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遗传性平滑肌瘤病和肾细胞癌综合征:一例报告。

Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report.

作者信息

Hayedeh Ghaninejad, Fatemeh Moeineddin, Ahmadreza Rajaee, Masoud Asgari, Ahmad Salimzadeh

机构信息

Department of Dermatology, Razi Hospital ,Tehran University of Medical Sciences, Tehran, Iran.

出版信息

Dermatol Online J. 2008 Jan 15;14(1):16.

Abstract

The simultaneous occurrence of multiple cutaneous leiomyomas, uterine leiomyomatosis, and renal cancer is described as a cancer syndrome with an autosomal dominant pattern of inheritance. We report a 79-year-old man who presented with multiple hyperkeratotic, erythematous nodules on his right leg with a histological diagnosis of pilar leiomyoma. In a review of systems, gross hematuria, weight loss, and bone pain were noted. His pathologic diagnosis was determined to be metastatic papillary renal cell carcinoma. A family history revealed that his sister had a hysterectomy for uterine leiomyomas. The findings in this case can be attributed to hereditary leiomyomatosis and renal cell carcinoma syndrome.

摘要

多发性皮肤平滑肌瘤、子宫平滑肌瘤病和肾癌同时出现被描述为一种具有常染色体显性遗传模式的癌症综合征。我们报告一名79岁男性,其右腿出现多个角化过度的红斑结节,组织学诊断为毛发平滑肌瘤。在系统回顾中,发现有肉眼血尿、体重减轻和骨痛。其病理诊断为转移性乳头状肾细胞癌。家族史显示他的姐姐因子宫平滑肌瘤接受了子宫切除术。该病例的发现可归因于遗传性平滑肌瘤病和肾细胞癌综合征。

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