Nevoid basal cell carcinoma syndrome: a 40-year study in the South African population.

BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is a hereditary autosomal dominant syndrome presenting with a number of signs and symptoms in different population groups.

METHODS:   The investigators implemented a 40-year retrospective analysis of the clinical and radiological features of South Africans affected by NBCCS presenting at the Departments of Oral Surgery, Pathology and Radiology of two major referral hospitals. Details of age, gender, ethnic origin, clinical, and radiological findings were recorded and compared to previous reports. A list of diagnostic criteria for diagnosis of NBCCS in this population was complied. Descriptive statistics were computed, and the P value was set at 0.05 or less.

RESULTS: The sample was composed of 15 patients. The mean age at the time of diagnosis was 22.7years (SD 20.9) with eight (53.3%) patients diagnosed before 20years of age (P=0.0001). The male: female ratio was 2:1. The most frequent major criteria were keratocystic odontogenic tumors (KCOTs) (100%), calcification of falx cerebri (40%), palmo-plantar pits (26.7%), and basal cell carcinomas (BCCs) (20%). The most frequent minor criteria were bifid ribs (20%), skull anomalies (20%), and hypertelorism (20%).

CONCLUSIONS: The results of this study indicate that there was a low frequency of falx cerebri calcifications, BCCs, skull, and rib anomalies in this sample compared to other population groups. These differences could be attributed to genetic, racial, and environmental factors. Future studies are needed to compile diagnostic criteria specific to different population groups.