• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

Howel-Evans syndrome: a variant of ectodermal dysplasia.

作者信息

Sroa Novie, Witman Patricia

机构信息

The Ohio State University, Division of Dermatology, Columbus 43221, USA.

出版信息

Cutis. 2010 Apr;85(4):183-5.

PMID:20486456
Abstract

Howel-Evans syndrome is a rare form of palmoplantar keratoderma associated with esophageal cancer and is inherited in an autosomal dominant fashion. First described in 2 kindreds in the United Kingdom, Howel-Evans syndrome has subsequently been reported in only one American family. We present a previously unreported case of Howel-Evans syndrome from this American kindred demonstrating a distinct clinical phenotype. The patient manifests both cutaneous and ectodermal abnormalities, supporting the reclassification of Howel-Evans syndrome as a variant of ectodermal dysplasia.

摘要

相似文献

1
Howel-Evans syndrome: a variant of ectodermal dysplasia.
Cutis. 2010 Apr;85(4):183-5.
2
[Clarke-Howel Evans' syndrome].[克拉克-豪厄尔·埃文斯综合征]
Actas Dermosifiliogr. 1977 Mar-Apr;68(3-4):127-38.
3
Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas.一个患有掌跖角化病和恶性肿瘤(III型掌跖外胚层发育不良)的美国家系与17q24的连锁关系。文献综述及对角化病的拟更新分类。
Arch Dermatol. 1996 Jun;132(6):640-51.
4
[The Clark-Howel-Evans-McConnell syndrome. Observations in one family over 5 generations].[克拉克 - 豪厄尔 - 埃文斯 - 麦康奈尔综合征。对一个家族五代人的观察]
Hautarzt. 1997 Nov;48(11):800-5. doi: 10.1007/s001050050663.
5
A survey study with assessment of esophageal screening and genetic counseling in patients with Howel-Evans syndrome.
Dermatol Online J. 2018 Jun 15;24(6):13030/qt1c03j65k.
6
Variant of odontoonychodermal dysplasia?牙甲皮发育异常的变异型?
Am J Med Genet. 1995 Nov 6;59(2):242-4. doi: 10.1002/ajmg.1320590224.
7
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum.两个家庭证实了舍普夫-舒尔茨-帕萨热综合征是WNT10A表型谱中的一个独立实体。
Clin Genet. 2011 Jan;79(1):92-5. doi: 10.1111/j.1399-0004.2010.01513.x.
8
[Focal palmoplantar and oral mucosa hyperkeratosis syndrome].[局限性掌跖及口腔黏膜角化过度综合征]
Mund Kiefer Gesichtschir. 2001 May;5(3):202-5. doi: 10.1007/s100060100306.
9
Anhidrotic ectodermal dysplasia with palmoplantar keratoderma: an unusual presentation.伴掌跖角化病的无汗性外胚层发育不良:一种不寻常的表现。
Int J Dermatol. 2007 Jun;46(6):631-3. doi: 10.1111/j.1365-4632.2007.02432.x.
10
Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A.Schöpf-Schulz-Passarge 综合征源于 WNT10A 基因上的纯合无义突变,p.Cys107X。
Australas J Dermatol. 2011 Aug;52(3):224-6. doi: 10.1111/j.1440-0960.2011.00788.x. Epub 2011 Jun 29.

引用本文的文献

1
Acrokeratosis Can Be a Warning Sign of an Underlying Malignancy.肢端角化症可能是潜在恶性肿瘤的一个警示信号。
Eur J Case Rep Intern Med. 2019 May 10;6(5):001108. doi: 10.12890/2019_001108. eCollection 2019.