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两代共 9 名家族成员受累的家族性皮肤平滑肌瘤病,包括 Reed 综合征 4 例。

Familial leiomyomatosis cutis affecting nine family members in two successive generations including four cases of Reed's syndrome.

机构信息

Department of Dermatology, Venereology, and Leprosy, North Bengal Medical College, Darjeeling, West Bengal, India.

出版信息

Indian J Dermatol Venereol Leprol. 2013 Jan-Feb;79(1):83-7. doi: 10.4103/0378-6323.104674.

Abstract

Reed's syndrome or familial leiomyomatosis cutis et uteri is an autosomal dominant disorder, characterized by multiple cutaneous and uterine leiomyomas. We report here a case of a 53-year-old woman who presented to us with multiple painful nodules over different parts of her body. Based on the histopathological examination, imaging, and past medical records, a diagnosis of Reed's syndrome was made. Three of her sisters had similar disease. Subsequently, it was found that a total of nine members of their family in two successive generations were affected with cutaneous leiomyomas. The present case series has been reported for its interesting clinical presentations and rarity.

摘要

里德综合征或家族性皮肤及子宫平滑肌瘤病是一种常染色体显性遗传疾病,其特征为多发性皮肤和子宫平滑肌瘤。我们在此报告一例 53 岁女性,她因身体不同部位出现多个疼痛性结节就诊。根据组织病理学检查、影像学检查和既往病史,诊断为里德综合征。她的 3 位姐妹也患有类似疾病。随后发现,连续两代家族中共有 9 名成员患有皮肤平滑肌瘤。本病例系列报告具有其有趣的临床表现和罕见性。

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