Need for preventive diagnostics in patients with family history of Gorlin-Goltz syndrome (GGS)

Abstract

BackgroundGorlin-Goltz syndrome is a disease develops as a result of genes PTCH1, PTCH2 or SUFU mutations which increases the risk of neoplasms. Craniofacial anomalies constitute the majority of the typical features of the disease. CaseThe authors describe the case of a 68-year-old patient referred for the extraction of tooth 48. Clinical examinations and radiological tests revealed changes suggestive of GGS. History taking revealed that the patient's child had been treated for the same syndrome for 20 years. PurposeThe goal of the study is to prove the importance of genetic testing which the family of the patient affected by GGS needs to undergo as soon as possible. ResultsGenetic tests performed in the patient exhibited the pathogenic variant in 1 allele of the PTCH1 gene, which confirmed the diagnosis of GGS. ConclusionsGenetic testing of the patient's family enables to avoid radical surgical intervention.