诊断遗传性网状色素沉着症患者的算法方法--综述。

IF 3.7 4区 医学 Q1 DERMATOLOGY Clinical and Experimental Dermatology Pub Date : 2024-08-14 DOI:10.1093/ced/llae322
Liza Mohapatra, Kabir Sardana, Maitreyee Panda, Rahul Mahajan
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引用次数: 0

摘要

遗传性网状色素沉着病包括一组以网状色素沉着为主要表现的遗传性疾病。这些遗传性网状色素沉着病中的许多疾病都有多种皮肤表现,且特征相互重叠。此外,其中一些疾病还有全身性表现。这些重叠的特征往往会给诊断带来困惑和延误。根据文献检索,我们提出了一种简明易懂的诊断算法。这将有助于进行明确的基因检测。我们在 PubMed 数据库中使用以下关键词进行了全面的数据搜索。其中包括"'遗传*'或'基因'"和 "网状和色素*""。随后,使用关键词 "Dowling-Degos 病"、"遗传性对称性色素沉着病"、"北村色素沉着病"、"遗传性普遍色素沉着病"、"Naegeli-Franceschetti-Jadasssohn 综合征"、"X 连锁网状色素沉着病 "和 "先天性色素沉着病 "进行了个别疾病搜索。检索包括病例报告、系列研究、观察性研究、叙事性和系统性综述以及临床试验。后天性色素沉着病被排除在外。共检索到 1994 篇文章。最后,625 篇文章被纳入综述。这些文章包括叙事性综述文章(40 篇)、病例系列(23 篇)、观察性研究(44 篇)和病例报告(518 篇)。根据发病年龄、分布情况和其他参数制定易于遵循的临床诊断算法,无疑有助于得出临时诊断结果。此外,这种方法还有助于对遗传性网状色素沉着症病例进行遗传学检查。
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An Algorithmic Approach Towards Diagnosis of Patients with Hereditary Reticulate Pigmentary Disorders- A narrative review.

Hereditary reticulate pigmentary disorders include a group of genetic disorders with net-like pigmentation as their predominant presentation. Many of these hereditary reticulate pigmentary disorders have a wide array of cutaneous presentations with overlapping features. Furthermore, some of these disorders also have systemic manifestations. The overlapping features often add confusion and cause delay in the diagnosis. Based on the literature search, we propose an easy-to-follow concise diagnostic algorithm for the same. This would aid in ordering a definite genetic test. A thorough data search was done using data base PubMed using the following keywords. It included "'inherit*' OR 'genetic'" AND "reticulate AND pigment*"'. Thereafter, an individual disease search was done using keywords 'Dowling-Degos disease', 'Dyschromatosis Hereditaria Symmetrica', 'Acropigmentation of Kitamura', 'Dyschromatosis Universalis Hereditaria', 'Naegeli-Franceschetti-Jadasssohn syndrome', 'X-linked reticulate pigmentary disorder' and 'Dyskeratosis congenita'. The search included case reports, series, observational studies, narrative and systematic reviews, clinical trials. Acquired pigmentary disorders were excluded. A total of 1994 articles were retrieved. Finally, 625 articles were included for the review. The articles were narrative review articles (40), case series (23), observational studies (44), and case reports (518). An easy-to-follow clinical diagnostic algorithm based on age of onset, distribution, and other parameters would definitely aid in reaching a provisional diagnosis. And further this approach will help in the genetic workup of a case of hereditary reticulate pigmentary disorder.

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来源期刊
CiteScore
3.20
自引率
2.40%
发文量
389
审稿时长
3-8 weeks
期刊介绍: Clinical and Experimental Dermatology (CED) is a unique provider of relevant and educational material for practising clinicians and dermatological researchers. We support continuing professional development (CPD) of dermatology specialists to advance the understanding, management and treatment of skin disease in order to improve patient outcomes.
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