[1]陈光华,任发亮.表皮痣综合征1例[J].中国皮肤性病学杂志,2018,(11):1286-1287.[doi:10.13735/j.cjdv.1001-7089.201712030]
 CHEN Guanghua,REN Faliang.A Case of Schimmelpenning Syndrome[J].The Chinese Journal of Dermatovenereology,2018,(11):1286-1287.[doi:10.13735/j.cjdv.1001-7089.201712030]
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表皮痣综合征1例
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《中国皮肤性病学杂志》[ISSN:1001-7089/CN:61-1197/R]

卷:
期数:
2018年11期
页码:
1286-1287
栏目:
病例报告
出版日期:
2018-11-16

文章信息/Info

Title:
A Case of Schimmelpenning Syndrome
作者:
陈光华任发亮
重庆医科大学附属儿童医院皮肤科,重庆 400014
Author(s):
CHEN GuanghuaREN Faliang
Department of Dermatology,Children′s Hospital Affiliated to Chongqing Medical University,Chong qing 400014,China
关键词:
表皮痣综合征多系统损害
Keywords:
Schimmelpenning syndromeMultisystem injury
分类号:
R 758.5
DOI:
10.13735/j.cjdv.1001-7089.201712030
文献标志码:
B
摘要:
患儿男,3个月,心律不齐3个月,抽搐5次。生长发育落后,面容特殊,右侧眼球、眼睑异常。头顶、枕部及右侧额面部条带状分布黄色斑块。心脏听诊律不齐。动态心电图、心脏彩超异常。脑电图异常,脑MRI提示多处结构异常。诊断:表皮痣综合征。
Abstract:
A 3-month-old boy had arrhythmia at birth and hyperspasmia for five times. Physical examination showed growth retardation,special facial features,and anomal right eye and eyelid. Yellow patches could be detected in overhead and occipital area and right forehead as well. Arrhythmia could also be found when taking cardiac auscultation. Dynamic electrocardiogram and cardiac rhrasonography were abnormal. Abnormal electroencephalogram and brainmagnetic resonance imaging suggested several structural disorders. Diagnosis:Schimmelpenning syndrome.

参考文献/References:


[1] Schimmelpenning GW. Clinical contribution to symptomatology of phacomatosis[J]. Fortschr Geb Rontgenstr Nuklearmed,1957,87(6):716-720.
[2] Feuerstein RC,Mims LC. Linear nevus sebaceous with convulsions and mental retardation[J]. Am J Dis Child,1962,104:675-679.
[3] Van de Warrenburg BP,van Gulik S,Renier WO,et al. The linear naevus sebaceous syndrome[J]. Clin Neurol Neurosurg,1998,100(2):126-132.
[4] Insler MS,Davlin L. Ocular findings in linear sebaceous naevus syndrome[J]. Br J Ophthalmol,1987,71(4):268-272.
[5] Santibanez-Gallerani A,Marshall D,Duarte AM,et al. Should nevus sebaceus of Jadassohn in children be excised? A study of 757 cases,and literature review[J]. J Craniofac Surg,2003,14(5):658-660.
[6] Zutt M,Strutz F,Happle R,et al. SchimmelpenningeFeuersteineMims syndrome with hypophosphatemic rickets[J]. Dermatology,2003,207(1):72-76.
[7] Eisen DB,Michael DJ. Sebaceous lesions and their associated syndromes:part II[J]. J Am Acad Dermatol,2009,61(4):563-578.

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备注/Memo

备注/Memo:

[作者单位]重庆医科大学附属儿童医院皮肤科,重庆 400014
[通讯作者]任发亮,E-mail:renfaliang@qq.com
更新日期/Last Update: 2018-10-30