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。

IF 1.9 4区医学 Q3 DERMATOLOGY

Clinical, Cosmetic and Investigational Dermatology Pub Date : 2024-08-05 eCollection Date: 2024-01-01 DOI:10.2147/CCID.S473076

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

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引用次数: 0

摘要

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。

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

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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来源期刊

Clinical, Cosmetic and Investigational Dermatology Medicine-Dermatology

CiteScore

2.80

自引率

4.30%

发文量

353

审稿时长

16 weeks

期刊介绍： Clinical, Cosmetic and Investigational Dermatology is an international, peer-reviewed, open access journal that focuses on the latest clinical and experimental research in all aspects of skin disease and cosmetic interventions. Normal and pathological processes in skin development and aging, their modification and treatment, as well as basic research into histology of dermal and dermal structures that provide clinical insights and potential treatment options are key topics for the journal. Patient satisfaction, preference, quality of life, compliance, persistence and their role in developing new management options to optimize outcomes for target conditions constitute major areas of interest. The journal is characterized by the rapid reporting of clinical studies, reviews and original research in skin research and skin care. All areas of dermatology will be covered; contributions will be welcomed from all clinicians and basic science researchers globally.