Tumoral calcinosis in an 8-year-old girl: A case report

Résumé fourni par la source

Tumoral Calcinosis is a rare, benign metabolic disorder, characterized by the deposition of calcium phosphate crystals in extra-articular soft tissues. Less than 400 cases have been described globally, with only around 10 % being described in the pediatric population. Large bilateral masses are exceedingly rare. We present a case of an 8-year-old female with bilateral 15 × 10cm posterior chest wall masses, who presented following a one-year history of enlargement. The patient had no medical or family history. A diagnosis of primary hyperphosphataemic tumoral calcinosis was suspected based on biochemistry and imaging. The patient had a raised phosphate and normal parathyroid hormone level, while ultrasound and Computed Tomography scans showed multilocular, calcified lesions with solid and cystic components. Core needle biopsy confirmed a diagnosis of tumoral calcinosis. Staged surgery was undertaken to resect the masses, which had extensive regional invasion. Clear margins were attained, with a rim of normal tissue on histology. The patient developed recurrent bilateral 15 × 20cm masses one year later, having defaulted post-operative treatment with Acetazolamide and Aluminium Hydroxide. Further surgery and medical management with the above agents was required. Six months post-surgery for the recurrence, no further recurrence was noted, but following poor adherence to her medical therapy another year later, there has been recurrence on the right, measuring 5 × 5cm. Treatment with Acetazolamide and Aluminium Hydroxide continue, with close observation for further growth. A combination of targeted medical therapy with Acetazolamide and Aluminium Hydroxide, and early surgical resection, may limit the risk of recurrence in hyperphosphatemic tumoral calcinosis in the pediatric population.

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