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遗传性肢端网状色素沉着症的临床与遗传学综述

Clinical and Genetic Review of Hereditary Acral Reticulate Pigmentary Disorders.

作者信息

Alshaikh H, Alsaif F, Aldukhi S

机构信息

Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

出版信息

Dermatol Res Pract. 2017;2017:3518568. doi: 10.1155/2017/3518568. Epub 2017 Oct 23.

Abstract

Reticulated pigmentation is a unique pigmentary change caused by a heterogeneous group of hereditary and acquired disorders. This pigmentation is characterized by a mottled appearance, with lesions that vary in size and pigmentary content. This review discusses the hereditary group of the reticulated pigmentation disorders, such as dyschromatosis symmetrica hereditaria, dyschromatosis universalis hereditaria, and reticulate acropigmentation of Kitamura. The clinical presentation and histopathological features often overlap, making diagnosis difficult. However, each of these hereditary conditions possesses a unique genetic mutation, and genetic analysis is thus more useful in the diagnosis of these conditions. This article delivers an update regarding the clinical features, detailed histopathological description, and genetic information concerning hereditary reticulate pigmentary disorders and aims to provide useful background for use by clinical dermatologists and histopathologists when approaching this group of hereditary disorders.

摘要

网状色素沉着是由一组异质性的遗传性和获得性疾病引起的独特色素变化。这种色素沉着的特征是呈斑驳状外观,病变大小和色素含量各不相同。本综述讨论了网状色素沉着障碍的遗传性疾病组,如遗传性对称性色素异常症、遗传性泛发性色素异常症和北村网状肢端色素沉着症。临床表现和组织病理学特征常常重叠,导致诊断困难。然而,这些遗传性疾病中的每一种都有独特的基因突变,因此基因分析在这些疾病的诊断中更有用。本文提供了关于遗传性网状色素沉着障碍的临床特征、详细组织病理学描述和基因信息的最新情况,旨在为临床皮肤科医生和组织病理学家在处理这组遗传性疾病时提供有用的背景知识。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/87ad/5672609/f894fc5eb87f/DRP2017-3518568.001.jpg

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