A. Bijbij, L. Belkouchi, Zhim Meriem, S. El Haddad, N. Allali, L. Chat
Journal: Medpeer Publisher
ISSN: 3066-2737
Volume: 2
Issue: 9
Date of Publication: 2025/09/03
Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant disorder caused by mutations in the PTCH1 gene, located on chromosome 9q22.3. The syndrome is characterized by a triad of multiple basal cell carcinomas (BCCs), odontogenic keratocysts (OKCs), and skeletal anomalies. The incidence of GGS is estimated at 1 in 50,000 to 150,000 individuals, with equal prevalence in males and females [1].
Radiological imaging, including computed tomography (CT) and magnetic resonance imaging (MRI), plays a pivotal role in diagnosing GGS by identifying characteristic features such as calcifications of the falx cerebri, bifid ribs, and OKCs. Early diagnosis is critical to mitigate complications such as malignant transformation of BCCs and maxillofacial deformities secondary to OKCs. The diagnostic criteria for GGS have been refined through international consensus, as outlined by Bree et al. [1], ensuring accurate identification and management of this complex syndrome.
Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome, odontogenic keratocyst, basal cell carcinoma, skeletal anomalies, falx cerebri calcification, tentorium cerebelli calcification.
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