Primary tumoral calcinosis: rapid therapeautic response to acetazolamide

Tumoral calcinosis is an inherited disorder characterized by periarticular calcified masses and hyperphosphatemia. It is associated with increased serum 1,25 dihydroxy-vitamin D and serum phosphate. Surgical extraction of the tumor masses may lead to new lesions and pharmacologic therapies have produced only limited success. We present an 18 year old man with multiple periarticular soft tissue masses and hyperphosphatemia. After biochemical and pathological assessments, primary tumoral calcinosis was diagnosed and the patient was treated with acetazolamide. After four weeks of therapy with acetazolamide soft tissue, masses regressed significantly, and the serum phosphate level returned to the normal range. Keywords: