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[同一家庭中三名患者的家族性肿瘤性钙化症]

[Familial tumoral calcinosis in three patients in the same family].

作者信息

Yurdoğlu Cihangir, Ozbaydar Mehmet Uğur, Adaş Müjdat, Ozger Harzem

机构信息

Okmeydani Eğitim ve Araştirma Hastanesi Ortopedi ve Travmatoloji Kliniği.

出版信息

Acta Orthop Traumatol Turc. 2007;41(3):244-8.

PMID:17876123
Abstract

Tumoral calcinosis is a rare condition characterized by large calcific soft tissue deposits occurring predominantly in a periarticular location. Familial tumoral calcinosis was detected in three members of a family, namely, the father and two offsprings. The father underwent many operations since age 10 for occurrences or recurrences of mass lesions in the right posterior elbow, both hips, left gluteal region, and perineal region. His 16-year-old son underwent his first operation at the age of 10 for a lesion in the posterior elbow, which recurred at the same site and required another operation two years later. He underwent subsequent surgeries for lesions that appeared in the right elbow and right dorsal foot. Finally, the 12-year-old daughter was treated with surgery for a lesion in the right dorsal foot. In all the patients, pathologic diagnoses of all surgical specimens were reported as tumoral calcinosis. All had normocalcemia, hyperphosphatemia, and D hypervitaminosis.

摘要

肿瘤性钙化是一种罕见的疾病,其特征是主要在关节周围部位出现大量钙化软组织沉积物。在一个家庭的三名成员中发现了家族性肿瘤性钙化,即父亲和两个子女。父亲自10岁起就因右后肘部、双髋部、左臀区域和会阴区域出现或复发肿块病变而接受了多次手术。他16岁的儿子在10岁时因肘部后方的病变接受了第一次手术,该病变在同一部位复发,两年后需要再次手术。他随后又因右肘部和右足背出现的病变接受了手术。最后,12岁的女儿因右足背的病变接受了手术治疗。在所有患者中,所有手术标本的病理诊断均报告为肿瘤性钙化。所有患者均血钙正常、血磷升高和维生素D过多。

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[Familial tumoral calcinosis in three patients in the same family].[同一家庭中三名患者的家族性肿瘤性钙化症]
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Familial tumoral calcinosis in two Chinese patients: a case series.两名中国患者的家族性肿瘤性钙化:病例系列
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