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头皮综合征:是什么及其眼部表现。

SCALP syndrome: What is it and its ophthalmic manifestations.

作者信息

Chan Geoffrey Z P, Stevenson Louis, Sinkar Swati, Lam Geoffrey C

机构信息

Department of Ophthalmology, Perth Children's Hospital, QE II Medical Centre, Nedlands, Western Australia, 6009, Australia.

School of Paediatrics and Child Health, The University of Western Australia, GPO Box D184, Perth, Western Australia, 6840, Australia.

出版信息

Am J Ophthalmol Case Rep. 2018 Apr 21;11:10-12. doi: 10.1016/j.ajoc.2018.04.018. eCollection 2018 Sep.

DOI:10.1016/j.ajoc.2018.04.018
PMID:30051001
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6058059/
Abstract

PURPOSE

To present the ophthalmic manifestations of a 3-month old female with SCALP syndrome.

OBSERVATIONS

The patient presented with multiple ocular anomalies including bilateral limbal dermoids, esotropia and left optic nerve hypoplasia.

CONCLUSIONS

We describe systemic and ocular anomalies in a rare case of SCALP syndrome. This report provides additional information on the ocular anomalies not previously described that may be associated with this clinical entity.

摘要

目的

介绍一名患有头皮综合征(SCALP syndrome)的3个月大女性的眼科表现。

观察结果

该患者出现多种眼部异常,包括双侧角膜缘皮样瘤、内斜视和左侧视神经发育不全。

结论

我们描述了一例罕见的头皮综合征患者的全身及眼部异常情况。本报告提供了关于此前未描述过的、可能与该临床病症相关的眼部异常的更多信息。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d75d/6058059/bf0d76c0cde6/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d75d/6058059/aeb3d4ffd63c/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d75d/6058059/05c63a9539b9/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d75d/6058059/66d2438982ae/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d75d/6058059/bf0d76c0cde6/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d75d/6058059/aeb3d4ffd63c/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d75d/6058059/05c63a9539b9/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d75d/6058059/66d2438982ae/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d75d/6058059/bf0d76c0cde6/gr4.jpg

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本文引用的文献

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Aplasia cutis congenita: report of 22 cases.先天性皮肤发育不全:22例报告。
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2
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.HRAS 和 NRAS 中的多谱系体细胞激活突变导致镶嵌性皮肤和骨骼病变、FGF23 升高和低磷血症。
Hum Mol Genet. 2014 Jan 15;23(2):397-407. doi: 10.1093/hmg/ddt429. Epub 2013 Sep 4.
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Giant congenital melanocytic nevi: a case report.巨大先天性黑素细胞痣:一例报告
J Clin Diagn Res. 2013 Jan;7(1):154-5. doi: 10.7860/JCDR/2012/4832.2693. Epub 2012 Nov 1.
4
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J Am Acad Dermatol. 2008 May;58(5):884-8. doi: 10.1016/j.jaad.2007.09.029. Epub 2008 Jan 30.
5
[Tumors associated with nevus sebaceous].[与皮脂腺痣相关的肿瘤]
J Dtsch Dermatol Ges. 2006 Jan;4(1):28-31. doi: 10.1111/j.1610-0387.2006.05855.x.
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Multiple hamartomas associated with intracranial malformation.与颅内畸形相关的多发性错构瘤。
Pediatr Dermatol. 1986 Jun;3(3):219-25. doi: 10.1111/j.1525-1470.1986.tb00517.x.