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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

MVD Variants Identified in a Rare Clinical Variant of Porokeratosis: A Case Report of Disseminated Superficial Porokeratosis (DSP) in a Chinese Patient.

作者信息

Yu Tao, Yin Yue, Shu Chang, Yuan Cheng-da

机构信息

Department of Dermatology, Hangzhou TCM Hospital Affiliated to Zhejiang Chinese Medical University, Hangzhou, Zhejiang, People's Republic of China.

Department of Pathology, Hangzhou TCM Hospital Affiliated to Zhejiang Chinese Medical University, Hangzhou, Zhejiang, People's Republic of China.

出版信息

Clin Cosmet Investig Dermatol. 2024 Aug 5;17:1783-1787. doi: 10.2147/CCID.S473076. eCollection 2024.

DOI:10.2147/CCID.S473076
PMID:39132030
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11313490/
Abstract

Porokeratosis comprises a diverse range of both hereditary and acquired disorders characterized by clonal hyperproliferation of keratinocytes. These disorders manifest with a variety of clinical presentations but are histologically unified by the presence of the cornoid lamella. In this study, we report an unusual presentation of a rare clinical variant of porokeratosis, namely disseminated superficial porokeratosis, in which mutations in the Mevalonate decarboxylase (MVD) gene have been identified. This finding contributes to the growing understanding of the genetic underpinnings of this complex dermatological condition and may have implications for diagnosis and treatment.

摘要

汗孔角化症包括一系列遗传性和后天性疾病，其特征为角质形成细胞的克隆性过度增殖。这些疾病有多种临床表现，但在组织学上都有鸡眼样板存在。在本研究中，我们报告了汗孔角化症一种罕见临床变体的不寻常表现，即播散性浅表性汗孔角化症，其中已鉴定出甲羟戊酸脱羧酶（MVD）基因突变。这一发现有助于加深对这种复杂皮肤病学病症遗传基础的理解，并可能对诊断和治疗产生影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3625/11313490/96af5d5fbdb5/CCID-17-1783-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3625/11313490/74ce263fa94a/CCID-17-1783-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3625/11313490/ea90a14b849e/CCID-17-1783-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3625/11313490/96af5d5fbdb5/CCID-17-1783-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3625/11313490/74ce263fa94a/CCID-17-1783-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3625/11313490/ea90a14b849e/CCID-17-1783-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3625/11313490/96af5d5fbdb5/CCID-17-1783-g0003.jpg

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本文引用的文献

1
A Novel PMVK Variant Associated with Familial Porokeratosis.一种与家族性角化不良瘤相关的新型 PMVK 变异体。
Hum Hered. 2023;88(1):50-57. doi: 10.1159/000531120. Epub 2023 Jun 14.
2
A preliminary study of peripheral T-cell subsets in porokeratosis patients with or variants.伴有或不伴有变异的汗孔角化症患者外周血T细胞亚群的初步研究。
Skin Health Dis. 2021 Dec 16;2(1):e82. doi: 10.1002/ski2.82. eCollection 2022 Mar.
3
Porokeratosis: An enigma beginning to unravel.角化不良症：谜团正在被揭开。
Indian J Dermatol Venereol Leprol. 2022 May-Jun;88(3):291-299. doi: 10.25259/IJDVL_806_20.
4
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.
5
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.
6
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.
7
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.
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
[Analysis of clinical and genetic features of nine patients with disseminated superfacial actinic porokeratosis].[9例播散性浅表性光化性汗孔角化症患者的临床及遗传学特征分析]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Aug 10;34(4):481-485. doi: 10.3760/cma.j.issn.1003-9406.2017.04.003.
10
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.