Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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제한성 피부병증(Restrictive Dermopathy) 1례

A case of restrictive dermopathy

  • 이승익 (인제대학교 의과대학 소아과학교실) ;
  • 홍창희 (인제대학교 의과대학 소아과학교실) ;
  • 정윤하 (인제대학교 의과대학 소아과학교실) ;
  • 강미선 (인제대학교 의과대학 병리학교실) ;
  • 신종범 (인제대학교 의과대학 소아과학교실)
  • Lee, Seung Ik (Department of Pediatrics, College of Medicine, Inje University) ;
  • Hong, Chang Hee (Department of Pediatrics, College of Medicine, Inje University) ;
  • Cheong, Yun Ha (Department of Pediatrics, College of Medicine, Inje University) ;
  • Kang, Mi Seon (Department of Pathology, College of Medicine, Inje University) ;
  • Sin, Jong Beom (Department of Pediatrics, College of Medicine, Inje University)
  • 투고 : 2006.11.02
  • 심사 : 2007.02.15
  • 발행 : 2007.03.15
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초록

제한성 피부병증(Restrictive dermopathy)은 상염색체 열성으로 유전되는, 매우 드문 유전성 피부질환으로, 1986년 처음 기술되었다. 임상증상으로는 피부가 강직성, 긴장성병변을 보이며, 이로인해 운동의 제한, 관절의 구축 등이 생긴다. 매우 작고 둥근 입 모양, 양안격리, 소하악증 등을 동반한 특징적인 얼굴기형과 폐저형성증, 커다란 대천문, 쇄골의 이형성 등을 동반하기도 한다. 정확한 병인은 알려져 있지 않으며, 지금까지 50례 정도 보고되고 있으나, 국내에는 아직 보고가 없다. 저자들은 이 환아와 똑같은 외형의 사산아를 출산한 경력이 있는 산모에서, 제태연령 31주에, 출생체중 1.1 kg로 태아곤란증 때문에 제왕절개로 출생한 미숙아가 출생 직후부터 호흡곤란과 청색증을 보였고, 작은 입 모양에 소하악증과 얇고 경직된 피부와 사지 관절의 구축성 변형 등을 보였으며, 체간과 사지의 일부에 피부가 벗겨져 나간 소견을 나타내어, 피부조직검사 결과 상피조직의 비후성 미란, 얇은 진피층, 피부부속기관의 미발달소견, 탄성섬유의 현저한 감소가 관찰되는 전형적인 제한성 피부병증 1례를 경험하였기에 보고하는 바이다.

Restrictive dermopathy is a rare autosomal recessive disorder in which rigidity or tautness of the skin from the second trimester causes a fetal akinesia deformation sequence (FADS) and early death. Characteristic features include taut skin with prominent subcutaneous vessels, widely open fontanelles and cranial sutures, distinctive facies, flexion contractures, pulmonary hypoplasia, sparse eyelashes and and eyebrows, thin dysplastic clavicles. The histologic abnormalities of the skin are located in a thin dermis, consisting of compactly arranged collagen fibers, scanty elastic fiber. The dermoepidermal junction is flat, and epidermal appendages are absent, miniaturized or immature. The presence of adipose tissue may be increased. We report on the first Korean case of restrictive dermopathy with typical clinical features and histological findings.

키워드

참고문헌

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