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2016 ; 7
(6
): 793-800
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Hyperparathyroidism jaw tumour syndrome: a pictoral review
#MMPMID27651062
du Preez H
; Adams A
; Richards P
; Whitley S
Insights Imaging
2016[Dec]; 7
(6
): 793-800
PMID27651062
show ga
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.