Hyperparathyroidism jaw tumour syndrome: a pictoral review

Abstract

Hyperparathyroidism 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.

Hyperparathyroidism Jaw Tumor Syndrome Presenting as Recurrent Femur Fractures in a Young Woman; a Rare Presentation of a Rare Disease

“…is case depicts a rare presentation of a rare disease. e typical initial presentation of individuals with HPT-JT is reported to be jaw and teeth deformities as a result of ossifying fibromas of mandible or maxilla [9]. In contrast, this patient's initial clinical manifestation was a nephroblastoma developed during childhood.…”

“…Ossifying fibromas of the jaw, which this patient developed as the second manifestation of the disease at the age of 14 years, is a well-described manifestation of HPT-JT syndrome, which is shown to occur in 50% of these patients, usually in the adolescent age [9,11]. ese are benign lesions which demonstrate locally invasive features.…”

“…Renal manifestations, including renal cysts, hamartoma, and nephroblastoma (Wilms' tumor), are well described but rare manifestations of HPT-JT syndrome. Wilms' tumors have been described in less than 3% of patients with the mutation, and despite a through literature survey, we did not come across cases where nephroblastoma has presented as the initial manifestation of HPT-JT syndrome as in this case [9,11,12].…”

“…HPT-JT is an autosomal dominant syndrome with incomplete penetrance. e patients present with parathyroid tumors, ossifying fibromas of jaw, and a variety of renal and uterine tumors [8,9]. is is due to mutation of CDC73 tumor suppression gene, which encodes the protein named Parafibromin, which is responsible for the cell cycle arrest [8].…”

Atypical presentations of parathyroid gland pathology: A pictorial review

“…These fibro-osseous lesions may be solitary or multiple, uni or multilocular or demonstrate varying degrees of internal matrix mineralisation. Larger lesions can cause significant craniofacial deformity and morbidity given their locally aggressive nature [30] (Fig. 14).…”