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伴有肾脏受累的多发性皮肤和子宫平滑肌瘤病:罕见关联病例报告

Multiple Cutaneous and Uterine Leiomyomatosis with Renal Involvement: Report of a Rare Association.

作者信息

Gupta Gunjan, Sudan Rahul, Mushtaq Sabha

机构信息

Department of Dermatology, Shri Guru Ram Rai Institute of Medical and Health Sciences, Dehradun, Uttarakhand, India.

Department of Medicine, Shri Guru Ram Rai Institute of Medical and Health Sciences, Dehradun, Uttarakhand, India.

出版信息

Indian J Dermatol. 2018 Jan-Feb;63(1):73-75. doi: 10.4103/ijd.IJD_355_17.

Abstract

Cutaneous leiomyomas (CLs) are uncommon benign smooth muscle tumours characterised by solitary or multiple painful nodules. Based on origin, three types are recognised, namely piloleiomyoma, dartoic leiomyoma, and angioleiomyoma, with piloleiomyomas being the commonest one. Reed's syndrome also known as multiple cutaneous and uterine leiomyomatosis (MCULs) is characterised by CLs in men and CLs and uterine fibroids in women. Association of Reed's syndrome with renal cell carcinoma is labelled as hereditary leiomyomatosis and renal cell carcinoma (HLRCC). Both MCUL and HLRCC are caused by a heterozygous mutation in the fumarate hydratase gene. Besides renal cell carcinoma, there were extremely rare reports of association of MCUL with benign renal lesions. We report a case of a 55-year-old female with segmental tender papulonodular lesions suggestive of leiomyoma associated with uterine leiomyomas and unilateral renal cyst. The case is reported here for its rarity and uncommon association with asymptomatic benign renal cyst.

摘要

皮肤平滑肌瘤(CLs)是一种罕见的良性平滑肌肿瘤,其特征为单个或多个疼痛性结节。根据起源,可分为三种类型,即毛发平滑肌瘤、肉膜平滑肌瘤和血管平滑肌瘤,其中毛发平滑肌瘤最为常见。里德综合征也称为多发性皮肤和子宫平滑肌瘤病(MCULs),其特征为男性出现CLs,女性出现CLs和子宫肌瘤。里德综合征与肾细胞癌的关联被称为遗传性平滑肌瘤病和肾细胞癌(HLRCC)。MCUL和HLRCC均由延胡索酸水合酶基因的杂合突变引起。除肾细胞癌外,关于MCUL与良性肾脏病变关联的报道极为罕见。我们报告一例55岁女性,其节段性压痛性丘疹结节性病变提示平滑肌瘤,伴有子宫平滑肌瘤和单侧肾囊肿。本文报告该病例是因其罕见性以及与无症状良性肾囊肿的不常见关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d7e/5838760/f7bd55b02d4c/IJD-63-73-g001.jpg

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