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Ehlers?Danlos syndrome presenting as cystic lung disease with recurrent pneumothorax: a case report

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Abstract
A 19-year-old 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-glass 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-extensive and easily bruised skin. All these findings led to the suspicion of vascular Ehlers?Danlos syndrome (EDS). Genetic testing for the diagnosis of vascular EDS was performed and a heterozygous mutation in COL3A1 gene, c.1662+1G>A (IVS23(+1) G>A), was confirmed. Clinicians should consider vascular EDS as the differential diagnosis of cystic lung disease with recurrent pneumothorax.
Author(s)
송진우이범희Jooae ChoeMin Jee Kim
Issued Date
2021
Type
Article
Keyword
Case ReportCase ReportsConnective tissueCystic lung diseasedifferential diagnosisEhlers–Danlos syndromeFamily medical historyLeeJinLung diseasesMutationOstomyPneumothoraxrecurrent pneumothoraxVeins & arteries
DOI
10.1002/rcr2.747
URI
https://oak.ulsan.ac.kr/handle/2021.oak/7060
https://ulsan-primo.hosted.exlibrisgroup.com/primo-explore/fulldisplay?docid=TN_cdi_doaj_primary_oai_doaj_org_article_2da079c41ca242dbaa6cf44ac98e8c02&context=PC&vid=ULSAN&lang=ko_KR&search_scope=default_scope&adaptor=primo_central_multiple_fe&tab=default_tab&query=any,contains,Ehlers%3FDanlos%20syndrome%20presenting%20as%20cystic%20lung%20disease%20with%20recurrent%20pneumothorax:%20a%20case%20report&offset=0&pcAvailability=true
Publisher
Respirology Case Reports
Location
미국
Language
영어
ISSN
2051-3380
Citation Volume
9
Citation Number
5
Citation Start Page
0
Citation End Page
0
Appears in Collections:
Medicine > Medicine
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