Clinical Features and PTCH1 Expression in Gorlin-Goltz Syndrome: A Case Report
Gabriela González-López1, Samuel Mendoza-Álvarez2, Claudia Patricia Mejia-Velazquez1
1Department of Oral Pathology and Medicine, Postgraduate Division, School of Dentistry, National Autonomous University of Mexico, Mexico City 04510, Mexico.
Reports (MDPI)
|July 29, 2025
Summary
Gorlin-Goltz Syndrome (GGS) is a genetic disorder linked to PTCH1 gene mutations affecting Sonic HedgeHog signaling. Diagnosis relies on clinical criteria, and this case highlights effective conservative therapy for GGS.
Area of Science:
- Genetics
- Oncology
- Developmental Biology
Background:
- Gorlin-Goltz Syndrome (GGS) is an autosomal dominant disorder.
- It results from germline mutations in genes regulating the Sonic HedgeHog (SHH) signaling pathway, primarily PTCH1.
- PTCH1 mutations disrupt SHH signaling, impacting stem cell proliferation and tumor viability.
Observation:
- A 48-year-old female patient presented with clinical and histopathological features of GGS.
- Diagnosis was based on Kimonis' criteria: two major (odontogenic keratocysts, falx cerebri calcification) and one minor (congenital anomalies) criterion.
- RT-PCR analysis revealed decreased PTCH1 gene expression.
Findings:
- The patient's GGS diagnosis was confirmed through established clinical criteria.
- Reduced PTCH1 gene expression was observed, correlating with the syndrome's genetic basis.
- Conservative therapeutic management yielded positive outcomes over an 18-month follow-up.
Implications:
- Kimonis' clinical criteria are crucial for accurate Gorlin syndrome diagnosis.
- Understanding PTCH1's role in SHH signaling is vital for GGS pathogenesis.
- Conservative treatment approaches can be effective for managing GGS.
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