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患者同时患有多种颅皮综合征，其眼部特征也较为罕见。

Ocular features in a patient presenting with a rare combination of multiple phakomatoses.

机构信息

Department of Glaucoma, Aravind Eye Hospital, Madurai, Tamil Nadu, India.

Department of Vitreoretinal services, C.L. Gupta Eye Institute, Moradabad, Uttar Pradesh, India

出版信息

BMJ Case Rep. 2022 Nov 16;15(11):e252746. doi: 10.1136/bcr-2022-252746.

DOI:10.1136/bcr-2022-252746
PMID:36384883
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9670835/
Abstract

Phakomatoses are a group of congenital disorders characterised by hamartomatous lesions of the skin as well as the central and peripheral nervous systems. The presence of naevus flammeus or port-wine stain is a characteristic feature of many such disorders including Sturge-Weber syndrome (SWS), Klippel-Trenaunay syndrome (KTS) and Phakomatosis pigmentovascularis (PPV).We describe the ocular findings in a patient with coexisting PPV, SWS and KTS.

摘要

痣样畸形是一组先天性疾病，其特征为皮肤以及中枢和周围神经系统的错构瘤性病变。许多此类疾病（包括 Sturge-Weber 综合征[SWS]、Klippel-Trenaunay 综合征[KTS]和色素血管性痣样畸形[PPV]）都具有火焰状痣或葡萄酒色斑的特征。我们描述了一名同时患有 PPV、SWS 和 KTS 的患者的眼部发现。

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本文引用的文献

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Bilateral Phacomatosis Pigmentovascularis in a Young Male with Developmental Glaucoma and Varicose Veins.一名患有发育性青光眼和静脉曲张的年轻男性的双侧色素血管性母斑病
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CHOROIDAL MELANOMA IN PHAKOMATOSIS PIGMENTOVASCULARIS WITH KLIPPEL-TRENAUNAY SYNDROME.脉络膜黑色素瘤合并克莱佩尔-特劳纳综合征的色素血管性息肉病。
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Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?斯特奇-韦伯综合征、克-特综合征和色素血管性母斑病的眼部改变：一组独立的病症？
Biomed Res Int. 2015;2015:786519. doi: 10.1155/2015/786519. Epub 2015 Sep 16.
8
Phakomatosis pigmentovascularis presenting with sturge-weber syndrome and klippel-trenaunay syndrome.合并斯特奇-韦伯综合征和克-特综合征的色素血管性斑痣性错构瘤病
Indian J Dermatol. 2015 Jan-Feb;60(1):77-9. doi: 10.4103/0019-5154.147801.
9
Sturge-Weber syndrome in association with Klippel-Trenaunay syndrome and phakomatosis pigmentovascularis type IIb.斯特奇-韦伯综合征合并克-特综合征及IIb型色素血管性斑痣性错构瘤病。
Indian J Dermatol Venereol Leprol. 2014 Jan-Feb;80(1):51-3. doi: 10.4103/0378-6323.125507.
10
Increased choroidal thickness in patients with Sturge-Weber syndrome.Sturge-Weber 综合征患者脉络膜厚度增加。
JAMA Ophthalmol. 2013 Sep;131(9):1216-9. doi: 10.1001/jamaophthalmol.2013.4044.