Clinical manifestations and treatment for keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome: a study in 25 Japanese patients

Abstract

Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder and is characterized by tumorigenesis and physical deformity. Keratocystic odontogenic tumors (KCOTs) of the jaws are a common manifestation of this syndrome. This study involved a pooled analysis of Japanese individuals with NBCCS and was performed with the aim of analyzing the clinical features of NBCCS and the patterns of occurrence and recurrence of KCOTs in Japanese individuals. This study included 25 patients. The relative frequencies of the major symptoms in these patients were compared with those reported in the literature. We also investigated 11 patients with KCOTs (40 lesions) initially treated at Tokyo Medical and Dental University. KCOTs (100%) and palmar and/or plantar pits (n = 19; 76.0%) were the most frequently observed manifestations. Eleven patients (44.0%) had a radiologically confirmed rib anomaly. Nineteen patients (76.0%) had a family history of the syndrome within first-degree relatives. Japanese patients had a relatively low frequency of basal cell carcinoma (n = 7; 28.0%) and falx calcification (n = 7; 28.0%) compared with that reported in other populations. Twelve of the total 40 KCOTs (30.0%) that were followed up for 6 months or more recurred. All recurrent cases had undergone conservative treatment, whereas no recurrences occurred in cases that had undergone radical treatment. Recurrence of KCOTs associated with NBCCS is frequently encountered, and further investigations are required to confirm the optimal treatment that will ensure a complete cure improving the patient's quality of life.