• 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

Expanding the spectrum of epidermolysis bullosa simplex: Syndromic epidermolysis bullosa simplex with nephropathy and epilepsy secondary to CD151 tetraspanin defect-a case report and review of the literature.

作者信息

Dunn Charles, Ambur Austin, Foss Michael, Nathoo Rajiv

机构信息

Department of Dermatology, Kansas City University/Graduate Medical Education Consortium-Advanced Dermatology and Cosmetic Surgery, Maitland, Florida.

出版信息

JAAD Case Rep. 2022 Apr 1;23:136-140. doi: 10.1016/j.jdcr.2022.03.012. eCollection 2022 May.

DOI:10.1016/j.jdcr.2022.03.012
PMID:35519797
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9061251/
Abstract
摘要

相似文献

1
Expanding the spectrum of epidermolysis bullosa simplex: Syndromic epidermolysis bullosa simplex with nephropathy and epilepsy secondary to CD151 tetraspanin defect-a case report and review of the literature.扩大单纯性大疱性表皮松解症的范围：伴肾病和癫痫的综合征性单纯性大疱性表皮松解症继发于CD151四跨膜蛋白缺陷——病例报告及文献复习
JAAD Case Rep. 2022 Apr 1;23:136-140. doi: 10.1016/j.jdcr.2022.03.012. eCollection 2022 May.
2
Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.CD151 四跨膜蛋白的隐性突变导致类 Kindler 综合征型大疱性表皮松解症，伴有包括肾病在内的多系统表现。
Matrix Biol. 2018 Mar;66:22-33. doi: 10.1016/j.matbio.2017.11.003. Epub 2017 Nov 11.
3
Nephrotic syndrome: Pretibial epidermolysis bullosa in a patient with tetraspanin defect: A case report.肾病综合征：一名患有四跨膜蛋白缺陷患者的胫前大疱性表皮松解症：病例报告
Int J Health Sci (Qassim). 2024 Jan-Feb;18(1):35-40.
4
Management of epidermolysis bullosa simplex in pregnancy: A case report.妊娠期单纯性大疱性表皮松解症的管理：一例报告。
Case Rep Womens Health. 2019 Sep 5;24:e00140. doi: 10.1016/j.crwh.2019.e00140. eCollection 2019 Oct.
5
Extensive acantholysis as the major histological feature of a severe case of Dowling Meara-epidermolysis bullosa simplex: a reappraisal of acantholysis in the newborn.广泛棘层松解是重型 Dowling-Meara-表皮松解症的主要组织学特征：对新生儿棘层松解的再评价。
Eur J Dermatol. 2011 Nov-Dec;21(6):966-71. doi: 10.1684/ejd.2011.1497.
6
Oral Manifestations and Dental Management of Epidermolysis Bullosa Simplex.单纯性大疱性表皮松解症的口腔表现及牙科处理
Int J Clin Pediatr Dent. 2015 Sep-Dec;8(3):239-41. doi: 10.5005/jp-journals-10005-1321. Epub 2015 Sep 11.
7
A homozygous frameshift variant in the gene is compatible with life and results in severe recessive epidermolysis bullosa simplex.该基因中的纯合移码变异与生命相容，并导致严重的隐性单纯性大疱性表皮松解症。
JAAD Case Rep. 2019 Jun 26;5(7):576-579. doi: 10.1016/j.jdcr.2019.03.025. eCollection 2019 Jul.
8
Assessment of the Timing of Milestone Clinical Events in Patients With Epidermolysis Bullosa From North America.评估北美的大疱性表皮松解症患者里程碑临床事件的发生时间。
JAMA Dermatol. 2019 Feb 1;155(2):196-203. doi: 10.1001/jamadermatol.2018.4673.
9
Syndromic epidermolysis bullosa simplex subtype due to mutations in the gene: series of case reports in Russian families.由于该基因发生突变导致的综合征型单纯性大疱性表皮松解症亚型：俄罗斯家族中的系列病例报告
Front Med (Lausanne). 2024 Jul 29;11:1418239. doi: 10.3389/fmed.2024.1418239. eCollection 2024.
10
Laryngeal lesion associated with epidermolysis bullosa secondary to congenital plectin deficiency.先天性束蛋白缺陷导致的大疱性表皮松解症相关的喉病变。
Eur Ann Otorhinolaryngol Head Neck Dis. 2019 Jun;136(3):203-205. doi: 10.1016/j.anorl.2019.02.009. Epub 2019 Mar 15.

引用本文的文献

1
Identification of Pathogenic Pathways for Recurrence of Focal Segmental Glomerulosclerosis after Kidney Transplantation.肾移植后局灶节段性肾小球硬化复发的致病途径鉴定
Diagnostics (Basel). 2024 Jul 24;14(15):1591. doi: 10.3390/diagnostics14151591.
2
Nephrotic syndrome: Pretibial epidermolysis bullosa in a patient with tetraspanin defect: A case report.肾病综合征：一名患有四跨膜蛋白缺陷患者的胫前大疱性表皮松解症：病例报告
Int J Health Sci (Qassim). 2024 Jan-Feb;18(1):35-40.

本文引用的文献

1
Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.遗传性大疱性表皮松解症及其他皮肤脆性疾病的共识性重新分类
Br J Dermatol. 2020 Oct;183(4):614-627. doi: 10.1111/bjd.18921. Epub 2020 Mar 11.
2
Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa.大疱性表皮松解症实验室诊断临床实践指南。
Br J Dermatol. 2020 Mar;182(3):574-592. doi: 10.1111/bjd.18128. Epub 2019 Aug 9.
3
Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic versus Non-Syndromic Skin Fragility Disorders.
大疱性表皮松解症的表型谱：综合征性与非综合征性皮肤脆弱性疾病的范例。
J Invest Dermatol. 2019 Mar;139(3):522-527. doi: 10.1016/j.jid.2018.10.017. Epub 2018 Oct 28.
4
Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone.大疱性表皮松解症：皮肤基底膜带结缔组织成分的分子病理学。
Matrix Biol. 2018 Oct;71-72:313-329. doi: 10.1016/j.matbio.2018.04.001. Epub 2018 Apr 5.
5
Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.CD151 四跨膜蛋白的隐性突变导致类 Kindler 综合征型大疱性表皮松解症，伴有包括肾病在内的多系统表现。
Matrix Biol. 2018 Mar;66:22-33. doi: 10.1016/j.matbio.2017.11.003. Epub 2017 Nov 11.
6
Progress toward Treatment and Cure of Epidermolysis Bullosa: Summary of the DEBRA International Research Symposium EB2015.大疱性表皮松解症治疗与治愈方面的进展：国际大疱性表皮松解症研究协会（DEBRA）2015年表皮松解症研讨会总结
J Invest Dermatol. 2016 Feb;136(2):352-358. doi: 10.1016/j.jid.2015.10.050.
7
CD151: Basis Sequence: Mouse.CD151：基础序列：小鼠。
AFCS Nat Mol Pages. 2011;2011. doi: 10.1038/mp.a004123.01.
8
Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.遗传性大疱性表皮松解症：诊断和分类的更新建议。
J Am Acad Dermatol. 2014 Jun;70(6):1103-26. doi: 10.1016/j.jaad.2014.01.903. Epub 2014 Mar 29.
9
Cystic fibrosis transmembrane conductance regulator is involved in airway epithelial wound repair.囊性纤维化跨膜电导调节因子参与气道上皮细胞的伤口修复。
Am J Physiol Cell Physiol. 2010 Nov;299(5):C912-21. doi: 10.1152/ajpcell.00215.2010. Epub 2010 Aug 4.
10
CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin.CD151是在红细胞上检测到的四跨膜蛋白（TM4）超家族的首个成员，对肾脏和皮肤中人类基底膜的正确组装至关重要。
Blood. 2004 Oct 15;104(8):2217-23. doi: 10.1182/blood-2004-04-1512. Epub 2004 Jul 20.