• 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

Two Cases of Porokeratosis with MVD Mutations, in Association with Bullous Pemphigoid.

作者信息

Arisawa Yuki, Ito Yasutoshi, Tanahashi Kana, Muro Yoshinao, Ogi Tomoo, Takeichi Takuya, Akiyama Masashi

机构信息

Department of Dermatology, Nagoya University Graduate School of Medicine, 466-8550 Nagoya, Japan.

出版信息

Acta Derm Venereol. 2021 Mar 31;101(3):adv00423. doi: 10.2340/00015555-3764.

DOI:10.2340/00015555-3764
PMID:33554266
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9366709/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b862/9366709/8d728ade178e/ActaDV-101-3-974-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b862/9366709/8d728ade178e/ActaDV-101-3-974-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b862/9366709/8d728ade178e/ActaDV-101-3-974-g001.jpg

相似文献

1
Two Cases of Porokeratosis with MVD Mutations, in Association with Bullous Pemphigoid.两例伴有MVD突变的汗孔角化症，与大疱性类天疱疮相关。
Acta Derm Venereol. 2021 Mar 31;101(3):adv00423. doi: 10.2340/00015555-3764.
2
Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy.局部应用胆固醇/洛伐他汀治疗掌跖角化病：一种针对发病机制的治疗方法。
J Am Acad Dermatol. 2020 Jan;82(1):123-131. doi: 10.1016/j.jaad.2019.08.043. Epub 2019 Aug 23.
3
Genomic variations of the mevalonate pathway in porokeratosis.汗孔角化症中甲羟戊酸途径的基因组变异
Elife. 2015 Jul 23;4:e06322. doi: 10.7554/eLife.06322.
4
Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes.在 MVD 或 MVK 突变杂合子中，具有体细胞重组或 C>T 转换的二次打击细胞的克隆扩增形成汗孔角化病。
J Invest Dermatol. 2019 Dec;139(12):2458-2466.e9. doi: 10.1016/j.jid.2019.05.020. Epub 2019 Jun 15.
5
Rare case of bullous pemphigoid occurring on atrophic centers of disseminated superficial porokeratosis lesions.
J Dermatol. 2021 Nov;48(11):e530-e531. doi: 10.1111/1346-8138.16083. Epub 2021 Aug 18.
6
Establishment of a Mouse Model for Porokeratosis Due to Mevalonate Diphosphate Decarboxylase Deficiency.建立 Mevalonate Diphosphate Decarboxylase 缺陷导致的掌跖角化病小鼠模型。
Skin Res Technol. 2024 Sep;30(9):e70076. doi: 10.1111/srt.70076.
7
Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin.由MVD基因先天性致病变异及受累皮肤杂合性缺失引起的跖部、掌部播散性汗孔角化症
Acta Derm Venereol. 2021 Feb 16;101(2):adv00397. doi: 10.2340/00015555-3753.
8
Mutations in mevalonate pathway genes in patients with familial or sporadic porokeratosis.家族性或散发性汗孔角化症患者的甲羟戊酸途径基因突变。
J Dermatol. 2018 Jul;45(7):862-866. doi: 10.1111/1346-8138.14343. Epub 2018 May 3.
9
Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis.中国汗孔角化症患者甲羟戊酸途径基因的突变
J Eur Acad Dermatol Venereol. 2016 Sep;30(9):1512-7. doi: 10.1111/jdv.13653. Epub 2016 Jul 16.
10
Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis.线性角化不良症中的二次打击、合子后 PMVK 和 MVD 突变。
JAMA Dermatol. 2019 May 1;155(5):548-555. doi: 10.1001/jamadermatol.2019.0016.

引用本文的文献

1
Tense Bullous Eruptions Arising in Porokeratosis: A Quiz.汗孔角化症中出现的紧张性大疱性皮疹：一个病例问答
Acta Derm Venereol. 2025 Jul 11;105:adv43898. doi: 10.2340/actadv.v105.43898.
2
MVD Variants Identified in a Rare Clinical Variant of Porokeratosis: A Case Report of Disseminated Superficial Porokeratosis (DSP) in a Chinese Patient.在汗孔角化症罕见临床变异型中鉴定出的微血管密度（MVD）变异：一名中国患者播散性浅表性汗孔角化症（DSP）的病例报告
Clin Cosmet Investig Dermatol. 2024 Aug 5;17:1783-1787. doi: 10.2147/CCID.S473076. eCollection 2024.
3
Two Novel and Three Recurrent Mutations in the Mevalonate Pathway Genes in Chinese Patients with Porokeratosis.

本文引用的文献

1
Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy.局部应用胆固醇/洛伐他汀治疗掌跖角化病：一种针对发病机制的治疗方法。
J Am Acad Dermatol. 2020 Jan;82(1):123-131. doi: 10.1016/j.jaad.2019.08.043. Epub 2019 Aug 23.
2
A patient with bullous pemphigoid with mucosal involvement serologically positive for anti-BP230 autoantibodies only.一名仅血清学抗BP230自身抗体呈阳性的大疱性类天疱疮伴黏膜受累患者。
Br J Dermatol. 2020 Jan;182(1):221-223. doi: 10.1111/bjd.18343. Epub 2019 Sep 1.
3
Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes.
中国汗孔角化症患者甲羟戊酸途径基因中的两个新突变和三个复发突变
Clin Cosmet Investig Dermatol. 2024 Jan 24;17:191-197. doi: 10.2147/CCID.S444985. eCollection 2024.
在 MVD 或 MVK 突变杂合子中，具有体细胞重组或 C>T 转换的二次打击细胞的克隆扩增形成汗孔角化病。
J Invest Dermatol. 2019 Dec;139(12):2458-2466.e9. doi: 10.1016/j.jid.2019.05.020. Epub 2019 Jun 15.
4
Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis.线性角化不良症中的二次打击、合子后 PMVK 和 MVD 突变。
JAMA Dermatol. 2019 May 1;155(5):548-555. doi: 10.1001/jamadermatol.2019.0016.
5
Familial or sporadic porokeratosis as an autoinflammatory keratinization disease.家族性或散发性汗孔角化症作为一种自身炎症性角化病。
J Dermatol. 2019 Apr;46(4):e125-e126. doi: 10.1111/1346-8138.14666. Epub 2018 Sep 28.
6
Mutations in mevalonate pathway genes in patients with familial or sporadic porokeratosis.家族性或散发性汗孔角化症患者的甲羟戊酸途径基因突变。
J Dermatol. 2018 Jul;45(7):862-866. doi: 10.1111/1346-8138.14343. Epub 2018 May 3.
7
HGVS Recommendations for the Description of Sequence Variants: 2016 Update.《人类基因组变异协会（HGVS）序列变异描述建议：2016年更新》
Hum Mutat. 2016 Jun;37(6):564-9. doi: 10.1002/humu.22981. Epub 2016 Mar 25.
8
Correction: Genomic variations of the mevalonate pathway in porokeratosis.更正：汗孔角化症中甲羟戊酸途径的基因组变异。
Elife. 2016 Jan 27;5:e14383. doi: 10.7554/eLife.14383.
9
Development of segmental superficial actinic porokeratosis during immunosuppressive therapy for pemphigus vulgaris.寻常型天疱疮免疫抑制治疗期间节段性浅表光化性汗孔角化症的发生
Acta Derm Venereol. 2010 Mar;90(2):212-3. doi: 10.2340/00015555-0800.
10
Porokeratosis of Mibelli. Overview and review of the literature.
Acta Derm Venereol. 1997 May;77(3):207-13. doi: 10.2340/0001555577207213.