title: Ehlers-Danlos Syndrome Type IV with Bilateral Pneumothorax.
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.
authors.affiliation: Division of Respiratory Medicine, Department of Internal Medicine, Shiga University of Medical Science, Japan.
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Nakagawa
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Wada
authors.forename: Takashi
authors.initials: T
authors.lastname: Hajiro
authors.forename: Taishi
authors.initials: T
authors.lastname: Nagao
authors.forename: Emiko
authors.initials: E
authors.lastname: Ogawa
authors.forename: Atsushi
authors.initials: A
authors.lastname: Hatamochi
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Tanaka
authors.forename: Yasutaka
authors.initials: Y
authors.lastname: Nakano
mesh_terms: D000293:Adolescent; D024061:Collagen Type III / Q000235:genetics; D003106:Colon / Q000293:injuries*; D003937:Diagnosis, Differential; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D011030:Pneumothorax / Q000150:complications* / Q000175:diagnosis*
chemical_list: C439971:COL3A1 protein, human; D024061:Collagen Type III