{"title":"Neurofibromatosis Type-1 Lung Disease Complicated by Pleuroparenchymal Fibroelastosis.","authors":"Abhir Nainani, Hugh Buzacott, Nicole Goh","doi":"10.1002/rcr2.70137","DOIUrl":null,"url":null,"abstract":"<p><p>Neurofibromatosis type-1 is a rare autosomal dominant disease, due to the loss of the NF1 tumour suppressor gene. Here we present a case of a 28-year-old man with neurofibromatosis type-1 lung disease and pleuroparenchymal fibroelastosis leading to recurrent pneumothoraxes requiring intervention.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":"13 3","pages":"e70137"},"PeriodicalIF":0.8000,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11868829/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Respirology Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1002/rcr2.70137","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/3/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"RESPIRATORY SYSTEM","Score":null,"Total":0}
引用次数: 0
Abstract
Neurofibromatosis type-1 is a rare autosomal dominant disease, due to the loss of the NF1 tumour suppressor gene. Here we present a case of a 28-year-old man with neurofibromatosis type-1 lung disease and pleuroparenchymal fibroelastosis leading to recurrent pneumothoraxes requiring intervention.
期刊介绍:
Respirology Case Reports is an open-access online journal dedicated to the publication of original clinical case reports, case series, clinical images and clinical videos in all fields of respiratory medicine. The Journal encourages the international exchange between clinicians and researchers of experiences in diagnosing and treating uncommon diseases or diseases with unusual presentations. All manuscripts are peer-reviewed through a streamlined process that aims at providing a rapid turnaround time from submission to publication.