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Case Report

Clinical Features and PTCH1 Expression in Gorlin–Goltz Syndrome: A Case Report †

by
Gabriela González-López
1,
Samuel Mendoza-Álvarez
2,
Claudia Patricia Mejia-Velazquez
1,
Carla Monserrat Ramírez-Martínez
1,
Alejandro Alonso-Moctezuma
2 and
Luis Fernando Jacinto-Alemán
1,*
1
Department of Oral Pathology and Medicine, Postgraduate Division, School of Dentistry, National Autonomous University of Mexico, Mexico City 04510, Mexico
2
Oral and Maxillofacial Surgery Specialty, Postgraduate Division, School of Dentistry, National Autonomous University of Mexico, Mexico City 04510, Mexico
*
Author to whom correspondence should be addressed.
†
This work was a part of Gabriela González-López’s specialist thesis.
Reports 2025, 8(1), 34; https://doi.org/10.3390/reports8010034
Submission received: 4 February 2025 / Revised: 12 March 2025 / Accepted: 15 March 2025 / Published: 18 March 2025
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Abstract

Background and Clinical Significance: Basal cell nevoid carcinoma syndrome, or Gorlin–Goltz Syndrome (GGS), is a genetic disease caused by germline mutations in genes involved in the Sonic HedgeHog (SHH) signaling pathway, mainly in the PTCH1 gene. PTCH1 is a receptor for SHH, and the activation of SHH signaling exerts a direct effect on the proliferation and maintenance of stem cells; alteration of its signaling could promote a favorable microenvironment for the maintenance of tumor viability. The main clinical manifestations of patients with GGS include multiple basal cell carcinomas, odontogenic keratocysts, calcification of the falx cerebri, palmoplantar fossae, hypertelorism, prognathism, fused or bifid ribs, and macrocephaly, which occur at different stages of life. Case Presentation: Here, the case of a 48-year-old woman is described, for whom a clinical and histopathological diagnosis of GGS was made due to the presence of two major criteria (multiple odontogenic keratocysts and calcification of the falx cerebri) and one minor criterion (congenital anomalies), according to Kimonis. Additionally, an end-point RT-PCR assay showed a decrease in PTCH1 gene expression. A conservative therapy was established, and satisfactory results were obtained in a follow-up period of 18 months. Conclusions: Kimonis' clinical criteria are important for establishing the diagnosis of Gorlin syndrome.
Keywords: Gorlin–Goltz syndrome; odontogenic keratocysts; PTCH1; RT-PCR; basal cell carcinoma Gorlin–Goltz syndrome; odontogenic keratocysts; PTCH1; RT-PCR; basal cell carcinoma

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MDPI and ACS Style

González-López, G.; Mendoza-Álvarez, S.; Mejia-Velazquez, C.P.; Ramírez-Martínez, C.M.; Alonso-Moctezuma, A.; Jacinto-Alemán, L.F. Clinical Features and PTCH1 Expression in Gorlin–Goltz Syndrome: A Case Report. Reports 2025, 8, 34. https://doi.org/10.3390/reports8010034

AMA Style

González-López G, Mendoza-Álvarez S, Mejia-Velazquez CP, Ramírez-Martínez CM, Alonso-Moctezuma A, Jacinto-Alemán LF. Clinical Features and PTCH1 Expression in Gorlin–Goltz Syndrome: A Case Report. Reports. 2025; 8(1):34. https://doi.org/10.3390/reports8010034

Chicago/Turabian Style

González-López, Gabriela, Samuel Mendoza-Álvarez, Claudia Patricia Mejia-Velazquez, Carla Monserrat Ramírez-Martínez, Alejandro Alonso-Moctezuma, and Luis Fernando Jacinto-Alemán. 2025. "Clinical Features and PTCH1 Expression in Gorlin–Goltz Syndrome: A Case Report" Reports 8, no. 1: 34. https://doi.org/10.3390/reports8010034

APA Style

González-López, G., Mendoza-Álvarez, S., Mejia-Velazquez, C. P., Ramírez-Martínez, C. M., Alonso-Moctezuma, A., & Jacinto-Alemán, L. F. (2025). Clinical Features and PTCH1 Expression in Gorlin–Goltz Syndrome: A Case Report. Reports, 8(1), 34. https://doi.org/10.3390/reports8010034

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