Facial Sebaceous Hyperplasia in an Adolescent With Hypohidrotic Ectodermal Dysplasia.

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-09-08 DOI:10.1111/pde.15751

Elena Lucía Pinto-Pulido, Lucero Noguera-Morel, Isabel Colmenero, Antonio Torrelo, Ángela Hernández-Martín

引用次数: 0

Abstract

We report on a 13-year-old boy diagnosed with hypohidrotic ectodermal dysplasia (HED) due to a pathogenic variant in ectodysplasin A (EDA). He exhibited multiple whitish, millimetric papules clustered on the nasal ala, forehead, temporal, and zygomatic arch areas. Histological examination revealed numerous hyperplastic sebaceous lobules within the upper dermis. The occurrence of sebaceous papules in this distribution among HED patients has rarely been reported. An association with the blockage of the Wnt/β-catenin pathway due to EDA malfunction has been speculated.

查看原文本刊更多论文

患有外胚层发育不全的青少年面部皮脂腺增生症。

我们报告了一名 13 岁男孩的病例，他被诊断为因外胚层发育蛋白 A（EDA）的致病变异而导致的多汗症性外胚层发育不良（HED）。他的鼻翼、前额、颞部和颧弓部位出现多发性白色、毫米大小的丘疹。组织学检查显示，真皮层上部有许多增生的皮脂腺小叶。在 HED 患者中出现这种分布的皮脂腺丘疹很少见报道。有人推测这与 EDA 功能失常导致 Wnt/β-catenin 通路受阻有关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

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.