Multidisciplinary approach to early diagnosis of Gorlin-Goltz syndrome

Aim: The aim of this study is to highlight the central role of the dentist in the early diagnosis of Gorlin-Goltz syndrome (GGS), with the aim of preventing and reducing the orofacial and systemic complications associated with this genetic condition. Materials and Methods: Twenty-one patients with GGS, aged between 5 and 14 years (mean age: 8.2 years), including 12 females and 9 males, underwent multidisciplinary treatment. In 8 cases, the syndrome was first identified by the orthodontist during routine check-ups. Gorlin-Goltz syndrome, or basal cell nevus syndrome, is an autosomal dominant hereditary disorder with variable clinical expression. The main manifestations include multiple and recurrent odontogenic keratocysts and cutaneous basal cell nevi. Other distinctive features include pagetoid skull morphology, broad and depressed nose, craniofacial asymmetry, hypertelorism, prognathism, costovertebral abnormalities, calcifications of the falx cerebri, kyphoscoliosis, and palmo-plantar hyperkeratosis. Results and Conclusions: Diagnosis in childhood proved decisive, as timely intervention made it possible to limit osteolytic processes affecting the maxillary bones and prevent systemic complications. The role of the dentist, particularly the orthodontist, is crucial in the early identification of GGS through routine clinical and radiographic examinations. Multidisciplinary collaboration between specialists in dentistry, genetics, dermatology and radiology is essential for the prevention of malocclusions and the detection of craniofacial and systemic lesions typical of the syndrome.