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里德综合征

Reed's Syndrome.

作者信息

Almeida Filipa Tavares, Santos Rui P, Carvalho Sofia D, Brito Maria C

机构信息

Department of Dermatovenereology, Hospital De Braga, Braga, Portugal.

Department of Surgical Pathology, Hospital De Braga, Braga, Portugal.

出版信息

Indian J Dermatol. 2018 May-Jun;63(3):261-263. doi: 10.4103/ijd.IJD_69_18.

Abstract

Multiple cutaneous and uterine leiomyomatosis (MCUL), also known as Reed's syndrome, is a rare genodermatosis, with an autosomal dominant pattern of inheritance. It results from a germline heterozygous mutation of fumarate hydratase gene, that is classified as a tumor suppressor gene. Hereditary leiomyomatosis and renal cell cancer is characterized by the association of MCUL with renal cell carcinoma. We report a case of a 57-year-old woman, with multiple cutaneous leiomyomas as the presenting sign of Reed's syndrome.

摘要

多发性皮肤和子宫平滑肌瘤病(MCUL),也称为里德综合征,是一种罕见的遗传性皮肤病,呈常染色体显性遗传模式。它由富马酸水合酶基因的种系杂合突变引起,该基因被归类为肿瘤抑制基因。遗传性平滑肌瘤病和肾细胞癌的特征是MCUL与肾细胞癌相关。我们报告一例57岁女性,以多发性皮肤平滑肌瘤作为里德综合征的首发症状。

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