Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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PTCH 유전자 검사로 확진된 기저세포 모반 증후군 1례

Basal cell nevus syndrome (gorlin syndrome) confirmed by PTCH mutations and deletions

  • 김희문 (한림대학교 의과대학 소아과학교실) ;
  • 이철희 (한림대학교 의과대학 소아과학교실) ;
  • 김성구 (한림대학교 의과대학 소아과학교실) ;
  • 성태정 (한림대학교 의과대학 소아과학교실)
  • Kim, Hee Moon (Department of Pediatrics, Kangnam Sacred Heart Hospital, College of Medicine, Hallym University) ;
  • Lee, Chul Hee (Department of Pediatrics, Kangnam Sacred Heart Hospital, College of Medicine, Hallym University) ;
  • Kim, Sung Koo (Department of Pediatrics, Kangnam Sacred Heart Hospital, College of Medicine, Hallym University) ;
  • Sung, Tae Jung (Department of Pediatrics, Kangnam Sacred Heart Hospital, College of Medicine, Hallym University)
  • 투고 : 2007.07.11
  • 심사 : 2007.07.27
  • 발행 : 2007.08.15
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초록

기저세포 모반 증후군은 피부의 기저세포 암종, 악골의 치성 각화낭종, 손, 발바닥의 소와, 이소성 석회화, 기저세포 모반 증후군의 가족력 등을 주요 특징으로 하는 상염색체 우성 유전 질환이다. 저자들은 갑자기 커지는 좌측 안면부 종물을 주소로 내원한 9세 남자 환아에서 외관상 특징적인 소견 관찰되고 분자유전학적 검사에서 PTCH 유전자의 결손 확인되어 기저세포 모반 증후군 확진된 1례를 경험하였기에 보고하는 바이다.

Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is a rare autosomal dominant disorder characterized by variable manifestations, including multiple basal cell carcinomas, odontogenic keratocysts of the jaw, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar pits, calcification of the falx cerebri, and biparietal frontal bossing. We report a case of a 9-year-old boy with the clinical features of basal cell nevus syndrome, in which a PTCH gene mutation was confirmed by DNA testing.

키워드

참고문헌

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