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 - Suppr

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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/6564/12359820/8506b6d4961b/ActaDV-105-43888-g001.jpg

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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

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本文引用的文献

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.

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.

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.

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.

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.

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.

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.

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。

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Australas J Dermatol. 2016 Nov;57(4):307-311. doi: 10.1111/ajd.12342. Epub 2015 Apr 12.

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