• Internal medicine · Jan 2015

    Case Reports

    Ehlers-Danlos Syndrome Type IV with Bilateral Pneumothorax.

    • Hiroaki Nakagawa, Hiroshi Wada, Takashi Hajiro, Taishi Nagao, Emiko Ogawa, Atsushi Hatamochi, Toshihiro Tanaka, and Yasutaka Nakano.
    • Division of Respiratory Medicine, Department of Internal Medicine, Shiga University of Medical Science, Japan.
    • Intern. Med. 2015 Jan 1; 54 (24): 3181-4.

    AbstractA 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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