Gorlin-Goltz Syndrome - Case Report and Literature Review Emphasizing on Diagnostic Methods

Gorlin-Goltz syndrome (GGS) is a hereditary cancer syndrome with dominant inheritance caused by mutations in the PTCH1 gene, responsible for encoding a transmembrane receptor that interacts with the SHH signaling protein. This Hedgehog signaling pathway is essential for cell division and growth, for controlling the development of vertebrates' organs, for differentiating fingers, and for the formation of the brain, spinal cord, eyes, and teeth. When the PTCH gene is homozygously inactivated, cancerogenesis ensues, resulting in the development of numerous basal cell carcinomas and other neoplasms. Other than major anomalies such as multiple basal cell carcinomas, odontogenic keratocysts of the jaw, multiple palmar or plantar pits, bilamellar calcifications of falx cerebri and tentorium, Bifid or fused, or markedly splayed ribs, more than 100 minor anomalies have been described so far. Radiological investigations and genetic testing plays a major role in early diagnosis of this syndrome. We have presented a 19-year-old male patient who presented with multiple odontogenic keratocyst and eventually diagnosed to be GGS. we have also summarized GGS anomalies recorded so far along with differential diagnosis.