Nevoid Basal Cell Carcinoma Syndrome - Clinical and Radiological Findings of Three Cases

Abstract

Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder, characterized by skeletal anomalies and multiple keratocystic odontogenic tumors of the jaws. The skeletal anomalies of this syndrome are mandibular prognathism, bossing of frontal and parietal bones, high-arched palate, and bifid rib. We report three cases with NBCCS, emphasizing the clinical and radiographic findings, the importance of the early diagnosis of NBCCS, and a preventive multidisciplinary approach in the management of NBCCS.

Unusually Large Erupted Complex Odontoma in Anterior Maxilla

“…The etiology is unclear; but proposed causes include hereditary anomalies (Gardner's syndrome, Hermann's syndrome, and basal cell nevus syndrome), local trauma, odontoblastic hyperactivity, infection, or persistence of portion of dental lamina between the tooth germs or inheritance through a mutant gene or interference [15] . Multiple KCOTs are the most persistent and characteristic symptom of basal cell nevus syndrome, occurring most frequently in the first and second decade of life [16] . Hitchin recommended that odontomas are inherited through a mutant gene or interference, possibly postnatal, with genetic control of tooth development.…”

Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization

“…Jaw cysts and BCC occurred at median ages of 10 and 14.2 years respectively. Additionally, clinical criteria such as bifid ribs, calcification of the falx cerebri, and palmar pits were often identified in affected individuals retrospectively, after the diagnosis of NBCCS had been established, perhaps because they were not assessed on a routine physical exam or would only have been visible on specific X-rays 24 . Many of the same clinical features are included in the prior criteria and our proposed criteria, illustrating that the approaches of criteria based on expert opinion and criteria based on statistical optimization may be complementary.…”

Carcinomas basocelulares múltiples con características clínicas poco comunes

“…9 Nuestro paciente, a pesar de presentar múltiples CBC, no tenía alguna característica fenotípica para pensar en alguno de estos síndromes. [10][11][12][13][14] Es importante realizar un diagnóstico oportuno para implementar un tratamiento temprano y así evitar com-plicaciones. Una presentación con topografía y morfología atípicas puede retrasar su diagnóstico y tratamiento.…”