{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:04:32Z","timestamp":1756425872481,"version":"3.44.0"},"reference-count":25,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,12,7]]},"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:p>A spontaneous pneumothorax may be the heralding manifestation of diffuse cystic lung disease (DCLD). Historically, these diagnoses were differentiated by unique clinical, radiographic and tissue pathology characteristics. With recent advancements in genomics, several forms of DCLD can now be diagnosed through genetic testing and patients can thereby avoid undergoing an invasive lung biopsy. We present a case of a young patient with recurrent spontaneous pneumothoraces associated with a rare DCLD, Birt-Hogg-Dub\u00e9 syndrome, that exemplifies the manifestations of this disease through classic history, imaging and pathology, along with the diagnostic utility of novel genotypic technology in the modern era.<\/jats:p>","DOI":"10.1136\/bcr-2024-262177","type":"journal-article","created":{"date-parts":[[2024,12,27]],"date-time":"2024-12-27T00:10:13Z","timestamp":1735258213000},"page":"e262177","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Correlation of classic history, imaging and pathology with novel genetics in Birt-Hogg-Dub\u00e9 syndrome"],"prefix":"10.1136","volume":"17","author":[{"given":"Zachary","family":"Haynes","sequence":"first","affiliation":[{"name":"Pulmonary and Critical Care, Walter Reed National Military Medical Center, Bethesda, Maryland, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven D","family":"Nathan","sequence":"additional","affiliation":[{"name":"Inova Fairfax Hosp, Falls Church, Virginia, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shambhu","family":"Aryal","sequence":"additional","affiliation":[{"name":"Inova Fairfax Hosp, Falls Church, Virginia, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2809-2416","authenticated-orcid":false,"given":"Alan","family":"Nyquist","sequence":"additional","affiliation":[{"name":"Inova Fairfax Hosp, Falls Church, Virginia, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,12,26]]},"reference":[{"key":"2025082804460802000_17.12.e262177.1","doi-asserted-by":"crossref","first-page":"229","DOI":"10.3904\/kjim.2016.242","article-title":"Diagnosis and treatment of cystic lung disease","volume":"32","author":"Park","year":"2017","journal-title":"Korean J Intern Med"},{"key":"2025082804460802000_17.12.e262177.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.chest.2016.04.026"},{"key":"2025082804460802000_17.12.e262177.3","doi-asserted-by":"crossref","DOI":"10.1183\/16000617.0163-2019","article-title":"Ultra-rare cystic disease","volume":"29","author":"Elia","year":"2020","journal-title":"Eur Respir Rev"},{"key":"2025082804460802000_17.12.e262177.4","doi-asserted-by":"crossref","DOI":"10.1183\/16000617.0042-2020","article-title":"Birt-Hogg-Dub\u00e9 syndrome","volume":"29","author":"Daccord","year":"2020","journal-title":"Eur Respir Rev"},{"key":"2025082804460802000_17.12.e262177.5","doi-asserted-by":"crossref","first-page":"1865","DOI":"10.5858\/2006-130-1865-BSCFAG","article-title":"Birt-Hogg-Dub\u00e9 syndrome: clinicopathologic findings and genetic alterations","volume":"130","author":"Adley","year":"2006","journal-title":"Arch Pathol Lab Med"},{"key":"2025082804460802000_17.12.e262177.6","first-page":"393","article-title":"Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dub\u00e9 syndrome","volume":"11","author":"Zbar","year":"2002","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"2025082804460802000_17.12.e262177.7","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-013-9660-9"},{"key":"2025082804460802000_17.12.e262177.8","doi-asserted-by":"crossref","first-page":"1542","DOI":"10.1038\/s41431-024-01671-2","article-title":"ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dub\u00e9 syndrome","volume":"32","author":"Geilswijk","year":"2024","journal-title":"Eur J Hum Genet"},{"key":"2025082804460802000_17.12.e262177.9","doi-asserted-by":"publisher","DOI":"10.1086\/430842"},{"key":"2025082804460802000_17.12.e262177.10","doi-asserted-by":"crossref","DOI":"10.1183\/20734735.0007-2020","article-title":"Lymphangioleiomyomatosis: a clinical review","volume":"16","author":"O\u2019Mahony","year":"2020","journal-title":"Breathe (Sheff)"},{"key":"2025082804460802000_17.12.e262177.11","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1016\/j.chest.2018.06.016","article-title":"The NHLBI LAM Registry: Prognostic Physiologic and Radiologic Biomarkers Emerge From a 15-Year Prospective Longitudinal Analysis","volume":"155","author":"Gupta","year":"2019","journal-title":"Chest"},{"key":"2025082804460802000_17.12.e262177.12","doi-asserted-by":"publisher","DOI":"10.1136\/thx.2004.035154"},{"key":"2025082804460802000_17.12.e262177.13","doi-asserted-by":"publisher","DOI":"10.1378\/chest.126.6.1867"},{"key":"2025082804460802000_17.12.e262177.14","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc0707517"},{"key":"2025082804460802000_17.12.e262177.15","first-page":"1073","article-title":"Summary for Clinicians: Lymphangioleiomyomatosis Diagnosis and Management Clinical Practice Guideline","volume":"14","author":"Feemster","year":"2017","journal-title":"Ann Am Thorac Soc"},{"key":"2025082804460802000_17.12.e262177.16","doi-asserted-by":"publisher","DOI":"10.1136\/thoraxjnl-2017-210125"},{"key":"2025082804460802000_17.12.e262177.17","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa012087"},{"key":"2025082804460802000_17.12.e262177.18","doi-asserted-by":"crossref","first-page":"230","DOI":"10.5858\/arpa.2015-0246-RA","article-title":"Pulmonary Langerhans Cell Histiocytosis: An Update From the Pathologists\u2019 Perspective","volume":"140","author":"Roden","year":"2016","journal-title":"Arch Pathol Lab Med"},{"key":"2025082804460802000_17.12.e262177.19","doi-asserted-by":"crossref","DOI":"10.1164\/rccm.201405-0974IM","article-title":"Subacute onset of pulmonary langerhans cell histiocytosis with resolution after smoking cessation","volume":"190","author":"Wolters","year":"2014","journal-title":"Am J Respir Crit Care Med"},{"key":"2025082804460802000_17.12.e262177.20","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1159\/000196171","article-title":"Clinical and radiologic features, lung function and therapeutic results in pulmonary histiocytosis X","volume":"60","author":"Sch\u00f6nfeld","year":"1993","journal-title":"Respiration"},{"key":"2025082804460802000_17.12.e262177.21","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1016\/j.ccm.2016.04.009","article-title":"Lymphocytic Interstitial Pneumonia","volume":"37","author":"Panchabhai","year":"2016","journal-title":"Clin Chest Med"},{"key":"2025082804460802000_17.12.e262177.22","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.06.00076705"},{"key":"2025082804460802000_17.12.e262177.23","doi-asserted-by":"publisher","DOI":"10.1097\/00004728-199409000-00012"},{"key":"2025082804460802000_17.12.e262177.24","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.212.2.r99au05567"},{"key":"2025082804460802000_17.12.e262177.25","doi-asserted-by":"publisher","DOI":"10.1378\/chest.122.6.2150"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-262177","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T11:46:12Z","timestamp":1756381572000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-262177"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12]]},"references-count":25,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2024,12,26]]},"published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1136\/bcr-2024-262177"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-262177","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2024,12]]}}}