tailieunhanh - báo cáo khoa học: "Familial tumoral calcinosis in two Chinese patients: a case series"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Familial tumoral calcinosis in two Chinese patients: a case series | Zhang et al. Journal of Medical Case Reports 2011 5 394 http content 5 1 394 JOURNAL OF MEDICAL CASE REPORTS CASE REPORT Open Access Familial tumoral calcinosis in two Chinese patients a case series Che Zhang Jiaowei Gu Xiaoli Cheng and Kui Xiong Abstract Introduction Tumoral calcinosis is a rare and benign condition characterized by massive subcutaneous soft tissue deposits of calcium phosphate predominantly around large joints. Case presentation 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. Conclusion This is the first report of Chinese familial tumoral calcinosis. The etiopathogenisis and treatment are discussed. Introduction 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. Case Presentations Case one A 14-year-old Han Chinese boy presented with an eightyear history of TC. He first noticed a .