Gorlin-Goltz Syndrome with Familial Manifestation: A Case Report with Emphasis on Early Diagnosis

Authors

Ravinder Singh, Professor, Oral Medicine and Radiology, Maharishi Markandeshwar College of Dental Sciences and Research, Maharishi Markandeshwar (Deemed to be University), Mullana, Ambala, IndiaFollow
Deepak Gupta, Professor and head of the Department of Oral Medicine and Radiology, Maharishi Markandeshwar College of Dental Sciences and Research, Maharishi Markandeshwar (Deemed to be University), Mullana, Ambala, IndiaFollow
Aashna Garg, Postgraduate student, Oral Medicine and Radiology, Maharishi Markandeshwar College of Dental Sciences and Research, Maharishi Markandeshwar (Deemed to be University), Mullana, Ambala, IndiaFollow
Aanchal Gupta, Reader, Oral Medicine and Radiology, Maharishi Markandeshwar College of Dental Sciences and Research, Maharishi Markandeshwar (Deemed to be University), Mullana, Ambala, IndiaFollow
Sushruh Nayak, Professor and head of the Department, Oral and Maxillofacial Pathology, Maharishi Markandeshwar College of Dental Sciences and Research, Maharishi Markandeshwar (Deemed to be University), Mullana, Ambala, IndiaFollow

Keywords

Gorlin-Goltz syndrome, Early diagnosis, odontogenic keratocyst, falx and tentorium cerebelli calcifications

Abstract

Gorlin-Goltz syndrome is a hereditary autosomal dominant disorder. It has multiple clinical manifestations caused by mutation in the patched gene (PTCH), which is responsible for the growth and development of healthy tissue and for regulating the cell cycle. Early diagnosis of the condition and an extended duration of follow-up are essential to prevent complications, such as basal cell carcinomas and facial deformities, leading to a more favorable prognosis. This case was diagnosed with the presence of three major and two minor criteria, which confirmed the condition. We hereby report a case of a young male patient diagnosed by clinical, radiological and histopathological features, with further identification of his siblings presenting with the same condition. This case highlights the need to be aware of this rare condition in young individuals to facilitate regular monitoring and reduce the risk of complications.

Recommended Citation

Singh, Ravinder; Gupta, Deepak; Garg, Aashna; Gupta, Aanchal; and Nayak, Sushruh (2025) "Gorlin-Goltz Syndrome with Familial Manifestation: A Case Report with Emphasis on Early Diagnosis," The New York State Dental Journal: Vol. 91: No. 5, Article 6.
Available at: https://commons.ada.org/nysdj/vol91/iss5/6