A Vigilant Diagnostic Approach to Gorlin Goltz Syndrome: Case Report

Gursimrat Kaur, Priyanko Chakraborty, Sandeep Ghosh, Monali Sah, Anmol Kaur Ghuman, Amandeep Singh Gill, Surbhi Malik, Ananya Rusia, Kanwarjot Singh Kohli, Saptasikha Das, Nishant Shahi, Subhasish Mukherjee
Author(s)
1Resident, Department of Otolaryngology, Head and Neck Surgery, MGM Medical College, Kishanganj, Bihar, India. 2Assistant Professor, Department of Otolaryngology, Head and Neck Surgery, MGM Medical College, Kishanganj, Bihar, India. 3Assistant Professor, Department of Surgical Oncology, NEIGRIHMS, Shillong, Meghalaya, India. 4Assistant Professor, Department of Pediatrics, MGM Medical College, Kishanganj, Bihar, India. 5Professor, Department of Otolaryngology- Head and Neck Surgery, MGM Medical College, Kishanganj, Bihar, India

Abstract

Background: Gorlin-Goltz Syndrome (GGS), or Nevoid Basal Cell Carcinoma Syndrome, is a rare autosomal dominant disorder characterized by odontogenic keratocysts, skeletal abnormalities, and intracranial calcifications. Early diagnosis is crucial for preventing long-term complications and malignancies. Material and Methods: A 42-year-old female presented with progressive left maxillary swelling and purulent oral discharge. Clinical examination, radiological investigations, and histopathological analysis were performed to establish the diagnosis. Results: Imaging revealed multiple odontogenic keratocysts involving the maxilla and mandible, calcification of the falx cerebri, and bifid ribs. Histopathological examination of the excised maxillary cyst confirmed an odontogenic keratocyst. The presence of three major diagnostic criteria established the diagnosis of Gorlin-Goltz Syndrome. Conclusion: This case underscores the importance of careful clinical and radiological evaluation of patients with odontogenic keratocysts. Early recognition of syndromic associations facilitates timely multidisciplinary management and long-term surveillance, thereby reducing disease-related morbidity.

Keywords: Gorlin-Goltz syndrome; Nevoid basal cell carcinoma syndrome; Odontogenic keratocyst; Falx cerebri calcification; Bifid ribs.

Outline