一例使用局部辛伐他汀-胆固醇软膏治疗的康拉迪-胡尔曼-哈普尔综合征。

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-08-21 DOI:10.1111/pde.15739

Jean Zevallos, Stephanie Susano

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引用次数: 0

摘要

Conradi-Hünermann-Happle 综合征是一种罕见的影响胆固醇代谢的基因皮肤病，由依莫帕米结合蛋白（EBP）基因中的致病变体引起。该病表现为皮肤、骨骼和眼科改变。皮肤病变包括布拉斯科线后的过度角化病变，随后会好转，留下瘢痕性脱发和萎缩斑。本病例报告的目的是介绍一名接受辛伐他汀-胆固醇软膏治疗的患者的病例。

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A case of Conradi-Hünermann-Happle syndrome treated with topical simvastatin-cholesterol ointment.

Conradi-Hünermann-Happle syndrome is a rare genodermatosis affecting cholesterol metabolism caused by pathogenic variants in the emopamil binding protein (EBP) gene. It presents with skin, skeletal, and ophthalmological alterations. Cutaneous findings include hyperkeratotic lesions following Blaschko lines that subsequently improve leaving scarring alopecia and patches of atrophy. The purpose of this case report is to present a case of a patient treated with simvastatin-cholesterol ointment.

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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.