Multidisciplinary approach to Gorlin-Goltz syndrome from diagnosis to surgical treatment

Gorlin-Goltz syndrome (GGS) also known as basal cell nevus syndrome (BCNS) or nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant familial cancer syndrome. It is characterized by the presence of numerous basal cell carcinomas (BCCs), jawbone odontogenic keratocysts along with skeletal, craniofacial, cutaneous, ophthalmic, and neurological abnormalities. It is essential to anticipate the diagnosis by identifying the pathology through the available diagnostic tests, clinical signs, and radiological manifestations, setting up an adequate treatment plan. Recent databases have been analyzed about the etiopathogenesis of the disease, identifying the genetic alterations underlying them. Subsequently, the major and minor clinical diagnostic criteria, the possible genetic tests to be performed and the pathologies with which to perform differential diagnosis, have been defined to date. The 3D radiological investigations were reviewed based on the most recent literature, and a review has been performed, regarding the actual jawbone surgical protocols, treating simple enucleation, removal with bone curettage in association or not with topical use of cytotoxic chemicals, and “en bloc” resection followed by possible bone reconstruction, marsupialization, decompression, and cryotherapy. To promote the most efficient and accurate management of GGS, this summarizes the clinical features of the disease, pathogenesis, diagnostic criteria, differential diagnosis, and surgical protocols. To arrive at an early diagnosis of the syndrome, it would be advisable to perform radiographic and clinical examinations from the young age of the patient. The management of the patient with GGS requires a multidisciplinary approach ensuring an adequate quality of life and effective treatment of symptoms.