Familial Primary Hyperparathyroidism Associated To Tumors In The Maxilla

FERNÁNDEZ MARÍA CANDELA; PARISI MURIEL SOLANGE; BAGUR ALICIA; OLIVERI BEATRIZ

Philadelphia -Pennsylvania -USA

Congreso; 28th Anual Meeting ASBMR; 2006

ASBMR

Familial primary hyperparathyroidism associated to tumors in the jaw (HPT-JT) is an autosomal dominantpredisposition to hyperparathyroidism (HPT), ossifying fibromas of the mandible and maxilla, renal cyst orWilms tumor and a high incidence of parathyroid carcinoma. A mutation of a multitumoral supression gene,the HPRT2, is responsible for this syndrome. Usually, ossifying fibromas do not remit afterparathyroidectomy and if they do, they may recur.Case Report: A 39-year old woman consulted for pronounced weight loss, severe bone and muscular pain and3 tumors in the maxilla with a 7 month course. She presented an extensive facial swelling with an importantinvolvement of soft tissues. Laboratory determinations revealed severe hypercalcemia, hypophosphatemia andincreased intact parathyroid hormone (iPTH). Whole body bone scintigraphy showed high uptake in calvariaand maxilla. Radiographs exhibited multiple lytic images. Ultrasonography showed bilateral renal lithiasis.Severe osteopenia was observed in total skeleton. (Z-score: -3.7). Craneofacial Computer Tomography scanrevealed gross osteolysis in the left hemimaxilla extending to the midline and floor of the mouth withextensive involvement of soft tissues.Upper right parathyroidectomy was performed. The histopathological diagnosis was principal cell adenoma.After parathyroidectomy, iPTH returned to normal levels. In the third monthly control, facial swelling haddisappeared and tumors images by Computer Tomography scan showed no changes. The patient’s family isbeing studied. The diagnosis of HPT-JT is proposed. Genetic diagnosis remains pending. Cases of severeHPT associated to tumors in the maxilla must be evaluated rigorously, ruling out parathyroid carcinoma,searching for other associated tumors, and investigating mineral metabolism alterations in patient’s family.Patient follow-up post parathyroidectomy is recommended because of possible recurrences