Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance (all individuals who inherit the gene develop the disorder). In cases with a known etiology, 85% are due to pathogenic variants in the PTCH1 gene.
Patients can develop a wide range of developmental abnormalities and multiple neoplasms. Examples of manifestations include basal cell carcinomas in various regions, odontogenic keratocystic tumors, skeletal anomalies, palmar and/or plantar pits, cardiac and ovarian fibromas, and intracranial calcifications. However, there is a range of signs and symptoms that can occur in different people with Gorlin-Goltz syndrome, with some developing mild manifestations and others experiencing significant manifestations. This is an example of which genetic factor?