기저세포모반증후군 : 증례 보고
Nevoid Basal Cell Carcinoma Syndrome : A Case Report
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초록
기저세포모반증후군은 상염색체 우성의 유전 질환이며 주요소견으로는 다발성 기저세포암, 악골의 다발성 각화낭종, 늑골이상, 손과 발바닥의 소와, 대뇌겸의 석회화 등이 있다. 기저세포모반증후군에서 호발 하는 각화낭성 치성종양은 치성기원의골내종양으로 착각화된 중층 편평상피에 의해 특징적으로 이장되어 있고 공격적이고 침습적인 성향을 갖는 것으로 정의된다. 본 증례는 감별진단이 필요한 상악 견치부위의 단방성의 낭종을 주소로 내원한 환아가 조직검사를 통해 각화낭성 치성종양으로 밝혀진 후 임상적, 방사선학적 검사를 통해 기저세포모반 증후군으로 진단된 경우이다. 종양은 적출술로 치료되었고 증후군과 연관된 추가적인 질환들의 조기진단을 위해 정기적인 검진이 필요할 것이다.
Abstract
Nevoid basal cell carcinoma syndrome(NBCCS) is a autosomal dominant disorder, and its major manifestationsare multiple basal cell carcinoma, keratocystic odontogenic tumor, rib anomalies, palmer and plantar pits,calcification of the falx cerebri. Keratocystic odontogenic tumor(KCOT) is defined as intraosseous tumor ofodontogenic origin with a characteristic lining of parakeratinized stratified squamous epithelium and potentialaggressive behavior. We report a case of a 3-year-old patient with nevoid basal cell carcinoma syndrome whoinitially presented with unilocular keratocystic odontogenic tumor in maxillary canine region. Keratocysticodontogenic tumor was treated by enucleation, and periodic follow-up check will be required for early diagnosisof additional diseases related with this syndrome.
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