Craniofacial and oral manifestations of nevoid basal cell carcinoma syndrome : early detection and multidisciplinary management

BACKGROUND: The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) or Gorlin-Goltz Syndrome (GGS) is a generalized disorder with autosomal dominant inheritance and variable expressivity. NBCCS is due to mutations in PTCH1, the human homologue of the Drosophila segment polarity gene patched. The main symptoms are: recurrent multiple jaw keratocysts , basal cell naevi of the skin or nevoid basal cell carcinomas. Other characteristic signs are: paget-like cranial appearance, wide flat nose, craniofacial asymmetry, hypertelorism, prognatism, costo-vertebral deformities, falx-cerebri calcificated, hyphoscoliosis, palmo-plantar hyperkeratosis. OBJECTIVES: The aim of this work is to underline the importance of the dentist and oral surgeon in the contribution to the early diagnosis of NBCCS, avoiding and preventing so the orofacial and systemic complications, and to determine a proper dental, medical and surgical protocol. METHODS: 27 GGS patients, 5-32 years of age, (mean age of 18,8 years) 16 females, 11 males, had undergone to a multidisciplinary treatment. In 11 cases the NBCCS has been detected by dentists or oral and maxillofacial surgeons. RESULTS: Diagnosis of the syndrome in childhood has been of great importance, because the early treatment contributed to avoid and reduce destruction of the jawbones and prevented severe complications in other organs. Also the dentists and oral surgeons have a great responsibility to detect patients with NBCCS, finding signs through the radiographs used in dentistry. The approach must be multidisciplinary between different specialists of Dentistry and Medicine, for prevention of severe malocclusions, craniofacial and systemic tumors. Since mutations are detected in approximately 60% to 85% of individual tested by sequencing of PTCH1, clinical examination and x-rays remain important in diagnosis of NBCCS.