{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:39:32Z","timestamp":1790743172833,"version":"4.1.0"},"reference-count":137,"publisher":"European Respiratory Society (ERS)","issue":"157","license":[{"start":{"date-parts":[[2020,9,17]],"date-time":"2020-09-17T00:00:00Z","timestamp":1600300800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["publications.ersnet.org"],"crossmark-restriction":true},"short-container-title":["Eur Respir Rev"],"accepted":{"date-parts":[[2020,4,22]]},"published-print":{"date-parts":[[2020,9,30]]},"abstract":"<jats:p>Birt\u2013Hogg\u2013Dub\u00e9 syndrome (BHD) is a rare inherited autosomal dominant disorder caused by germline mutations in the tumour suppressor gene<jats:italic>FLCN<\/jats:italic>, encoding the protein folliculin. Its clinical expression typically includes multiple pulmonary cysts, recurrent spontaneous pneumothoraces, cutaneous fibrofolliculomas and renal tumours of various histological types. BHD has no sex predilection and tends to manifest in the third or fourth decade of life. Multiple bilateral pulmonary cysts are found on chest computed tomography in &gt;80% of patients and more than half experience one or more episodes of pneumothorax. A family history of pneumothorax is an important clue, which suggests the diagnosis of BHD. Unlike other cystic lung diseases such as lymphangioleiomyomatosis and pulmonary Langerhans cell histiocytosis, BHD does not lead to progressive loss of lung function and chronic respiratory insufficiency. Renal tumours affect about 30% of patients during their lifetime, and can be multiple and recurrent. The diagnosis of BHD is based on a combination of genetic, clinical and\/or skin histopathological criteria. Management mainly consists of early pleurodesis in the case of pneumothorax, periodic renal imaging for tumour detection, and diagnostic work-up in search of BHD in relatives of the index patient.<\/jats:p>","DOI":"10.1183\/16000617.0042-2020","type":"journal-article","created":{"date-parts":[[2020,9,17]],"date-time":"2020-09-17T12:45:34Z","timestamp":1600346734000},"page":"200042","update-policy":"https:\/\/doi.org\/10.1183\/ers-crossmark-policy","source":"Crossref","is-referenced-by-count":93,"title":["Birt\u2013Hogg\u2013Dub\u00e9 syndrome"],"prefix":"10.1183","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5034-2218","authenticated-orcid":false,"given":"C\u00e9cile","family":"Daccord","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9491-7597","authenticated-orcid":false,"given":"Jean-Marc","family":"Good","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4860-5194","authenticated-orcid":false,"given":"Marie-Anne","family":"Morren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4123-4279","authenticated-orcid":false,"given":"Olivier","family":"Bonny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6337-7110","authenticated-orcid":false,"given":"Daniel","family":"Hohl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2933-0754","authenticated-orcid":false,"given":"Romain","family":"Lazor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"81","published-online":{"date-parts":[[2020,9,17]]},"reference":[{"key":"2024102403475746000_29.157.200042.1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00076209"},{"key":"2024102403475746000_29.157.200042.2","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1148\/radiology.172.1.2787036","article-title":"Pulmonary histiocytosis X: evaluation with high-resolution CT","volume":"172","author":"Brauner","year":"1989","journal-title":"Radiology"},{"key":"2024102403475746000_29.157.200042.3","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1016\/j.ccm.2016.04.010","article-title":"Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"37","author":"Gupta","year":"2016","journal-title":"Clin Chest Med"},{"key":"2024102403475746000_29.157.200042.4","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200510-1620CR"},{"key":"2024102403475746000_29.157.200042.5","doi-asserted-by":"publisher","DOI":"10.1378\/chest.15-1539"},{"key":"2024102403475746000_29.157.200042.6","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.212.2.r99au05567"},{"key":"2024102403475746000_29.157.200042.7","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.173.1.10397102"},{"key":"2024102403475746000_29.157.200042.8","doi-asserted-by":"publisher","DOI":"10.1097\/00004728-200307000-00003"},{"key":"2024102403475746000_29.157.200042.9","doi-asserted-by":"publisher","DOI":"10.1148\/radiol.2453061881"},{"key":"2024102403475746000_29.157.200042.10","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/j.jbspin.2016.05.019","article-title":"Cystic lung disease in Sj\u00f6gren's syndrome: an observational study","volume":"84","author":"Lechtman","year":"2017","journal-title":"Joint Bone Spine"},{"key":"2024102403475746000_29.157.200042.11","doi-asserted-by":"publisher","DOI":"10.1097\/00005382-200110000-00009"},{"key":"2024102403475746000_29.157.200042.12","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1148\/radiology.187.3.8497631","article-title":"Desquamative interstitial pneumonia: thin-section CT findings in 22 patients","volume":"187","author":"Hartman","year":"1993","journal-title":"Radiology"},{"key":"2024102403475746000_29.157.200042.13","doi-asserted-by":"crossref","first-page":"7300","DOI":"10.1038\/s41598-018-25670-8","article-title":"The clinical characteristics and outcomes of follicular bronchiolitis in Chinese adult patients","volume":"8","author":"Lu","year":"2018","journal-title":"Sci Rep"},{"key":"2024102403475746000_29.157.200042.14","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1977.01640120042005"},{"key":"2024102403475746000_29.157.200042.15","doi-asserted-by":"publisher","DOI":"10.1007\/BF00582068"},{"key":"2024102403475746000_29.157.200042.16","first-page":"928","article-title":"Fibromes perifolliculaires, polypose colique familiale, pneumothorax spontan\u00e9s familiaux","volume":"113","author":"Binet","year":"1986","journal-title":"Ann Dermatol Venereol"},{"key":"2024102403475746000_29.157.200042.17","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1016\/S0190-9622(08)82049-X","article-title":"Bilateral renal cell carcinoma in the Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"29","author":"Roth","year":"1993","journal-title":"J Am Acad Dermatol"},{"key":"2024102403475746000_29.157.200042.18","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1111\/j.1365-4362.1996.tb03642.x","article-title":"Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"35","author":"Chung","year":"1996","journal-title":"Int J Dermatol"},{"key":"2024102403475746000_29.157.200042.19","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.135.10.1195"},{"key":"2024102403475746000_29.157.200042.20","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1204703"},{"key":"2024102403475746000_29.157.200042.21","doi-asserted-by":"publisher","DOI":"10.1086\/323744"},{"key":"2024102403475746000_29.157.200042.22","doi-asserted-by":"publisher","DOI":"10.1016\/S1535-6108(02)00104-6"},{"key":"2024102403475746000_29.157.200042.23","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21130"},{"key":"2024102403475746000_29.157.200042.24","unstructured":"European BHD Consortium. www.europeanbhdconsortium.eu\/. Date last accessed: August 15, 2020."},{"key":"2024102403475746000_29.157.200042.25","doi-asserted-by":"publisher","DOI":"10.1086\/430842"},{"key":"2024102403475746000_29.157.200042.26","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20872"},{"key":"2024102403475746000_29.157.200042.27","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.070565"},{"key":"2024102403475746000_29.157.200042.28","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1002\/humu.21519","article-title":"Birt\u2013Hogg\u2013Dub\u00e9 syndrome-associated FLCN mutations disrupt protein stability","volume":"32","author":"Nahorski","year":"2011","journal-title":"Hum Mutat"},{"key":"2024102403475746000_29.157.200042.29","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1007\/s10689-012-9593-8","article-title":"A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation","volume":"12","author":"Menko","year":"2013","journal-title":"Fam Cancer"},{"key":"2024102403475746000_29.157.200042.30","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1186\/s12881-018-0558-0","article-title":"Delayed diagnosis of Birt\u2013Hogg\u2013Dub\u00e9 syndrome due to marked intrafamilial clinical variability: a case report","volume":"19","author":"Sattler","year":"2018","journal-title":"BMC Med Genet"},{"key":"2024102403475746000_29.157.200042.31","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200501-143OC"},{"key":"2024102403475746000_29.157.200042.32","doi-asserted-by":"publisher","DOI":"10.1086\/428455"},{"key":"2024102403475746000_29.157.200042.33","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.049874"},{"key":"2024102403475746000_29.157.200042.34","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00132707"},{"key":"2024102403475746000_29.157.200042.35","doi-asserted-by":"crossref","unstructured":"Cottin V , Cordier JF , Khouatra C , et al. Multiple cystic lung diseases. In: V Cottin , JF Cordier , L Richeldi , eds. Orphan Lung Diseases: A Clinical Guide to Rare Lung Disease. London, Springer-Verlag, 2015; pp. 253\u2013270.","DOI":"10.1007\/978-1-4471-2401-6_16"},{"key":"2024102403475746000_29.157.200042.36","doi-asserted-by":"publisher","DOI":"10.1038\/nrurol.2015.206"},{"key":"2024102403475746000_29.157.200042.37","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200610-1483OC"},{"key":"2024102403475746000_29.157.200042.38","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.073304"},{"key":"2024102403475746000_29.157.200042.39","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1016\/j.chest.2019.12.019","article-title":"Genetic risk factors for spontaneous pneumothorax in Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"157","author":"Sattler","year":"2020","journal-title":"Chest"},{"key":"2024102403475746000_29.157.200042.40","doi-asserted-by":"publisher","DOI":"10.1186\/1476-4598-9-160"},{"key":"2024102403475746000_29.157.200042.41","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.68.4.820"},{"key":"2024102403475746000_29.157.200042.42","first-page":"4583","article-title":"Inactivation of BHD in sporadic renal tumors","volume":"63","author":"Khoo","year":"2003","journal-title":"Cancer Res"},{"key":"2024102403475746000_29.157.200042.43","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/dji154"},{"key":"2024102403475746000_29.157.200042.44","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.3800152"},{"key":"2024102403475746000_29.157.200042.45","doi-asserted-by":"crossref","first-page":"1865","DOI":"10.5858\/2006-130-1865-BSCFAG","article-title":"Birt\u2013Hogg\u2013Dub\u00e9 syndrome: clinicopathologic findings and genetic alterations","volume":"130","author":"Adley","year":"2006","journal-title":"Arch Pathol Lab Med"},{"key":"2024102403475746000_29.157.200042.46","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0603781103"},{"key":"2024102403475746000_29.157.200042.47","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2009.14"},{"key":"2024102403475746000_29.157.200042.48","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e3182475240"},{"key":"2024102403475746000_29.157.200042.49","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2014.03.025"},{"key":"2024102403475746000_29.157.200042.50","doi-asserted-by":"publisher","DOI":"10.14814\/phy2.12107"},{"key":"2024102403475746000_29.157.200042.51","doi-asserted-by":"publisher","DOI":"10.1016\/j.rmed.2014.11.008"},{"key":"2024102403475746000_29.157.200042.52","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2016.02.014"},{"key":"2024102403475746000_29.157.200042.53","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz158"},{"key":"2024102403475746000_29.157.200042.54","doi-asserted-by":"publisher","DOI":"10.1517\/21678707.2014.987124"},{"key":"2024102403475746000_29.157.200042.55","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1016\/j.ajpath.2015.10.013","article-title":"Genome-wide uniparental disomy and copy number variations in renal cell carcinomas associated with Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"186","author":"Iribe","year":"2016","journal-title":"Am J Pathol"},{"key":"2024102403475746000_29.157.200042.56","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01030.x"},{"key":"2024102403475746000_29.157.200042.57","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-013-9660-9"},{"key":"2024102403475746000_29.157.200042.58","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(09)70188-3"},{"key":"2024102403475746000_29.157.200042.59","doi-asserted-by":"publisher","DOI":"10.1159\/000358216"},{"key":"2024102403475746000_29.157.200042.60","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1111\/cge.12807","article-title":"Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"90","author":"Furuya","year":"2016","journal-title":"Clin Genet"},{"key":"2024102403475746000_29.157.200042.61","doi-asserted-by":"crossref","first-page":"e0170713","DOI":"10.1371\/journal.pone.0170713","article-title":"Birt\u2013Hogg\u2013Dub\u00e9 syndrome prospectively detected by review of chest computed tomography scans","volume":"12","author":"Park","year":"2017","journal-title":"PLoS One"},{"key":"2024102403475746000_29.157.200042.62","first-page":"393","article-title":"Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"11","author":"Zbar","year":"2002","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"2024102403475746000_29.157.200042.63","doi-asserted-by":"publisher","DOI":"10.1016\/j.rmed.2011.01.002"},{"key":"2024102403475746000_29.157.200042.64","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1186\/s13023-018-0964-6","article-title":"Air travel and incidence of pneumothorax in lymphangioleiomyomatosis","volume":"13","author":"Gonano","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"2024102403475746000_29.157.200042.65","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1097\/MCP.0000000000000391","article-title":"Spontaneous pneumothorax in diffuse cystic lung diseases","volume":"23","author":"Cooley","year":"2017","journal-title":"Curr Opin Pulm Med"},{"key":"2024102403475746000_29.157.200042.66","doi-asserted-by":"crossref","first-page":"1506","DOI":"10.1186\/s40064-016-3009-4","article-title":"Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"5","author":"Johannesma","year":"2016","journal-title":"Springerplus"},{"key":"2024102403475746000_29.157.200042.67","doi-asserted-by":"publisher","DOI":"10.1513\/AnnalsATS.201611-886OC"},{"key":"2024102403475746000_29.157.200042.68","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.054304"},{"key":"2024102403475746000_29.157.200042.69","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.2011.463"},{"key":"2024102403475746000_29.157.200042.70","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1164\/rccm.201404-0698LE","article-title":"In-flight pneumothorax: diagnosis may be missed because of symptom delay","volume":"190","author":"Postmus","year":"2014","journal-title":"Am J Respir Crit Care Med"},{"key":"2024102403475746000_29.157.200042.71","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2009.09517.x"},{"key":"2024102403475746000_29.157.200042.72","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1016\/j.athoracsur.2013.05.120","article-title":"Radiologically indeterminate pulmonary cysts in Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"97","author":"Onuki","year":"2014","journal-title":"Ann Thorac Surg"},{"key":"2024102403475746000_29.157.200042.73","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1002\/mgg3.373","article-title":"Childhood pneumothorax in Birt\u2013Hogg\u2013Dub\u00e9 syndrome: a cohort study and review of the literature","volume":"6","author":"Geilswijk","year":"2018","journal-title":"Mol Genet Genomic Med"},{"key":"2024102403475746000_29.157.200042.74","doi-asserted-by":"publisher","DOI":"10.1378\/chest.07-0042"},{"key":"2024102403475746000_29.157.200042.75","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejrad.2011.03.039"},{"key":"2024102403475746000_29.157.200042.76","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/s12931-016-0339-2","article-title":"Birt\u2013Hogg\u2013Dub\u00e9 syndrome: a large single-family cohort","volume":"17","author":"Skolnik","year":"2016","journal-title":"Respir Res"},{"key":"2024102403475746000_29.157.200042.77","doi-asserted-by":"crossref","first-page":"830","DOI":"10.3904\/kjim.2018.119","article-title":"Birt\u2013Hogg\u2013Dub\u00e9 syndrome in Korean: clinicoradiologic features and long-term follow-up","volume":"34","author":"Lee","year":"2019","journal-title":"Korean J Intern Med"},{"key":"2024102403475746000_29.157.200042.78","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1186\/s13023-020-01402-y","article-title":"Lung function in Birt\u2013Hogg\u2013Dub\u00e9 syndrome: a retrospective analysis of 96 patients","volume":"15","author":"Daccord","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"2024102403475746000_29.157.200042.79","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1016\/j.rmed.2015.05.005","article-title":"Possible familial case of Birt\u2013Hogg\u2013Dub\u00e9 syndrome complicated with lung cancer: a possible link between these two disease entities","volume":"109","author":"Nishida","year":"2015","journal-title":"Respir Med"},{"key":"2024102403475746000_29.157.200042.80","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1186\/s13023-014-0163-z","article-title":"Renal cell tumour characteristics in patients with the Birt\u2013Hogg\u2013Dub\u00e9 cancer susceptibility syndrome: a retrospective, multicentre study","volume":"9","author":"Benusiglio","year":"2014","journal-title":"Orphanet J Rare Dis"},{"key":"2024102403475746000_29.157.200042.81","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1111\/1346-8138.13091","article-title":"Perifollicular fibromas associated with Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"42","author":"Kamada","year":"2015","journal-title":"J Dermatol"},{"key":"2024102403475746000_29.157.200042.82","doi-asserted-by":"crossref","unstructured":"Requena L , Sangueza O . Fibrofolliculoma and trichodiscoma. Requena L , Sangueza O , eds. In: Cutaneous Adnexal Neoplasms. Cham, Springer, 2017; pp. 503\u2013515.","DOI":"10.1007\/978-3-319-45704-8_44"},{"key":"2024102403475746000_29.157.200042.83","first-page":"729","article-title":"Common benign skin tumors","volume":"67","author":"Luba","year":"2003","journal-title":"Am Fam Physician"},{"key":"2024102403475746000_29.157.200042.84","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1097\/DAD.0b013e318259b593","article-title":"Syndrome of Birt\u2013Hogg\u2013Dub\u00e9, a histopathological pitfall with similarities to tuberous sclerosis: a report of three cases","volume":"35","author":"Spring","year":"2013","journal-title":"Am J Dermatopathol"},{"key":"2024102403475746000_29.157.200042.85","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1001\/jamadermatol.2015.0215","article-title":"Comedonal and cystic fibrofolliculomas in Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"151","author":"Aivaz","year":"2015","journal-title":"JAMA Dermatol"},{"key":"2024102403475746000_29.157.200042.86","doi-asserted-by":"crossref","first-page":"e294","DOI":"10.1111\/pde.12945","article-title":"Birt\u2013Hogg\u2013Dub\u00e9 syndrome presenting as a nevus comedonicus-like lesion in an 8-year-old boy","volume":"33","author":"Sprague","year":"2016","journal-title":"Pediatr Dermatol"},{"key":"2024102403475746000_29.157.200042.87","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1111\/j.1468-3083.1999.tb00843.x","article-title":"Perifollicular fibroma","volume":"13","author":"Cho","year":"1999","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"2024102403475746000_29.157.200042.88","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1111\/j.1468-3083.1999.tb01034.x","article-title":"Multiple perifollicular fibromas","volume":"12","author":"McKenna","year":"1999","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"2024102403475746000_29.157.200042.89","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1111\/j.1600-0560.2012.01929.x","article-title":"Perifollicular fibroma in Birt\u2013Hogg\u2013Dub\u00e9 syndrome: an association revisited","volume":"39","author":"Shvartsbeyn","year":"2012","journal-title":"J Cutan Pathol"},{"key":"2024102403475746000_29.157.200042.90","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0560.1977.tb00920.x"},{"key":"2024102403475746000_29.157.200042.91","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1111\/cup.12811","article-title":"Multiple angiomatous nodules: a novel skin tumor in Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"43","author":"Nikolaidou","year":"2016","journal-title":"J Cutan Pathol"},{"key":"2024102403475746000_29.157.200042.92","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.jdcr.2016.03.014","article-title":"Koenen's tumor and facial angiofibromas in a case of Birt\u2013Hogg\u2013Dub\u00e9 syndrome: a cutaneous contribution to growing evidence of a relationship with tuberous sclerosis complex","volume":"2","author":"DiCicco","year":"2016","journal-title":"JAAD Case Rep"},{"key":"2024102403475746000_29.157.200042.93","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1016\/j.jdcr.2019.02.009","article-title":"Birt\u2013Hogg\u2013Dub\u00e9 syndrome initially diagnosed as tuberous sclerosis complex","volume":"5","author":"Pithadia","year":"2019","journal-title":"JAAD Case Rep"},{"key":"2024102403475746000_29.157.200042.94","doi-asserted-by":"publisher","DOI":"10.1016\/S1079-2104(97)90152-9"},{"key":"2024102403475746000_29.157.200042.95","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2017.09.044"},{"key":"2024102403475746000_29.157.200042.96","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.jaad.2010.11.039","article-title":"Familial multiple discoid fibromas: a look-alike of Birt\u2013Hogg\u2013Dub\u00e9 syndrome not linked to the FLCN locus","volume":"66","author":"Starink","year":"2012","journal-title":"J Am Acad Dermatol"},{"key":"2024102403475746000_29.157.200042.97","doi-asserted-by":"publisher","DOI":"10.1067\/S0190-9622(03)01582-2"},{"key":"2024102403475746000_29.157.200042.98","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1590\/abd1806-4841.20154114","article-title":"Benign follicular tumors","volume":"90","author":"Tellechea","year":"2015","journal-title":"An Bras Dermatol"},{"key":"2024102403475746000_29.157.200042.99","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4632.2004.02095.x"},{"key":"2024102403475746000_29.157.200042.100","doi-asserted-by":"publisher","DOI":"10.1001\/archdermatol.2010.333"},{"key":"2024102403475746000_29.157.200042.101","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1111\/j.1365-4632.2012.05742.x","article-title":"Birt\u2013Hogg\u2013Dub\u00e9 syndrome in a patient with melanoma and a novel mutation in the FCLN gene","volume":"52","author":"Mota-Burgos","year":"2013","journal-title":"Int J Dermatol"},{"key":"2024102403475746000_29.157.200042.102","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1016\/j.jdcr.2019.08.018","article-title":"Melanoma in a patient with previously unrecognized Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"5","author":"Nowsheen","year":"2019","journal-title":"JAAD Case Rep"},{"key":"2024102403475746000_29.157.200042.103","doi-asserted-by":"crossref","first-page":"143","DOI":"10.3109\/13816810.2010.544367","article-title":"Choroidal melanoma and lid fibrofoliculomas in Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"32","author":"Fontcuberta","year":"2011","journal-title":"Ophthalmic Genet"},{"key":"2024102403475746000_29.157.200042.104","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1097\/ICB.0000000000000595","article-title":"Choroidal melanoma, sector melanocytosis, and retinal pigment epithelial microdetachments in Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"13","author":"Marous","year":"2019","journal-title":"Retin Cases Brief Rep"},{"key":"2024102403475746000_29.157.200042.105","doi-asserted-by":"crossref","first-page":"e132","DOI":"10.1111\/bjd.15937","article-title":"Cutaneous melanoma in Birt\u2013Hogg\u2013Dub\u00e9 syndrome: part of the clinical spectrum?","volume":"178","author":"Sattler","year":"2018","journal-title":"Br J Dermatol"},{"key":"2024102403475746000_29.157.200042.106","doi-asserted-by":"publisher","DOI":"10.1097\/01.ju.0000154629.45832.30"},{"key":"2024102403475746000_29.157.200042.107","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-200212000-00002"},{"key":"2024102403475746000_29.157.200042.108","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.2214\/AJR.17.18071","article-title":"The ABCs of BHD: An in-depth review of Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"209","author":"Gupta","year":"2017","journal-title":"AJR Am J Roentgenol"},{"key":"2024102403475746000_29.157.200042.109","doi-asserted-by":"crossref","first-page":"e0212952","DOI":"10.1371\/journal.pone.0212952","article-title":"Renal imaging in 199 Dutch patients with Birt\u2013Hogg\u2013Dub\u00e9 syndrome: screening compliance and outcome","volume":"14","author":"Johannesma","year":"2019","journal-title":"PLoS One"},{"key":"2024102403475746000_29.157.200042.110","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/1897-4287-10-13","article-title":"Birt\u2013Hogg\u2013Dub\u00e9 syndrome presenting as multiple oncocytic parotid tumors","volume":"10","author":"Lindor","year":"2012","journal-title":"Hered Cancer Clin Pract"},{"key":"2024102403475746000_29.157.200042.111","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1111\/j.1399-0004.2010.01480.x","article-title":"Constitutional FLCN mutations in patients with suspected Birt\u2013Hogg\u2013Dub\u00e9 syndrome ascertained for non-cutaneous manifestations","volume":"79","author":"Maffe","year":"2011","journal-title":"Clin Genet"},{"key":"2024102403475746000_29.157.200042.112","first-page":"6265175","article-title":"Parotid oncocytoma as a manifestation of Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"2018","author":"Yoshida","year":"2018","journal-title":"Case Rep Radiol"},{"key":"2024102403475746000_29.157.200042.113","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1007\/s12105-018-0922-6","article-title":"Adult-type rhabdomyoma of the larynx in Birt\u2013Hogg\u2013Dub\u00e9 syndrome: evidence for a real association","volume":"13","author":"Balakumar","year":"2019","journal-title":"Head Neck Pathol"},{"key":"2024102403475746000_29.157.200042.114","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejrad.2009.09.004"},{"key":"2024102403475746000_29.157.200042.115","doi-asserted-by":"publisher","DOI":"10.2214\/AJR.10.4757"},{"key":"2024102403475746000_29.157.200042.116","doi-asserted-by":"crossref","first-page":"766","DOI":"10.2214\/AJR.18.20232","article-title":"Differentiation between lymphangioleiomyomatosis and Birt\u2013Hogg\u2013Dub\u00e9 syndrome: analysis of pulmonary cysts on CT images","volume":"212","author":"Park","year":"2019","journal-title":"AJR Am J Roentgenol"},{"key":"2024102403475746000_29.157.200042.117","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1111\/resp.12405","article-title":"The pathogenesis of pneumothorax in Birt\u2013Hogg\u2013Dub\u00e9 syndrome: a hypothesis","volume":"19","author":"Johannesma","year":"2014","journal-title":"Respirology"},{"key":"2024102403475746000_29.157.200042.118","doi-asserted-by":"crossref","first-page":"2021","DOI":"10.1148\/rg.2018180127","article-title":"2017 AUA Renal mass and localized renal cancer guidelines: imaging implications","volume":"38","author":"Ward","year":"2018","journal-title":"Radiographics"},{"key":"2024102403475746000_29.157.200042.119","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1080\/21681805.2019.1703805","article-title":"Does renal mass biopsy influence multidisciplinary treatment recommendations?","volume":"54","author":"Lobo","year":"2020","journal-title":"Scand J Urol"},{"key":"2024102403475746000_29.157.200042.120","first-page":"395","article-title":"Pleuropulmonary pathology of Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"30","author":"Butnor","year":"2006","journal-title":"Am J Surg Pathol"},{"key":"2024102403475746000_29.157.200042.121","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1827.2009.02434.x"},{"key":"2024102403475746000_29.157.200042.122","doi-asserted-by":"publisher","DOI":"10.1111\/his.12368"},{"key":"2024102403475746000_29.157.200042.123","doi-asserted-by":"crossref","first-page":"e0209504","DOI":"10.1371\/journal.pone.0209504","article-title":"Kidney cancer characteristics and genotype-phenotype-correlations in Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"13","author":"Sattler","year":"2018","journal-title":"PLoS ONE"},{"key":"2024102403475746000_29.157.200042.124","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00196914"},{"key":"2024102403475746000_29.157.200042.125","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1111\/resp.13191","article-title":"Novel clinical scoring system to identify patients with pneumothorax with suspicion for Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"23","author":"Ebana","year":"2018","journal-title":"Respirology"},{"key":"2024102403475746000_29.157.200042.126","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1159\/000498973","article-title":"The relevance of family history taking in the detection and management of Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"98","author":"Torricelli","year":"2019","journal-title":"Respiration"},{"key":"2024102403475746000_29.157.200042.127","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1093\/ejcts\/ezz171","article-title":"Familial spontaneous pneumothorax: importance of screening for Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"57","author":"Liu","year":"2020","journal-title":"Eur J Cardiothorac Surg"},{"key":"2024102403475746000_29.157.200042.128","doi-asserted-by":"crossref","first-page":"792","DOI":"10.2214\/AJR.19.21176","article-title":"Role of radiologists in the diagnosis of unsuspected Birt\u2013Hogg\u2013Dub\u00e9 syndrome in a tertiary clinical practice","volume":"213","author":"Lee","year":"2019","journal-title":"AJR Am J Roentgenol"},{"key":"2024102403475746000_29.157.200042.129","unstructured":"Sattler EC , Steinlein OK . Birt\u2013Hogg\u2013Dub\u00e9 syndrome. In: MP Adam , HH Ardinger , RA Pagon , et al., eds. GeneReviews\u00ae. 1993-2020. Seattle, University of Washington, Seattle, 2020."},{"key":"2024102403475746000_29.157.200042.130","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1186\/s13023-018-0790-x","article-title":"A total pleural covering of absorbable cellulose mesh prevents pneumothorax recurrence in patients with Birt\u2013Hogg\u2013Dub\u00e9 syndrome","volume":"13","author":"Mizobuchi","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"2024102403475746000_29.157.200042.131","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1007\/s10689-013-9657-4","article-title":"Diagnosis and management of BHD-associated kidney cancer","volume":"12","author":"Stamatakis","year":"2013","journal-title":"Fam Cancer"},{"key":"2024102403475746000_29.157.200042.132","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.198.3.8628872"},{"key":"2024102403475746000_29.157.200042.133","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(05)66524-X"},{"key":"2024102403475746000_29.157.200042.134","first-page":"503","article-title":"[A case of metastatic renal cell carcinoma associated with Birt\u2013Hogg\u2013Dub\u00e9 syndrome treated with molecular-targeting agents]","volume":"59","author":"Nakamura","year":"2013","journal-title":"Hinyokika Kiyo"},{"key":"2024102403475746000_29.157.200042.135","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1067\/mjd.2000.109294","article-title":"Treatment of Birt\u2013Hogg\u2013Dub\u00e9 syndrome with erbium:YAG laser","volume":"43","author":"Gambichler","year":"2000","journal-title":"J Am Acad Dermatol"},{"key":"2024102403475746000_29.157.200042.136","doi-asserted-by":"crossref","first-page":"S279","DOI":"10.5021\/ad.2011.23.S2.S279","article-title":"Multiple facial papules of Birt\u2013Hogg\u2013Dub\u00e9 syndrome treated with a CO2 laser","volume":"23","author":"Truchuelo","year":"2011","journal-title":"Ann Dermatol"},{"key":"2024102403475746000_29.157.200042.137","doi-asserted-by":"crossref","first-page":"e99071","DOI":"10.1371\/journal.pone.0099071","article-title":"Topical rapamycin as a treatment for fibrofolliculomas in Birt\u2013Hogg\u2013Dub\u00e9 syndrome: a double-blind placebo-controlled randomized split-face trial","volume":"9","author":"Gijezen","year":"2014","journal-title":"PLoS ONE"}],"container-title":["European Respiratory Review"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1183\/16000617.0042-2020","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,24]],"date-time":"2025-02-24T05:01:48Z","timestamp":1740373308000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.ersnet.org\/lookup\/doi\/10.1183\/16000617.0042-2020"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,17]]},"references-count":137,"journal-issue":{"issue":"157","published-online":{"date-parts":[[2020,9,17]]},"published-print":{"date-parts":[[2020,9,30]]}},"alternative-id":["10.1183\/16000617.0042-2020"],"URL":"https:\/\/doi.org\/10.1183\/16000617.0042-2020","relation":{},"ISSN":["0905-9180","1600-0617"],"issn-type":[{"value":"0905-9180","type":"print"},{"value":"1600-0617","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,17]]}}}