• 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

霍普夫迟发性非家族性疣状肢端角化病:一例报告

Late-onset non-familial acrokeratosis verruciformis of Hopf: a case report.

作者信息

Faina V, Magri F, Sernicola A, Chello C, Gagliostro N, Grieco T

机构信息

Department of Dermatology, Policlinico Umberto I, "Sapienza" University of Rome, Italy.

出版信息

Clin Ter. 2019 Nov-Dec;170(6):e418-e420. doi: 10.7417/CT.2019.2168.

DOI:10.7417/CT.2019.2168
PMID:31696902
Abstract

Acrokeratosis verruciformis of Hopf is a rare heritable autosomal dominant genodermatosis and keratinization disorder, first described in 1931 by Hopf. It presents with multiple flat skin colored papules, mainly localized at the dorsal region of the hands and feet. AKV is an allelic disorder, associated with heterozygous missense mutation in ATP2A2 gene, which is involved in Darier's disease. Usually, it arises in early life but rare sporadic cases with adult onset have been reported. We report a case of late-onset non-familial AKV in a 52-year old patient.

摘要

霍普夫疣状肢端角化病是一种罕见的遗传性常染色体显性基因皮肤病和角化障碍,1931年由霍普夫首次描述。其表现为多个扁平的皮肤颜色丘疹,主要位于手足背部。AKV是一种等位基因疾病,与ATP2A2基因的杂合错义突变有关,该基因与 Darier病有关。通常,它在早年发病,但也有罕见的成年发病的散发病例报道。我们报告一例52岁患者的迟发性非家族性AKV病例。

相似文献

1
Late-onset non-familial acrokeratosis verruciformis of Hopf: a case report.霍普夫迟发性非家族性疣状肢端角化病:一例报告
Clin Ter. 2019 Nov-Dec;170(6):e418-e420. doi: 10.7417/CT.2019.2168.
2
Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease.霍普夫疣状肢端角化病由ATP2A2基因突变引起:证明它与达里埃病等位。
J Invest Dermatol. 2003 Feb;120(2):229-32. doi: 10.1046/j.1523-1747.2003.t01-1-12045.x.
3
Genetic heterogeneity in acrokeratosis verruciformis of Hopf.霍普夫疣状肢端角化病的遗传异质性。
Clin Exp Dermatol. 2006 Jul;31(4):558-63. doi: 10.1111/j.1365-2230.2006.02134.x.
4
Acrokeratosis Verruciformis of Hopf: a localized variant.
J Drugs Dermatol. 2004 Nov-Dec;3(6):687-8.
5
A sporadic patient with acrokeratosis verruciformis of Hopf and a novel ATP2A2 mutation.一名散发型霍普夫疣状肢端角化病患者及一种新的ATP2A2突变
Br J Dermatol. 2010 Sep;163(3):653-4. doi: 10.1111/j.1365-2133.2010.09876.x. Epub 2010 May 28.
6
Acrokeratosis verruciformis of Hopf showing P602L mutation in ATP2A2 and overlapping histopathological features with Darier disease.霍普夫疣状肢端角化病显示ATP2A2基因存在P602L突变且组织病理学特征与达里埃病重叠
Am J Dermatopathol. 2012 Aug;34(6):597-601. doi: 10.1097/DAD.0b013e31823f9194.
7
Non-familial Acrokeratosis Verruciformis of Hopf.
Ann Dermatol. 2011 Sep;23 Suppl 1(Suppl 1):S61-3. doi: 10.5021/ad.2011.23.S1.S61. Epub 2011 Sep 30.
8
Late-onset Darier's disease due to a novel missense mutation in the ATP2A2 gene: a different missense mutation affecting the same codon has been previously reported in acrokeratosis verruciformis.ATP2A2基因新错义突变导致的迟发性 Darier 病:先前在疣状肢端角化病中报道过影响相同密码子的不同错义突变。
J Dermatol. 2013 Apr;40(4):280-1. doi: 10.1111/1346-8138.12058. Epub 2013 Jan 5.
9
Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease.复发性ATP2A2 p.(Pro602Leu)突变可将霍普夫疣状肢端角化病与等位基因疾病 Darier病区分开来。
Am J Med Genet A. 2017 Jul;173(7):1975-1978. doi: 10.1002/ajmg.a.38268. Epub 2017 May 12.
10
Acrokeratosis verruciformis.
Dermatol Online J. 2012 Dec 15;18(12):12.

引用本文的文献

1
Acrokeratosis Verruciformis of Hopf: A Series of 3 Cases with Clinical, Histopathological and Dermoscopic Features.霍普夫疣状肢端角化病:3例临床、组织病理学及皮肤镜特征分析
Indian J Dermatol. 2023 Jul-Aug;68(4):489. doi: 10.4103/ijd.ijd_57_23.