Nevoid Basal Cell Carcinoma Syndrome: A Case Report and Review of Korean Cases

• Published in: Maxillofacial plastic and reconstructive surgery Vol. 36; no. 6; pp. 292 - 297
• Main Authors: Jung, Eun-Joo, Shin, Hyokeun, Baek, Jin-A, Leem, Dae-Ho, Ko, Seung-O
• Format: Journal Article
• Language: English
• Published: England Maxillofac Plast Reconstr Surg 01.11.2014; 대한악안면성형재건외과학회
• Subjects: Case Report; 치의학; Odontogenic cyst; Basal cell nevus syndrome; Nevoid basal cell carcinoma syndrome
• ISSN: 2288-8101; 2288-8586; 2288-8586
• DOI: 10.14402/jkamprs.2014.36.6.292

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.