[1]张红爱,张娟利,于淑群,等.新生儿色素失禁症7例临床分析[J].中国皮肤性病学杂志,2014,(02):145-146.
 ZHANG Hongai,ZHANG Juanli,YU Shuqun,et al.Clinical Analysis of Incontinentia Pigmenti in 7 Cases with Neonates[J].The Chinese Journal of Dermatovenereology,2014,(02):145-146.
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新生儿色素失禁症7例临床分析
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《中国皮肤性病学杂志》[ISSN:1001-7089/CN:61-1197/R]

卷:
期数:
2014年02期
页码:
145-146
栏目:
临床经验
出版日期:
2014-02-20

文章信息/Info

Title:
Clinical Analysis of Incontinentia Pigmenti in 7 Cases with Neonates
作者:
张红爱张娟利于淑群曾珠马海欣
西安市儿童医院新生儿科,陕西 西安 710003
Author(s):
ZHANG HongaiZHANG JuanliYU ShuqunZENG ZhuMA Haixin
Department of Neonatology,Childrens Hospital of Xian,Xian 710003,China
关键词:
新生儿色素失禁症临床分析
Keywords:
Neonatal Incontinentia pigmenti Clinical analysis
分类号:
R 758.5
文献标志码:
B
摘要:
目的 探讨新生儿色素失禁症的临床特点。 方法 对本院2005年1月-2013年5月收治的7例色素失禁症患儿的临床特点进行分析。 结果 7例患儿中,6例为女性,1例为男性,2例为双胞胎早产儿。6例出生时即有典型的三期皮疹,1例生后第3天出现,皮疹主要表现为红斑水疱期和色素沉着期。3例外周血嗜酸性粒细胞数比例明显升高,3例行皮肤活检,病理结果支持该诊断,2例合并癫痫,1例有眼底损害。 结论 色素失禁症是一种少见的X连锁的显性遗传病,新生儿期主要表现为皮肤损害,可累及多系统,皮肤组织病理和染色体的基因分析是确诊方法,应进行定期随访。
Abstract:
Objective To investigate the clinical manifestations of incontinentia pigmenti(IP) in the neonatal period. Methods The clinical features of 7 neonatal IP patients who hospitalized at Xian childrens hospital from January 2005 to may 2013,were analyzed. Results There were 6 cases out of 7 infants were female,only one case was male,two cases were premature twins.Six cases had 3 typical skin leions at birth and one case occurred three days after birth,skin rashs mainly performance as erythema,blisters and inklike pigmentation.The eosinophil count in peripheral blood was significantly increased in 3 patients,3 cases of skin pathology biopsy support diagnosis.Two patients with epilepsy,one patient existed eye abnormalities. Conclusion IP is a rare xlinked dominant genetic disease,the mainly clinical feature in neonatal period is skin lesions.It can affect multiple systems.Diagnosis method is the skin biopsy and genetic analysis,and it should be followed up regularly.

参考文献/References:


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更新日期/Last Update: 2014-02-20