Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
Ehlers-Danlos Syndrome Type IV with Bilateral Pneumothorax
Hiroaki NakagawaHiroshi WadaTakashi HajiroTaishi NagaoEmiko OgawaAtsushi HatamochiToshihiro TanakaYasutaka Nakano
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JOURNAL OPEN ACCESS

2015 Volume 54 Issue 24 Pages 3181-3184

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Abstract

A 17-year-old teen was hospitalized with bilateral pneumothorax. After the bilateral lungs were expanded using catheter tubes, he fully recovered and he was discharged from our hospital. He had a history of colon perforation. Ehlers-Danlos syndrome (EDS) was suspected due to the combination of colon perforation and pneumothorax, and EDS type IV was confirmed after a genetic study identified a c.1511g>a mutation in the COL3A1 gene. This is the first report of bilateral pneumothorax caused by EDS type IV. Clinicians should consider EDS type IV in the differential diagnosis for bilateral pneumothorax in conjunction with distinct previous histories and radiological findings.

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© 2015 by The Japanese Society of Internal Medicine
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