唐氏综合征患儿皮肤丘疹角化过度。

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-11-06 DOI:10.1111/pde.15813

Susana Giraldi, Betina Werner, Mariana Aparecida Pasa Morgan, Antonio Torrelo

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引用次数: 0

摘要

唐氏综合征（DS）是一种常见的染色体疾病，具有不同的表型和皮肤标记。本研究报告了 39 名 1-44 个月大的唐氏综合征患者，他们从出生起就出现膝盖和/或肘部凹陷处皮肤粗糙、呈褐色的症状。皮肤镜检查发现皮肤角化过度并伴有褐色鳞屑，6 例患者的活检结果显示患有乳头状瘤病和轻度角化过度。在随访的病例中，病情自行缓解。膝盖和肘部皮肤凹陷处的过度角化似乎是 DS 患者的先天性特征。

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Hyperkeratosis in Skin Dimples in Children With Down Syndrome.

Down syndrome (DS) is a common chromosomal disorder with distinct phenotypes and skin markers. This study reports 39 DS patients, aged 1-44 months, who presented from birth with rough, brownish skin in the dimples of their knees and/or elbows. Dermoscopy revealed hyperkeratosis with brownish scales, and biopsies in six cases showed papillomatosis and mild hyperkeratosis. In the cases followed, the condition resolved spontaneously. Hyperkeratosis in the skin dimples on the knees and elbows seems to be a congenital and perhaps characteristic finding in patients with DS.

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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.