交界性表皮松解症伴有喉狭窄:病例报告和文献综述。

Q3 Medicine
Firyal Balushi, Ziyad Al Harrasi, Maathir Al Farsi, Marwa Al Qurani
{"title":"交界性表皮松解症伴有喉狭窄:病例报告和文献综述。","authors":"Firyal Balushi, Ziyad Al Harrasi, Maathir Al Farsi, Marwa Al Qurani","doi":"10.22038/ijorl.2024.78360.3639","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Introduction: Junctional Epidermolysis Bullosa (JEB) is a rare subtype of the Epidermolysis Bullosa which itself is a rare genetic disorder. While mucosal involvement of pharynx and oesophagus has been reported, laryngeal involvement is rare.</p><p><strong>Case report: </strong>A 7-month-old male child who was known to have Junctional Epidermolysis Bullosa presented to the emergency department with respiratory distress associated with a stridor which was eventfully found to have multiple level laryngeal stenosis.</p><p><strong>Conclusions: </strong>Longitudinal cohort studies are required to determine the long-term outcome and the anticipated behavior of epidermolysis bullosa in patients with laryngeal manifestation to avoid unnecessary surgical interventions.</p>","PeriodicalId":14607,"journal":{"name":"Iranian Journal of Otorhinolaryngology","volume":"36 5","pages":"613-617"},"PeriodicalIF":0.0000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11421763/pdf/","citationCount":"0","resultStr":"{\"title\":\"Junctional Epidermolysis Bullosa Associated Laryngeal Stenosis: A Case Report and Review of Literature.\",\"authors\":\"Firyal Balushi, Ziyad Al Harrasi, Maathir Al Farsi, Marwa Al Qurani\",\"doi\":\"10.22038/ijorl.2024.78360.3639\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Introduction: Junctional Epidermolysis Bullosa (JEB) is a rare subtype of the Epidermolysis Bullosa which itself is a rare genetic disorder. While mucosal involvement of pharynx and oesophagus has been reported, laryngeal involvement is rare.</p><p><strong>Case report: </strong>A 7-month-old male child who was known to have Junctional Epidermolysis Bullosa presented to the emergency department with respiratory distress associated with a stridor which was eventfully found to have multiple level laryngeal stenosis.</p><p><strong>Conclusions: </strong>Longitudinal cohort studies are required to determine the long-term outcome and the anticipated behavior of epidermolysis bullosa in patients with laryngeal manifestation to avoid unnecessary surgical interventions.</p>\",\"PeriodicalId\":14607,\"journal\":{\"name\":\"Iranian Journal of Otorhinolaryngology\",\"volume\":\"36 5\",\"pages\":\"613-617\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11421763/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Iranian Journal of Otorhinolaryngology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.22038/ijorl.2024.78360.3639\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Iranian Journal of Otorhinolaryngology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.22038/ijorl.2024.78360.3639","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0

摘要

导言简介:简介:交界性表皮松解症(JEB)是表皮松解症的一种罕见亚型,而表皮松解症本身是一种罕见的遗传性疾病。虽然咽部和食道粘膜受累已有报道,但喉部受累却很少见:病例报告:一名已知患有交界性表皮松解症的 7 个月大男婴因呼吸困难并伴有喘鸣而到急诊科就诊,最终发现他患有多层次喉狭窄:需要进行纵向队列研究,以确定有喉部表现的表皮松解症患者的长期预后和预期行为,从而避免不必要的手术干预。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Junctional Epidermolysis Bullosa Associated Laryngeal Stenosis: A Case Report and Review of Literature.

Introduction: Introduction: Junctional Epidermolysis Bullosa (JEB) is a rare subtype of the Epidermolysis Bullosa which itself is a rare genetic disorder. While mucosal involvement of pharynx and oesophagus has been reported, laryngeal involvement is rare.

Case report: A 7-month-old male child who was known to have Junctional Epidermolysis Bullosa presented to the emergency department with respiratory distress associated with a stridor which was eventfully found to have multiple level laryngeal stenosis.

Conclusions: Longitudinal cohort studies are required to determine the long-term outcome and the anticipated behavior of epidermolysis bullosa in patients with laryngeal manifestation to avoid unnecessary surgical interventions.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Iranian Journal of Otorhinolaryngology
Iranian Journal of Otorhinolaryngology Medicine-Otorhinolaryngology
CiteScore
1.30
自引率
0.00%
发文量
72
审稿时长
12 weeks
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信