Navigating Beyond a Cyst: The Intricate World of Gorlin Goltz Syndrome - A Case Report.

Abstract

Rationale: The importance of a comprehensive and interdisciplinary approach in early diagnosis and managing patients with rare genetic disorders must be highlighted appropriately. This case report delves into the complex clinical presentation of a patient with Gorlin-Goltz Syndrome, emphasizing the multifaceted challenges encountered during diagnosis, treatment, and long-term management and involves a detailed exploration of the patient's clinical history, encompassing cutaneous manifestations, skeletal anomalies, and neurological findings radiological imaging also plays a pivotal role in guiding towards the diagnostic process and forming the basis for a multidisciplinary approach for management of the patient.

Patient concerns: A previously treated case for pain in lower left tooth region, patient concerns for pain and pus discharge from same region.

Diagnosis: After thorough clinical and radiographic findings patient was diagnosed with Gorlin goltz syndrome having multiple cysts.

Treatment: Cyst enucleation of all cysts done under General Anaesthesia along with application of carnoy's solution.

Outcomes: Postoperatively regular follow-up revealed satisfactory bone healing with no signs of recurrence and patient was educated concerning the syndrome.

Take-away lessons: Gorlin-Goltz Syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare autosomal dominant disorder characterized by a constellation of developmental abnormalities and an elevated predisposition to specific malignancies, particularly basal cell carcinoma. This case report describes the way of navigating the complexities of this syndrome and helps inform future diagnostic strategies, treatment modalities, and genetic counseling practices for individuals affected by it.