Nevoid basal cell carcinoma syndrome: a review of the literature and a report of a case

Abstract

The purpose of this paper is to report the development of multiple odontogenic keratocysts (OKCs) in a 15-year-old female with nevoid basal cell carcinoma syndrome (NBCCS) and review the literature pertinent to NBCCS. Although more than 100 abnormalities have been reported in NBCCS, the development of OKCs is one of its principle features. In view of this, the patient was subjected to further medical, dermatological and radiographic investigation. Multiple basal cell naevi and skeletal anomalies associated with NBCCS were found. Because of the autosomal dominant inheritance of this syndrome, the patient's family was then investigated. The patient's father was found to have multiple OKCs. The report highlights the need for vigilance in considering the diagnosis of NBCCS in all cases of OKCs, particularly those affecting young patients.

Keratocystic odontogenic tumour (KCOT)—a cyst to a tumour

“…All the other presenting features remained less than 74% except palmar-plantar pits (87%) ( Table 2). Genetic mapping has shown a gene level disturbance of chromosome 9 (9q22.3) and transmission as an autosomal dominant trait with high penetrance [36,37].…”

Nevoid basal cell carcinoma syndrome

“…Other remarkable features were syndactyly and oligodactyly of the left hand and oligodactyly of the right foot of individual 3A. Syndactyly and polydactyly have been described as NBCCS features by many authors 1,6,13 . Nevertheless, as far as we know, this is the first described case of oligodactyly related to the syndrome.…”

Nevoid-basal cell carcinoma syndrome: a case report and overview on diagnosis and management

“…The NBCCS prevalence has been variously estimated from 1 in 57000 [6] to 1 in 164000 [9], but there is now general agreement that the prevalence is about 1 per 60,000 live births [10]. The syndrome occurs with equal frequency in both sexes and arises in all ethnic groups, but most reports have been in whites [6,11].…”