시행하였으며, 심각한 반흔을 남기지 않고 2개월에서 4개월 이내에 상처가 치유되었다. 결론: 선천성 피부 무형성증은 드물게 발생하는 질환으로 출생 후 세밀한 관찰을 통해 쉽게 진단할 수 있으며, 결손 부위가 크지 않을 경우 병변의 위치에 관계없이 보존적 치료로 치유될 수 있었다. 하지만, 동반 질환 및 다른 질환과의 감별을 위해서는 임상경과와 합병증 발생에 대한 장기적인 추적관찰이 필요하며, 결손 부위가 크거나 동반 질환의 경중에 따라 예후가 달라질 수 있기에 이에 대한 보다 많은 연구가 필요하겠다.

Keywords

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