• 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

Familial Amyloidosis Cutis Dyschromica with GPNMB mutation: A Case Report and Literature Review.

作者信息

Untaaveesup Suvijak, Borriboon Tanaporn, Supsrisunjai Chavalit

机构信息

Chao Khun Paiboon Hospital, Kanchanaburi, 71140, Thailand.

Institute of Dermatology, Ministry of Public Health, Bangkok, Thailand.

出版信息

Acta Derm Venereol. 2025 Aug 12;105:adv43888. doi: 10.2340/actadv.v105.43888.

DOI:10.2340/actadv.v105.43888
PMID:40792575
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12359820/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6564/12359820/92af1e54c886/ActaDV-105-43888-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6564/12359820/8506b6d4961b/ActaDV-105-43888-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6564/12359820/92af1e54c886/ActaDV-105-43888-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6564/12359820/8506b6d4961b/ActaDV-105-43888-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6564/12359820/92af1e54c886/ActaDV-105-43888-g002.jpg

相似文献

1
Familial Amyloidosis Cutis Dyschromica with GPNMB mutation: A Case Report and Literature Review.伴有GPNMB突变的家族性皮肤异色性淀粉样变性:一例报告及文献复习
Acta Derm Venereol. 2025 Aug 12;105:adv43888. doi: 10.2340/actadv.v105.43888.
2
Amyloidosis cutis dyschromica cases caused by GPNMB mutations with different inheritance patterns.色素异常性皮肤淀粉样变性病由 GPNMB 突变引起,具有不同的遗传模式。
J Dermatol Sci. 2021 Oct;104(1):48-54. doi: 10.1016/j.jdermsci.2021.08.002. Epub 2021 Aug 10.
3
Association of amyloidosis cutis dyschromica and familial Mediterranean fever.皮肤异色性淀粉样变与家族性地中海热的关联。
An Bras Dermatol. 2017;92(5 Suppl 1):21-23. doi: 10.1590/abd1806-4841.20176114.
4
Two missense mutations in GPNMB cause autosomal recessive amyloidosis cutis dyschromica in the consanguineous pakistani families.两个 GPNMB 错义突变导致巴基斯坦近亲家族常染色体隐性遗传性皮肤异色性淀粉样变性。
Genes Genomics. 2021 May;43(5):471-478. doi: 10.1007/s13258-021-01071-6. Epub 2021 Mar 9.
5
Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans.GPNMB 缺失导致人类常染色体隐性遗传性皮肤异色性淀粉样变性。
Am J Hum Genet. 2018 Feb 1;102(2):219-232. doi: 10.1016/j.ajhg.2017.12.012. Epub 2018 Jan 11.
6
[Amyloidosis cutis dyschromica due to homozygous variants of the GPNMB gene in a Chinese pedigree].[中国家系中因GPNMB基因纯合变异导致的皮肤异色性淀粉样变]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Feb 10;38(2):123-126. doi: 10.3760/cma.j.cn511374-20200210-00063.
7
A homozygous Y131X GPNMB mutation in a Chinese family with amyloidosis cutis dyschromica.一个患有皮肤异色性淀粉样变的中国家庭中的纯合Y131X GPNMB突变。
Int J Dermatol. 2022 Apr;61(4):e118-e120. doi: 10.1111/ijd.15947. Epub 2021 Oct 10.
8
Familial amyloidosis cutis dyschromica: a case report.家族性皮肤异色性淀粉样变性:一例报告。
Acta Med Iran. 2014;52(2):163-5.
9
Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica.皮肤异色性淀粉样变中的半显性GPNMB突变
J Invest Dermatol. 2019 Dec;139(12):2550-2554.e9. doi: 10.1016/j.jid.2019.05.021. Epub 2019 Jun 19.
10
[Autosomal-recessive amylosis cutis dyschromica and GPNMB mutations].[常染色体隐性遗传性皮肤异色性淀粉样变与GPNMB突变]
Ann Dermatol Venereol. 2018 Oct;145(10):641-642. doi: 10.1016/j.annder.2018.07.001. Epub 2018 Aug 8.

本文引用的文献

1
34βE12 is the Most Reliable Marker for Keratin-Derived Cutaneous Amyloid: A Comparative Study.34βE12是角蛋白源性皮肤淀粉样变最可靠的标志物:一项比较研究。
Am J Dermatopathol. 2025 Jun 1;47(6):439-441. doi: 10.1097/DAD.0000000000002942. Epub 2025 Feb 19.
2
Dyschromatosis universalis hereditaria.遗传性全身色素异常症。
Int J Dermatol. 2023 Oct;62(10):1218-1227. doi: 10.1111/ijd.16817. Epub 2023 Aug 27.
3
Case Report: Amyloidosis Cutis Dyschromica: Dermoscopy and Reflectance Confocal Microscopy and Gene Mutation Analysis of a Chinese Pedigree.
病例报告:皮肤异色性淀粉样变:中国家系的皮肤镜、反射式共聚焦显微镜检查及基因突变分析
Front Med (Lausanne). 2021 Dec 1;8:774266. doi: 10.3389/fmed.2021.774266. eCollection 2021.
4
Amyloidosis cutis dyschromica cases caused by GPNMB mutations with different inheritance patterns.色素异常性皮肤淀粉样变性病由 GPNMB 突变引起,具有不同的遗传模式。
J Dermatol Sci. 2021 Oct;104(1):48-54. doi: 10.1016/j.jdermsci.2021.08.002. Epub 2021 Aug 10.
5
Primary Localized Cutaneous Nodular Amyloidosis and Limited Cutaneous Systemic Sclerosis: Additional Cases with Dermatoscopic and Histopathological Correlation of Amyloid Deposition.原发性局限性皮肤结节性淀粉样变与局限性皮肤系统性硬化症:更多伴有淀粉样沉积的皮肤镜和组织病理学相关性病例
Dermatopathology (Basel). 2021 Jul 2;8(3):229-235. doi: 10.3390/dermatopathology8030028.
6
Primary Localized Cutaneous Amyloidosis of Keratinocyte Origin: An Update with Emphasis on Atypical Clinical Variants.角质形成细胞源性原发性局限性皮肤淀粉样变:以非典型临床变异为重点的最新进展
Am J Clin Dermatol. 2021 Sep;22(5):667-680. doi: 10.1007/s40257-021-00620-9. Epub 2021 Jul 21.
7
Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica.皮肤异色性淀粉样变中的半显性GPNMB突变
J Invest Dermatol. 2019 Dec;139(12):2550-2554.e9. doi: 10.1016/j.jid.2019.05.021. Epub 2019 Jun 19.
8
Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans.GPNMB 缺失导致人类常染色体隐性遗传性皮肤异色性淀粉样变性。
Am J Hum Genet. 2018 Feb 1;102(2):219-232. doi: 10.1016/j.ajhg.2017.12.012. Epub 2018 Jan 11.
9
Xeroderma Pigmentosum.着色性干皮病
Head Neck Pathol. 2016 Jun;10(2):139-44. doi: 10.1007/s12105-016-0707-8. Epub 2016 Mar 14.
10
Amyloidosis cutis dyschromica in two siblings and review of the epidemiology, clinical features and management in 48 cases.两例同胞患皮肤异色性淀粉样变病及48例病例的流行病学、临床特征与治疗回顾
Australas J Dermatol. 2016 Nov;57(4):307-311. doi: 10.1111/ajd.12342. Epub 2015 Apr 12.