一例哈特派新生儿局限性皮肤病：诊断和创造性的皮肤管理。

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-09-01 Epub Date: 2024-07-04 DOI:10.1111/pde.15681

Jesse Grist, Rebecca Green, Abhay Lodha, Charlene Hunter, Katherine Lach, Thuy Phung, Renee Perrier, Michele Ramien

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引用次数: 0

摘要

限制性皮肤病是一种致命的常染色体隐性遗传病，其特征是皮肤紧密粘连、独特的面部畸形、关节发育不良和肺发育不全。虽然临床表现独特，但组织病理学和遗传学分析对于早期确诊和对这种致命疾病进行适当治疗至关重要。我们报告了一名早产哈特派男性新生儿的双链ZMPSTE24突变情况，以突出局限性皮肤病的临床和组织病理学特征，并分享我们以皮肤为导向的管理策略。

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A case of restrictive dermopathy in a Hutterite newborn: Diagnosis and creative skin-directed management.

Restrictive dermopathy is a lethal autosomal recessive disease characterized by tightly adherent skin, distinctive facial dysmorphisms, arthrogryposis, and pulmonary hypoplasia. While clinical findings are unique, histopathology and genetic analysis are critical for early diagnostic confirmation and to initiate appropriate management for this lethal disease. We report on a preterm Hutterite male neonate with biallelic ZMPSTE24 mutations to highlight the clinical and histopathological features of restrictive dermopathy and share our skin-directed management strategies.

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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.