{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T19:10:47Z","timestamp":1776712247958,"version":"3.51.2"},"reference-count":5,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,4,28]],"date-time":"2021-04-28T00:00:00Z","timestamp":1619568000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Respirology Case Reports"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 19\u2010year\u2010old male patient was referred to our hospital for recurrent pneumothorax. He previously experienced seven episodes of pneumothorax refractory to conventional treatment including pleurodesis and wedge resection. On admission, chest computed tomography scan showed multiple cystic lesions with surrounding ground\u2010glass opacities and several nodules in both lungs. Detailed history revealed that the patient experienced haemoptysis whenever pneumothorax developed and had a family history of sudden death. Physical examination showed large eyes with conjunctival injection, hypermobile joints, and hyper\u2010extensive and easily bruised skin. All these findings led to the suspicion of vascular Ehlers\u2013Danlos syndrome (EDS). Genetic testing for the diagnosis of vascular EDS was performed and a heterozygous mutation in <jats:italic>COL3A1<\/jats:italic> gene, c.1662+1G&gt;A (IVS23(+1) G&gt;A), was confirmed. Clinicians should consider vascular EDS as the differential diagnosis of cystic lung disease with recurrent pneumothorax.<\/jats:p>","DOI":"10.1002\/rcr2.747","type":"journal-article","created":{"date-parts":[[2021,4,28]],"date-time":"2021-04-28T10:15:22Z","timestamp":1619604922000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["<scp>Ehlers\u2013Danlos<\/scp> syndrome presenting as cystic lung disease with recurrent pneumothorax: a case report"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0073-2079","authenticated-orcid":false,"given":"Min Jee","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Asan Medical Center University of Ulsan College of Medicine  Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jooae","family":"Choe","sequence":"additional","affiliation":[{"name":"Department of Radiology, Asan Medical Center University of Ulsan College of Medicine  Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beom Hee","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical Genetics Center, Asan Medical Center Children's Hospital University of Ulsan College of Medicine  Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5121-3522","authenticated-orcid":false,"given":"Jin Woo","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Pulmonology and Critical Care Medicine, Asan Medical Center University of Ulsan College of Medicine  Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,4,28]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200003093421001"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31552"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb02724.x"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.48.1818"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61094"}],"container-title":["Respirology Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/rcr2.747","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/rcr2.747","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/rcr2.747","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T08:48:24Z","timestamp":1693558104000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/rcr2.747"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,28]]},"references-count":5,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021,5]]}},"alternative-id":["10.1002\/rcr2.747"],"URL":"https:\/\/doi.org\/10.1002\/rcr2.747","archive":["Portico"],"relation":{},"ISSN":["2051-3380","2051-3380"],"issn-type":[{"value":"2051-3380","type":"print"},{"value":"2051-3380","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,4,28]]},"assertion":[{"value":"2021-03-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-25","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-04-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e00747"}}