Primary tumor (tumoral) calcification is a rare disease in the practice of a rheumatologist and orthopedist: experience with the use of an interleukin-1 inhibitor in combination with surgical correction

Abstract

Background. Primary tumoral calcinosis is an orphan disease. There are few data in the literature on the incidence of this disease, as well as clinical recommendations for treatment.

Clinical case. This report presents the case of an 11.5-year-old boy with primary tumoral calcinosis and equinus deformity of the foot. The patient had multiple foci of the subcutaneal calcification, cannot walk, experienced fatigue, and had high fever and equinus deformity of the left foot. Immunological and genetic studies were performed, but any specific mutations were not found. After the diagnosis was verified and interleukin-1β inhibitor therapy was prescribed, there was a significant positive trend observed in the patient: a significant improvement in the patient’s general condition, a decrease in the number of calcinates, and a reduction in inflammation. Calcification of the Achilles tendon and gastrocnemius muscle was the cause of the deformity of the left foot.

Discussion. Significant improvement was achieved during treatment: the boy started walking, fatigue was decreased, no new calcificates were formed, and inflammation was under the control. Using an inhibitor of interleukin-1β as a permanent therapy of primary tumoral calcification allowed performsurgical treatment without complications from an operation site, as well as a relapse of deformity.

Conclusion. The clinical case presented here demonstrated the application of an interdisciplinary approach to the treatment of an extremely rare disease.

Keywords

primary tumor calcification / tumoral calcification / familial tumoral calcification / hyperphosphatemic hyperostosis syndrome / canakinumab / equinus deformity / clinical case

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Funding

Russian Foundation for Basic ResearchРоссийский фонд фундаментальных исследований()

RIGHTS & PERMISSIONS

Petukhova V.V., Idrisova R.V., Snegireva L.S., Krasnogorskaya O.L., Suspitsyn E.N., Veselov A.G., Kostik M.M.