Exploring a Rare Case of Hyperparathyroidism-Jaw Tumor Syndrome: A Detailed Case Report

Jaw Tumor Syndrome synonymous for Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT), is a infrequent genetic disorder inherited in an autosomal dominant pattern. It is marked by the formation of ossifying fibromas in the jaw as well as parathyroid adenomas or carcinomas. In some families, affected individuals have also experienced kidney-related issues, including Wilms tumors, nephroblastomas, renal cysts, polycystic kidney disease, and hamartomas, with rare occurrences of uterine lesions1. This syndrome is associated with mutations in the CDC73 gene, which encodes the tumor suppressor protein parafibromin. Patients typically present with symptoms in late adolescence or early adulthood, including jaw swelling, hypercalcemia, and renal complications. Early diagnosis is crucial for effective management and surveillance, as the syndrome carries a significant risk of malignancy. This syndrome is both clinically and genetically different from other endocrine neoplasia syndromes and seems to be caused by mutations in a gene associated with endocrine tumors, known as “HRPT2.”This article highlights the clinical features, genetic basis, diagnostic criteria, and management strategies for HPT-JT, emphasises the importance of genetic counseling and regular monitoring for affected individuals and their families. We seek to raise awareness among healthcare providers about this rare but significant differential diagnosis through a detailed case report and a comprehensive review of the literature.