Recurrent Metastatic Basal Cell Carcinomas of the Face in a Patient with Gorlin–Goltz Syndrome
Gorlin–Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare, inherited autosomal dominant disorder primarily caused by mutations in the <i>PTCH1</i> gene, which regulates the Hedgehog signaling pathway. This genetic defect leads to the uncontrolled prolif...
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MDPI AG
2025-03-01
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| Series: | Current Oncology |
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| Online Access: | https://www.mdpi.com/1718-7729/32/4/193 |
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| author | Petko Petrov Dobromira Shopova Georgi Goranov Atanaska Dinkova Nina Stoyanova Nikolay Yanev |
| author_facet | Petko Petrov Dobromira Shopova Georgi Goranov Atanaska Dinkova Nina Stoyanova Nikolay Yanev |
| author_sort | Petko Petrov |
| collection | DOAJ |
| description | Gorlin–Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare, inherited autosomal dominant disorder primarily caused by mutations in the <i>PTCH1</i> gene, which regulates the Hedgehog signaling pathway. This genetic defect leads to the uncontrolled proliferation of basal cells, resulting in the formation of multiple basal cell carcinomas (BCCs) and odontogenic keratocysts (OKCs). This study aims to present a complex clinical case of a patient with Gorlin–Goltz syndrome who developed multiple recurrent metastatic basal cell carcinomas on the facial region, detailing the multidisciplinary treatment strategies employed and the challenges encountered during the management of the disease. The patient, diagnosed with a pathogenic <i>PTCH1</i> gene mutation, underwent a series of treatment interventions over several years. These included multiple surgical excisions aimed at tumor removal, diverse radiotherapy approaches for residual or inoperable lesions, and systemic targeted therapy with Hedgehog pathway inhibitors to control tumor progression. The recurrent and aggressive nature of the basal cell carcinomas resulted in extensive facial tissue loss, posing significant challenges for radical tumor excision and subsequent reconstructive procedures. Multimodal therapeutic strategies, including Mohs micrographic surgery for precise tumor clearance and targeted systemic therapy with vismodegib, were implemented. However, the aggressive progression of lesions required ongoing surgical interventions, highlighting the limitations of current treatment modalities in achieving long-term disease control. This case underscores the critical need for a comprehensive, multidisciplinary approach to managing Gorlin–Goltz syndrome. Successful management requires close collaboration between dermatologists, oncologists, maxillofacial surgeons, and plastic surgeons to balance effective tumor control with optimal functional and aesthetic outcomes. The integration of advanced surgical techniques and targeted molecular therapies shows promise in improving patient outcomes. Nonetheless, early diagnosis, rigorous follow-up, and patient education remain essential components in minimizing disease progression and enhancing the quality of life for affected individuals. |
| format | Article |
| id | doaj-art-cfd93bf9acad49d2a3058bc3dbcc0388 |
| institution | DOAJ |
| issn | 1198-0052 1718-7729 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Current Oncology |
| spelling | doaj-art-cfd93bf9acad49d2a3058bc3dbcc03882025-08-20T03:13:46ZengMDPI AGCurrent Oncology1198-00521718-77292025-03-0132419310.3390/curroncol32040193Recurrent Metastatic Basal Cell Carcinomas of the Face in a Patient with Gorlin–Goltz SyndromePetko Petrov0Dobromira Shopova1Georgi Goranov2Atanaska Dinkova3Nina Stoyanova4Nikolay Yanev5Department of Maxillofacial Surgery, Faculty of Dental Medicine, Medical University-Plovdiv, 4000 Plovdiv, BulgariaDepartment of Prosthetic Dentistry, Faculty of Dental Medicine, Medical University-Plovdiv, 4000 Plovdiv, BulgariaSection Cardiology, First Department of Internal Diseases, Medical University-Plovdiv, 4000 Plovdiv, BulgariaDepartment of Oral Surgery, Faculty of Dental Medicine, Medical University-Plovdiv, 4000 Plovdiv, BulgariaDepartment of Ophthalmology, Faculty of Medicine, Medical University-Plovdiv, 4000 Plovdiv, BulgariaDepartment of Medical and Clinical-Diagnostic Activities, Ruse University “Angel Kanchev”, 7000 Ruse, BulgariaGorlin–Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare, inherited autosomal dominant disorder primarily caused by mutations in the <i>PTCH1</i> gene, which regulates the Hedgehog signaling pathway. This genetic defect leads to the uncontrolled proliferation of basal cells, resulting in the formation of multiple basal cell carcinomas (BCCs) and odontogenic keratocysts (OKCs). This study aims to present a complex clinical case of a patient with Gorlin–Goltz syndrome who developed multiple recurrent metastatic basal cell carcinomas on the facial region, detailing the multidisciplinary treatment strategies employed and the challenges encountered during the management of the disease. The patient, diagnosed with a pathogenic <i>PTCH1</i> gene mutation, underwent a series of treatment interventions over several years. These included multiple surgical excisions aimed at tumor removal, diverse radiotherapy approaches for residual or inoperable lesions, and systemic targeted therapy with Hedgehog pathway inhibitors to control tumor progression. The recurrent and aggressive nature of the basal cell carcinomas resulted in extensive facial tissue loss, posing significant challenges for radical tumor excision and subsequent reconstructive procedures. Multimodal therapeutic strategies, including Mohs micrographic surgery for precise tumor clearance and targeted systemic therapy with vismodegib, were implemented. However, the aggressive progression of lesions required ongoing surgical interventions, highlighting the limitations of current treatment modalities in achieving long-term disease control. This case underscores the critical need for a comprehensive, multidisciplinary approach to managing Gorlin–Goltz syndrome. Successful management requires close collaboration between dermatologists, oncologists, maxillofacial surgeons, and plastic surgeons to balance effective tumor control with optimal functional and aesthetic outcomes. The integration of advanced surgical techniques and targeted molecular therapies shows promise in improving patient outcomes. Nonetheless, early diagnosis, rigorous follow-up, and patient education remain essential components in minimizing disease progression and enhancing the quality of life for affected individuals.https://www.mdpi.com/1718-7729/32/4/193Gorlin–Goltz syndrome (GGS)basal cell carcinoma syndrome (NBCCS)basal cell carcinomas (BCCs)metastatic basal cell carcinomas (BCCs) |
| spellingShingle | Petko Petrov Dobromira Shopova Georgi Goranov Atanaska Dinkova Nina Stoyanova Nikolay Yanev Recurrent Metastatic Basal Cell Carcinomas of the Face in a Patient with Gorlin–Goltz Syndrome Current Oncology Gorlin–Goltz syndrome (GGS) basal cell carcinoma syndrome (NBCCS) basal cell carcinomas (BCCs) metastatic basal cell carcinomas (BCCs) |
| title | Recurrent Metastatic Basal Cell Carcinomas of the Face in a Patient with Gorlin–Goltz Syndrome |
| title_full | Recurrent Metastatic Basal Cell Carcinomas of the Face in a Patient with Gorlin–Goltz Syndrome |
| title_fullStr | Recurrent Metastatic Basal Cell Carcinomas of the Face in a Patient with Gorlin–Goltz Syndrome |
| title_full_unstemmed | Recurrent Metastatic Basal Cell Carcinomas of the Face in a Patient with Gorlin–Goltz Syndrome |
| title_short | Recurrent Metastatic Basal Cell Carcinomas of the Face in a Patient with Gorlin–Goltz Syndrome |
| title_sort | recurrent metastatic basal cell carcinomas of the face in a patient with gorlin goltz syndrome |
| topic | Gorlin–Goltz syndrome (GGS) basal cell carcinoma syndrome (NBCCS) basal cell carcinomas (BCCs) metastatic basal cell carcinomas (BCCs) |
| url | https://www.mdpi.com/1718-7729/32/4/193 |
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