Hyperparathyroidism-Jaw Tumor Syndrome: A Case Report

Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a rare multitumor syndrome that includes primary hyperparathyroidism, fibro-osseous lesions of the mandible and maxilla, renal tumors and cysts, and uterine tumors. It was first reported by Jackson in 1958. Since then, multiple cases have been identified. This syndrome has an autosomal dominant pattern of inheritance, and is linked to a mutation in the gene HRPT2 on the long arm of chromosome 1 that encodes for a protein parafibromin. Although the exact function of parafibromin is currently unknown, it is believed to be involved in tumor suppression.