Suppr超能文献

一名特纳综合征患者的肢端血管角皮瘤

Acral angiokeratomas in a patient with Turner syndrome.

作者信息

Berk David R, Lind Anne C, Bayliss Susan J

机构信息

Division of Dermatology, Departments of Internal Medicine and Pediatrics, Washington University School of Medicine and St Louis Children’s Hospital, St Louis, Missouri 63110, USA.

出版信息

Pediatr Dermatol. 2010 Nov-Dec;27(6):662-4. doi: 10.1111/j.1525-1470.2010.01330.x.

Abstract

Several types of vascular anomalies have been described in patients with Turner syndrome, including cutaneous lymphatic malformations, vascular anomalies of the heart and aorta, acral venous malformations, and intestinal vascular anomalies. Angiokeratomas have rarely been reported in patients with Turner syndrome. Here, we describe a 14-year-old girl with Turner syndrome who presented with a 2-year history of tender bluish-black keratotic acral papules. Biopsy showed acral skin with focal epidermal acanthosis that was centered on a dilated superficial vessel, consistent with an angiokeratoma. Lysosomal enzyme assays were normal, and she did not demonstrate any other features of a lysosomal storage disorder.

摘要

特纳综合征患者中已描述了几种类型的血管异常,包括皮肤淋巴管畸形、心脏和主动脉血管异常、肢端静脉畸形以及肠道血管异常。血管角化瘤在特纳综合征患者中很少有报道。在此,我们描述一名14岁患有特纳综合征的女孩,她有2年的肢端疼痛性蓝黑色角化丘疹病史。活检显示肢端皮肤有以扩张的浅表血管为中心的局灶性表皮棘层增厚,符合血管角化瘤表现。溶酶体酶检测正常,且她未表现出溶酶体贮积症的任何其他特征。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验