摘要家族性肿瘤样钙沉着症是一种常染色体隐性遗传性疾病,其发病与基因突变有关.家族性肿瘤样钙沉着症分为两型,高磷酸血症型和正常磷酸水平型.临床主要表现为皮肤及皮下组织、近关节软组织和(或)内脏组织的钙盐沉着,正常磷酸水平型患者具有高磷酸血症型所没有的炎症表现.特殊的临床表现结合病理活检和影像学检查可确立诊断.此病治疗药物和手术切除均可选择,但疗效欠佳.

abstractsFamilial tumoral calcinosis is a kind of autosomal recessive disease that is associated with gene mutation. Familial tumoral calcinosis is grouped into two types: hyperphosphatemia and normal phosphatemia. It is clinically characterized by calcinosis in skin, cutaneous tissue, periarticular soft tissue and (or) intemal tissue. Patients with normal phosphatemia have inflammatory manifestations that are absent in those with hyperphosphatemia. The diagnosis of familial tumoral calcinosis depends on clinical manifestations, radiology and pathology. Both drugs and surgical excision can be used in the treatment of familial tumoral calcinosis, but the outcome is unsatisfied.