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Familial tumoral calcinosis in two Chinese patients: a case series

DOI: 10.1186/1752-1947-5-394

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Abstract:

Familial tumoral calcinosis was present in two members of a Han Chinese family, namely, the son and daughter. The 14-year-old son had the first operation on his right sole of the foot at the age of six, and then experienced subsequent surgeries at a lesion in his right sole of the foot and left hip, respectively. The 16-year-old daughter underwent her first operation at the age of six in her left gluteal region, and subsequent surgeries were performed due to recurrence at the same lesion. Pathologic diagnoses of surgical specimens in both of the patients were reported as tumoral calcinosis. The laboratory results showed hyperphosphatemia with normal levels of serum calcium and alkaline phosphatase. Only surgical treatment was performed in both patients with satisfactory prognosis.This is the first report of Chinese familial tumoral calcinosis. The etiopathogenisis and treatment are discussed.Tumoral calcinosis (TC) was first described by Inclan [1] in 1943 as slow growing, progressive masses usually found adjacent to large joints such as hips, shoulders and elbows. The masses are hard and painless. Recurrence tends to be observed at the same location subsequent to inadequate resection. Further identification is based on the pathogenesis. We describe the first two cases of familial TC in Chinese siblings, and present their clinical and pathological features.A 14-year-old Han Chinese boy presented with an eight-year history of TC. He first noticed a painful mass on the bottom of his right foot at the age of six, and mass resection was performed. Then an operation was conducted for a mass that developed on the bottom of his left foot at the age of eight. A mass first occurred on his left hip at the age of 12. This mass excised and diagnosed on pathology as a tendon calcification tumor. After that, a recurrent mass on his lateral left hip was observed. On physical examination, the mass was firm, sessile, with a clear edge and normal skin temperature, and measured 4 × 5

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