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

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-08-05 eCollection Date: 2024-01-01 DOI:10.2147/CCID.S473076

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

引用次数: 0

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.

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在一种罕见的角化病临床变异中发现的 MVD 变异：一名中国患者的播散性浅表角化病（DSP）病例报告。

角化病包括多种遗传性和获得性疾病，其特征是角朊细胞克隆性过度增殖。这些疾病的临床表现多种多样，但在组织学上因存在粟粒状薄层而统一。在本研究中，我们报告了一种临床表现不寻常的罕见角化病变异型，即播散性表浅角化病，其中发现了甲羟戊酸脱羧酶（MVD）基因的突变。这一发现有助于人们进一步了解这种复杂皮肤病的遗传基础，并可能对诊断和治疗产生影响。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.