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与多发性先天性血管瘤相关的杂合性蛋白C缺乏症——病例报告

Heterozygous protein C deficiency associated with multiple congenital hemangiomas--a case report.

作者信息

Simioni P, Zanon G, Lazzaro A R, Patrassi G M, Girolami A

机构信息

Second Department of Medicine, University of Padua Medical School, Italy.

出版信息

Angiology. 1991 Apr;42(4):337-42. doi: 10.1177/000331979104200412.

Abstract

Congenital protein C deficiency is described as associated with recurrent thrombotic manifestations. The proband, a fourteen-year-old female, has a history of severe and frequent thrombotic disease, moreover, she presents congenital multiple hemangiomas. Family history was positive for protein C deficiency since the mother of the proposita is also affected and has manifested deep venous thrombophlebitis. Two additional relatives on the maternal side were not available for study but were reported to be symptomatic. None of the family members presented angiomatosis. This case report represents the first description of the association of protein C deficiency with multiple hemangiomas.

摘要

先天性蛋白C缺乏症被描述为与复发性血栓形成表现相关。先证者是一名14岁女性,有严重且频繁的血栓性疾病病史,此外,她还患有先天性多发性血管瘤。家族史中蛋白C缺乏呈阳性,因为先证者的母亲也受影响且已出现深静脉血栓性静脉炎。母系的另外两名亲属无法进行研究,但据报告有症状。家族成员均未出现血管瘤病。本病例报告首次描述了蛋白C缺乏与多发性血管瘤的关联。

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