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遗传性网状色素沉着性疾病患者的诊断算法方法:一项叙述性综述

An algorithmic approach towards diagnosis of patients with hereditary reticulate pigmentary disorders: a narrative review.

作者信息

Mohapatra Liza, Sardana Kabir, Panda Maitreyee, Mahajan Rahul

机构信息

Department of Dermatology, Venereology and Leprology, Institute of Medical Sciences and SUM Hospital, Bhubaneswar, Odisha, India.

Department of Dermatology, Dr Ram Manohar Lohia Hospital, New Delhi, India.

出版信息

Clin Exp Dermatol. 2024 Dec 23;50(1):12-20. doi: 10.1093/ced/llae322.

Abstract

Hereditary reticulate pigmentary disorders include a group of genetic disorders, with netlike 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 diagnosis. Based on a literature search, we propose an easy-to-follow and concise diagnostic algorithm for diagnosis. This algorithm would aid in ordering a definitive genetic test. A thorough data search was done using the PubMed database with the following keywords: ('inherit*' OR 'genetic') AND ('reticulate AND pigment*'). Thereafter, a search for individual diseases was done using the keywords 'Dowling-Degos disease', 'dyschromatosis hereditaria symmetrica', 'acropigmentation of Kitamura', 'dyschromatosis universalis hereditaria', 'Naegeli-Franceschetti-Jadassohn syndrome', 'X-linked reticulate pigmentary disorder' and 'dyskeratosis congenita'. The search included case reports, case series, observational studies, narrative and systematic reviews, and clinical trials. Acquired pigmentary disorders were excluded. In total, 1994 articles were retrieved. Finally, 625 articles were included for the review. The articles were narrative reviews (40), case series (23), observational studies (44) and case reports (518). An easy-to-follow clinical diagnostic algorithm was prepared based on age of onset, distribution and other parameters. This algorithm will aid in reaching a provisional diagnosis. Furthermore, this approach will help in the genetic investigations of a case of hereditary reticulate pigmentary disorder.

摘要

遗传性网状色素沉着障碍包括一组遗传性疾病,其主要表现为网状色素沉着。这些遗传性网状色素沉着障碍中的许多都有广泛的皮肤表现,且特征相互重叠。此外,其中一些疾病还具有全身表现。这些重叠的特征常常增加诊断的难度并导致诊断延迟。基于文献检索,我们提出了一种易于遵循且简洁的诊断算法用于诊断。该算法将有助于安排确定性的基因检测。我们使用PubMed数据库,通过以下关键词进行了全面的数据搜索:(“遗传*”或“基因的”)以及(“网状且色素*”)。此后,我们使用关键词“Dowling-Degos病”、“对称性遗传性色素沉着异常”、“北村肢端色素沉着症”、“泛发性遗传性色素沉着异常”、“内格利-弗朗切斯科蒂-雅达松综合征”、“X连锁网状色素沉着障碍”和“先天性角化不良”对个别疾病进行了搜索。搜索内容包括病例报告、病例系列、观察性研究、叙述性和系统性综述以及临床试验。排除了获得性色素沉着障碍。总共检索到1994篇文章。最后,纳入625篇文章进行综述。这些文章包括叙述性综述(40篇)、病例系列(23篇)、观察性研究(44篇)和病例报告(518篇)。我们根据发病年龄、分布和其他参数制定了一种易于遵循的临床诊断算法。该算法将有助于做出初步诊断。此外,这种方法将有助于对遗传性网状色素沉着障碍病例进行基因研究。

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