Gorlin-Goltz Syndrome: A Case Report
Year: 2025
Type: article
Study design: Case Report
Abstract: Gorlin-Goltz syndrome (GGS) is a rare autosomal dominant inherited disorder; caused by mutations in the in the long arm of chromosome 9 (q22.3-q31) and loss or mutations in the hedgehog signaling pathway of human patched gene (PTCH1 gene), mainly in PTCH1. This pathway is involved in embryogenesis and tumorigenesis, and the loss of function of PTCH1 protein produces an aberrant increase in the hedgehog signaling pathway activity. It’s characterized by a wide-range of developmental abnormalities (multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism). This report highlights a case of GGS presenting in a young female patient with cranial, facial, dermatological, dental and skeletal involvement. The diagnosis of the syndrome was based on its clinical presentation, radiological features and histopathological findings. A literature review about this syndrome, it’s clinical manifestations, diagnostic and therapeutic approach was conducted
Source: SAS Journal of Surgery
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4409238568