布洛赫-苏兹伯格综合症:一个病例报告

Anna Rosińska-Więckowicz, M. Czarnecka-Operacz
{"title":"布洛赫-苏兹伯格综合症:一个病例报告","authors":"Anna Rosińska-Więckowicz, M. Czarnecka-Operacz","doi":"10.5114/pdia.2012.31494","DOIUrl":null,"url":null,"abstract":"Incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) is a very rare genodermatosis characterized by typical skin lesions accompanied by dental, central nervous system, bone and ocular abnormalities. Incontinentia pigmenti is usually observed among women, as this X-linked dominantly inherited disorder is lethal in males. The hallmark fea ture of IP is cutaneous eruption along the lines of Blaschko, usually accompanied by neurological disorders. Apart from clinical features of the disease, skin biopsy is the best diagnostic tool to confirm the diagnosis. We present a case of a newborn with typical vesicular and then verrucous lesions affecting the lower legs.","PeriodicalId":7212,"journal":{"name":"Advances in Dermatology and Allergology/Postȩpy Dermatologii i Alergologii","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2012-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"Case report Bloch-Sulzberger syndrome: a case report\",\"authors\":\"Anna Rosińska-Więckowicz, M. Czarnecka-Operacz\",\"doi\":\"10.5114/pdia.2012.31494\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) is a very rare genodermatosis characterized by typical skin lesions accompanied by dental, central nervous system, bone and ocular abnormalities. Incontinentia pigmenti is usually observed among women, as this X-linked dominantly inherited disorder is lethal in males. The hallmark fea ture of IP is cutaneous eruption along the lines of Blaschko, usually accompanied by neurological disorders. Apart from clinical features of the disease, skin biopsy is the best diagnostic tool to confirm the diagnosis. We present a case of a newborn with typical vesicular and then verrucous lesions affecting the lower legs.\",\"PeriodicalId\":7212,\"journal\":{\"name\":\"Advances in Dermatology and Allergology/Postȩpy Dermatologii i Alergologii\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2012-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Advances in Dermatology and Allergology/Postȩpy Dermatologii i Alergologii\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5114/pdia.2012.31494\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Advances in Dermatology and Allergology/Postȩpy Dermatologii i Alergologii","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5114/pdia.2012.31494","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1

摘要

色素失禁症(Incontinentia pigmenti, IP, Bloch-Sulzberger syndrome)是一种非常罕见的遗传性皮肤病,其特征是典型的皮肤病变,并伴有牙齿、中枢神经系统、骨骼和眼部异常。色素失禁通常在女性中观察到,因为这种x连锁的显性遗传疾病在男性中是致命的。IP的标志性特征是沿Blaschko线皮肤爆发,通常伴有神经系统疾病。除了疾病的临床特征外,皮肤活检是确认诊断的最佳诊断工具。我们提出一个新生儿的情况下,典型的水疱,然后疣性病变影响小腿。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Case report Bloch-Sulzberger syndrome: a case report
Incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) is a very rare genodermatosis characterized by typical skin lesions accompanied by dental, central nervous system, bone and ocular abnormalities. Incontinentia pigmenti is usually observed among women, as this X-linked dominantly inherited disorder is lethal in males. The hallmark fea ture of IP is cutaneous eruption along the lines of Blaschko, usually accompanied by neurological disorders. Apart from clinical features of the disease, skin biopsy is the best diagnostic tool to confirm the diagnosis. We present a case of a newborn with typical vesicular and then verrucous lesions affecting the lower legs.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信