Clinical Features and PTCH1 Expression in Gorlin–Goltz Syndrome: A Case Report
<b>Background and Clinical Significance:</b> 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...
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2025-03-01
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| author | Gabriela González-López Samuel Mendoza-Álvarez Claudia Patricia Mejia-Velazquez Carla Monserrat Ramírez-Martínez Alejandro Alonso-Moctezuma Luis Fernando Jacinto-Alemán |
| author_facet | Gabriela González-López Samuel Mendoza-Álvarez Claudia Patricia Mejia-Velazquez Carla Monserrat Ramírez-Martínez Alejandro Alonso-Moctezuma Luis Fernando Jacinto-Alemán |
| author_sort | Gabriela González-López |
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| description | <b>Background and Clinical Significance:</b> 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. <b>Case Presentation</b>: 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. <b>Conclusions</b>: Kimonis' clinical criteria are important for establishing the diagnosis of Gorlin syndrome. |
| format | Article |
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| institution | DOAJ |
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| language | English |
| publishDate | 2025-03-01 |
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| spelling | doaj-art-ef9cfe9e6f014211aecc3de87b75bb5f2025-08-20T02:43:06ZengMDPI AGReports2571-841X2025-03-01813410.3390/reports8010034Clinical Features and PTCH1 Expression in Gorlin–Goltz Syndrome: A Case ReportGabriela González-López0Samuel Mendoza-Álvarez1Claudia Patricia Mejia-Velazquez2Carla Monserrat Ramírez-Martínez3Alejandro Alonso-Moctezuma4Luis Fernando Jacinto-Alemán5Department of Oral Pathology and Medicine, Postgraduate Division, School of Dentistry, National Autonomous University of Mexico, Mexico City 04510, MexicoOral and Maxillofacial Surgery Specialty, Postgraduate Division, School of Dentistry, National Autonomous University of Mexico, Mexico City 04510, MexicoDepartment of Oral Pathology and Medicine, Postgraduate Division, School of Dentistry, National Autonomous University of Mexico, Mexico City 04510, MexicoDepartment of Oral Pathology and Medicine, Postgraduate Division, School of Dentistry, National Autonomous University of Mexico, Mexico City 04510, MexicoOral and Maxillofacial Surgery Specialty, Postgraduate Division, School of Dentistry, National Autonomous University of Mexico, Mexico City 04510, MexicoDepartment of Oral Pathology and Medicine, Postgraduate Division, School of Dentistry, National Autonomous University of Mexico, Mexico City 04510, Mexico<b>Background and Clinical Significance:</b> 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. <b>Case Presentation</b>: 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. <b>Conclusions</b>: Kimonis' clinical criteria are important for establishing the diagnosis of Gorlin syndrome.https://www.mdpi.com/2571-841X/8/1/34Gorlin–Goltz syndromeodontogenic keratocystsPTCH1RT-PCRbasal cell carcinoma |
| spellingShingle | Gabriela González-López Samuel Mendoza-Álvarez Claudia Patricia Mejia-Velazquez Carla Monserrat Ramírez-Martínez Alejandro Alonso-Moctezuma Luis Fernando Jacinto-Alemán Clinical Features and PTCH1 Expression in Gorlin–Goltz Syndrome: A Case Report Reports Gorlin–Goltz syndrome odontogenic keratocysts PTCH1 RT-PCR basal cell carcinoma |
| title | Clinical Features and PTCH1 Expression in Gorlin–Goltz Syndrome: A Case Report |
| title_full | Clinical Features and PTCH1 Expression in Gorlin–Goltz Syndrome: A Case Report |
| title_fullStr | Clinical Features and PTCH1 Expression in Gorlin–Goltz Syndrome: A Case Report |
| title_full_unstemmed | Clinical Features and PTCH1 Expression in Gorlin–Goltz Syndrome: A Case Report |
| title_short | Clinical Features and PTCH1 Expression in Gorlin–Goltz Syndrome: A Case Report |
| title_sort | clinical features and ptch1 expression in gorlin goltz syndrome a case report |
| topic | Gorlin–Goltz syndrome odontogenic keratocysts PTCH1 RT-PCR basal cell carcinoma |
| url | https://www.mdpi.com/2571-841X/8/1/34 |
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