Nevoid Basal Cell Carcinoma Syndrome: A Case Report and Review of Korean Cases
정은주, 신효근, 백진아, 임대호, 고승오,
소속 상세정보
정은주 ( Jung Eun-Joo ) - Jeonbuk National University School of Dentistry Department of Oral and Maxillofacial Surgery
신효근 ( Shin Hyo-Keun ) - Jeonbuk National University School of Dentistry Department of Oral and Maxillofacial Surgery
백진아 ( Baek Jin-A ) - Jeonbuk National University School of Dentistry Department of Oral and Maxillofacial Surgery
임대호 ( Leem Dae-Ho ) - Jeonbuk National University School of Dentistry Department of Oral and Maxillofacial Surgery
고승오 ( Ko Seung-O ) - Jeonbuk National University School of Dentistry Department of Oral and Maxillofacial Surgery
KMID : 1036320140360060292
Abstract
Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal genetic disease caused by a PTCH mutation. The disease is characterized by multiple basal cell carcinomas of the skin, multiple keratocystic odontogenic tumors (KCOTs) in the jaw, palmar and/or plantar pits, bifid ribs, ectopic calcification of the falx cerebri, and skeletal abnormalities. Early diagnosis is difficult in many cases because there may be a number of systemic symptoms. The purpose of this study is to report the case of a 12-year-old girl who was hospitalized with multiple KCOTs that occurred in the upper and lower jaws. Through characteristic clinical symptoms and radiologic findings, she was finally diagnosed as having NBCCS. This study also aims to organize the symptoms often observed in Korea using previously published case reports to provide useful information for the early diagnosis of NBCCS.
키워드
Basal cell nevus syndrome; Nevoid basal cell carcinoma syndrome; Nevoid basal cell carcinoma syndrome; Odontogenic cyst
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