Hyperparathyroidism jaw tumour syndrome: a pictoral review

AbstractHyperparathyroidism jaw tumour syndrome is a rare autosomal dominant inherited endocrine neoplasia syndrome, which predisposes carriers to develop a triad of multiple ossifying fibromas of the maxilla and mandible, parathyroid adenomas and carcinomas (with consequent hyperparathyroidism) as well as renal and uterine tumours. The prevalence of this condition is unknown. Patients typically present initially with symptoms and signs of a jaw tumour. A high index of suspicion is required for the underlying diagnosis to be recognised, enabling appropriate management of jaw lesions, treatment of hyperparathyroidism, if present, as well as early detection of malignant disease and screening of family members.Teaching points•HPT-JT is a rare autosomal dominant inherited endocrine neoplasia syndrome.•HPT-JT causes facial disfigurement, morbidity secondary to hyperparathyroidism and malignancy.•Patients can present with ossifying fibromas of the jaw, hypercalcaemia or malignancy.•A high index of suspicion is required for the underlying diagnosis to be recognised.•Management involves screening of family members.
Source: Insights into Imaging - Category: Radiology Source Type: research