Ehlers-Danlos Syndrome Type IV with Bilateral Pneumothorax
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- Nakagawa Hiroaki
- Division of Respiratory Medicine, Department of Internal Medicine, Shiga University of Medical Science, Japan
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- Wada Hiroshi
- Division of Respiratory Medicine, Department of Internal Medicine, Shiga University of Medical Science, Japan
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- Hajiro Takashi
- Department of Respiratory Medicine, Tenri Hospital, Japan
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- Nagao Taishi
- Division of Respiratory Medicine, Department of Internal Medicine, Shiga University of Medical Science, Japan
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- Ogawa Emiko
- Division of Respiratory Medicine, Department of Internal Medicine, Shiga University of Medical Science, Japan Health Administration Center, Shiga University of Medical Science, Japan
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- Hatamochi Atsushi
- Department of Dermatology, Dokkyo Medical University, Japan
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- Tanaka Toshihiro
- Department of Dermatology, Shiga University of Medical Science, Japan
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- Nakano Yasutaka
- Division of Respiratory Medicine, Department of Internal Medicine, Shiga University of Medical Science, Japan
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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.<br>
Journal
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- Internal Medicine
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Internal Medicine 54 (24), 3181-3184, 2015
The Japanese Society of Internal Medicine