Ectodermal dysplasia and cholesteatoma: A cross-sectional analysis of otologic issues

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-07-15 DOI:10.1016/j.ijporl.2024.112043

Radhika Duggal , Clayton J. Butcher , Mary D. Fete , Becky M. Abbott , Brandon Hopkins

{"title":"Ectodermal dysplasia and cholesteatoma: A cross-sectional analysis of otologic issues","authors":"Radhika Duggal , Clayton J. Butcher , Mary D. Fete , Becky M. Abbott , Brandon Hopkins","doi":"10.1016/j.ijporl.2024.112043","DOIUrl":null,"url":null,"abstract":"<div><h3>Objectives</h3><p>Previous studies have also associated cleft palate with increased cholesteatoma risk. Despite this close relation, the incidence of cholesteatoma and associated otologic issues in patients with ectodermal dysplasia types highly associated with cleft palate (EDT-ACPs) has not been formally analyzed. This study provides insight to guide clinicians caring for patients with ED types associated with cleft palate.</p></div><div><h3>Methods</h3><p>Individuals with <em>TP63</em> disorders and Goltz syndrome/Focal Dermal Hypoplasia in the National Foundation for Ectodermal Dysplasia database were contacted for participation in an online REDCap survey from Sept–Dec ‘22. Descriptive statistics were generated using SAS JMP Pro 17 statistical software.</p></div><div><h3>Results</h3><p>65 individuals participated in the survey (response rate approx. 18 %). The median [IQR] age was 22 [14, 43], 41 (63 %) were female, and Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome (EEC) was most common (n = 26, 40 %). We found that, among our respondents with a history of cleft palate, the incidence of cholesteatoma was 39 %. Among respondents without a history of cleft palate, the incidence of cholesteatoma was 13 %</p></div><div><h3>Conclusions</h3><p>Otologic issues, such as cholesteatoma, can have permanent implications including hearing loss that can be minimized by early identification and treatment. The estimated incidence of cholesteatoma among our participants is far above the estimated incidence of cholesteatoma in the general population with and without a history of cleft palate, suggesting an independent contribution of EDT-ACPs to the risk of cholesteatoma.</p></div>","PeriodicalId":1,"journal":{"name":"Accounts of Chemical Research","volume":null,"pages":null},"PeriodicalIF":16.4000,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0165587624001976/pdfft?md5=476f6f8e81707570331196dd63830c78&pid=1-s2.0-S0165587624001976-main.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Accounts of Chemical Research","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0165587624001976","RegionNum":1,"RegionCategory":"化学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CHEMISTRY, MULTIDISCIPLINARY","Score":null,"Total":0}

引用次数: 0

Abstract

Objectives

Previous studies have also associated cleft palate with increased cholesteatoma risk. Despite this close relation, the incidence of cholesteatoma and associated otologic issues in patients with ectodermal dysplasia types highly associated with cleft palate (EDT-ACPs) has not been formally analyzed. This study provides insight to guide clinicians caring for patients with ED types associated with cleft palate.

Methods

Individuals with TP63 disorders and Goltz syndrome/Focal Dermal Hypoplasia in the National Foundation for Ectodermal Dysplasia database were contacted for participation in an online REDCap survey from Sept–Dec ‘22. Descriptive statistics were generated using SAS JMP Pro 17 statistical software.

Results

65 individuals participated in the survey (response rate approx. 18 %). The median [IQR] age was 22 [14, 43], 41 (63 %) were female, and Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome (EEC) was most common (n = 26, 40 %). We found that, among our respondents with a history of cleft palate, the incidence of cholesteatoma was 39 %. Among respondents without a history of cleft palate, the incidence of cholesteatoma was 13 %

Conclusions

Otologic issues, such as cholesteatoma, can have permanent implications including hearing loss that can be minimized by early identification and treatment. The estimated incidence of cholesteatoma among our participants is far above the estimated incidence of cholesteatoma in the general population with and without a history of cleft palate, suggesting an independent contribution of EDT-ACPs to the risk of cholesteatoma.

查看原文本刊更多论文

外胚层发育不良和胆脂瘤：耳科问题的横断面分析

目的以前的研究也发现腭裂与胆脂瘤风险增加有关。尽管两者关系密切，但尚未对腭裂高度相关的外胚层发育不良类型（EDT-ACPs）患者的胆脂瘤发病率和相关耳科问题进行正式分析。本研究为临床医生护理与腭裂相关的 ED 类型患者提供了指导。方法：22 年 9 月至 12 月，我们联系了全国外胚层发育不良基金会数据库中患有 TP63 疾病和 Goltz 综合征/局灶性真皮发育不全的个体，让他们参与 REDCap 在线调查。使用 SAS JMP Pro 17 统计软件生成了描述性统计数据。结果65 人参与了调查（回复率约为 18%）。年龄中位数[IQR]为 22 [14, 43]，女性 41 人（63%），最常见的是外胚叶发育不全-外胚层发育不良-唇腭裂综合征（EEC）（n = 26, 40%）。我们发现，在有腭裂病史的受访者中，胆脂瘤的发病率为 39%。结论胆脂瘤等耳科疾病可能会造成永久性影响，包括听力损失，而早期识别和治疗可将听力损失降至最低。在我们的参与者中，胆脂瘤的估计发病率远远高于有或没有腭裂病史的普通人群中胆脂瘤的估计发病率，这表明 EDT-ACPs 对胆脂瘤的风险有独立的影响。

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.