Primary hyperphosphatemic tumoral calcinosis: a case report

被引:3
作者
Huang, J. [1 ]
Cao, L-G [1 ]
Zhang, T-R [1 ]
Li, S-M [1 ]
Meng, Q-Q [1 ]
机构
[1] Jinan Univ, Guangzhou Red Cross Hosp, Dept Orthoped, Guangzhou, Peoples R China
关键词
Case report; Hyperphosphatemic; Primary; Tumoral calcinosis; SAMD9;
D O I
10.1007/s00198-021-06056-5
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Tumoral calcinosis (TC) is a rare disease characterized by periarticular soft tissue calcification. Some cases were reported in Africa and the Middle East. We report an 11-year-old Chinese girl presenting with recurrent multiple subcutaneous masses around the right elbow and hip regions. Although we found abnormalities in FGF23, a protein associated with phosphate metabolism, no positive results were observed in gene sequencing and analysis. The imaging features, laboratory examination, and pathology results confirmed our diagnosis. By using oral phosphorus-lowering drugs (acetazolamide) combined with complete surgical excision, good results were achieved, and no recurrence was reported during the follow-up of 18 months. We report a case of primary hyperphosphatemic TC. The combined use of oral phosphorus-lowering drugs (acetazolamide) and complete surgical excision produced good results, and no recurrence was reported during the follow-up of 18 months.
引用
收藏
页码:309 / 312
页数:4
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