[1]陈瑞萍,杨庆琪,曲丽娜,等.不伴毛发异常的Netherton综合征1例[J].中国皮肤性病学杂志,2018,(11):1288-1290.[doi:10.13735/j.cjdv.1001-7089.201709085]
 CHEN Ruiping,YANG Qingqi,QYU Lina,et al.A Case of Netherton Syndrome without Bamboo Hair[J].The Chinese Journal of Dermatovenereology,2018,(11):1288-1290.[doi:10.13735/j.cjdv.1001-7089.201709085]
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不伴毛发异常的Netherton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:
1288-1290
栏目:
病例报告
出版日期:
2018-11-16

文章信息/Info

Title:
A Case of Netherton Syndrome without Bamboo Hair
作者:
陈瑞萍1杨庆琪1曲丽娜2郭广进3
1.空军总医院皮肤科,北京 100142;2.大庆市龙南医院皮肤科,黑龙江 大庆 163000;3.空军总医院中心实验室,北京 100142
Author(s):
CHEN Ruiping1YANG Qingqi1QYU Lina2GUO Guangjin3
1.Department of Dermatology,Air Force General Hospital,Beijing 100142,China;2.Department of Dermatology,Longnan Hospital of Daqing,Daqing 163000,China;3.Central Laboratory,Air Force General Hospital,Beijing 100142,China
关键词:
Netherton综合征SPINK基因
Keywords:
Netherton syndromeSPINK gene
分类号:
R 758.5
DOI:
10.13735/j.cjdv.1001-7089.201709085
文献标志码:
B
摘要:
患者女,35岁,父母为表兄妹近亲结婚,出生后第3天起全身出现弥漫性红斑、水疱、渗出。此后皮疹反复发作,以红斑、脱屑为主,红斑呈特殊的环状、匍匐状,伴有水疱、脓疱,可见双边脱屑,瘙痒剧烈。患者家族中无类似病例,全身毛发正常,皮损组织病理及免疫荧光结果均无特殊,经PCR及DNA测序检测,证实患者SPINK基因存在c.2015+1G>T纯合突变,确诊为Netherton综合征。
Abstract:
A 35-years-old female patient,whose parents were cousin marriage. She presented with erythema,scales,pruritus,blister and pustules for more than 30 years.There were no similar cases in her family. She had normal hair all over the body,and her histopathological and immunofluorescent results were not specific. Detected by PCR and DNA sequencing,c.2015+1G>T homozygous mutations in the SPINK gene were confirmed.

参考文献/References:


[1] 赵辨.中国临床皮肤病学[M].南京:江苏科学技术出版社,2009:1710.
[2] Chavanas S,Bodemer C,Rochat A,et al. Mutations in SPINK5,encoding a serine protease inhibitor,cause Netherton syndrome[J]. Nat Genet,2000,25(2):141-142.
[3] Hovnanian A. Netherton syndrome:skin inflammation and allergy by loss of protease inhibition[J].Cell Tissue Res,2013,351(2):289-300.
[4] Torchia D,Schachner LA. Picture of the month. Comel-Netherton syndrome without bamboo hair[J]. Arch Pediatr Adolesc Med,2011,165(8):763.
[5] 唐新平,刘乐斌,杨小红,等.不伴套叠性脆发的2例Netherton综合征致病基因突变检测[J].临床皮肤科杂志,2015,44(9):539-542.
[6] 张三泉,何玉清,罗育武,等.SPINKS基因突变分析及LEKTI蛋白检测对Netherton综合征诊断的应用研究[J].中国麻风皮肤病杂志,2010,26(6):405-407.
[7] 闫薇,薛晓东,李薇,等.Netherton综合征[J].临床皮肤科杂志,2010,39(2):102-104.

相似文献/References:

[1]郑宝庆*,颜韵灵,欧敏,等.Netherton综合征1例并文献复习[J].中国皮肤性病学杂志,2020,(11):1295.[doi:10.13735/j.cjdv.1001-7089.202001070]
 ZHENG Baoqing*,YAN Yunling,OU Min,et al.A Case of Netherton Syndrome and Literature Review[J].The Chinese Journal of Dermatovenereology,2020,(11):1295.[doi:10.13735/j.cjdv.1001-7089.202001070]

备注/Memo

备注/Memo:

[作者单位]1.空军总医院皮肤科,北京 100142;2.大庆市龙南医院皮肤科,黑龙江 大庆 163000;3.空军总医院中心实验室,北京 100142
更新日期/Last Update: 2018-10-30