title: [A case of Ehlers-Danlos syndrome suspected from pulmonary hematoma due to disruption of the lung].
abstract: A 20-year-old man was referred to our hospital due to hemoptysis. Chest CT showed a ground-glass opacity, suggesting pulmonary bleeding; however, a diagnosis was not obtained. At a follow-up examination after 2 months, Chest CT showed improvement of the ground-glass opacity, however a cavitary nodule had newly appeared. Four months later, another new nodule was found on chest X-ray film. Video-assisted thoracoscopic lung biopsy was performed for pathological diagnosis; disruption of the pleural, lung and blood vessels, and pulmonary hematoma were found. We thought of the fragility of the pleuro-pulmonary connective tissue and also thought of the probability of Ehlers-Danlos syndrome (EDS). A biochemical analysis of cultured dermal fibroblasts and molecular biological examination revealed decreased production of type III collagen in fibroblasts and COL3A1 mutation. We diagnosed this case as vascular EDS. EDS is one of the differential diagnoses in patients presenting hemoptysis and pulmonary hematoma due to disruption of the lung.
authors.affiliation: Respiratory Medicine, Saitama Cardiovascular and Respiratory Center.
authors.forename: Aya
authors.initials: A
authors.lastname: Matsushita
authors.forename: Noboru
authors.initials: N
authors.lastname: Takayanagi
authors.forename: Takashi
authors.initials: T
authors.lastname: Ishiguro
authors.forename: Keiji
authors.initials: K
authors.lastname: Harasawa
authors.forename: Noriko
authors.initials: N
authors.lastname: Tsuchiya
authors.forename: Koichiro
authors.initials: K
authors.lastname: Yoneda
authors.forename: Yousuke
authors.initials: Y
authors.lastname: Miyahara
authors.forename: Shozaburo
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: Ryozo
authors.initials: R
authors.lastname: Yano
authors.forename: Daido
authors.initials: D
authors.lastname: Tokunaga
authors.forename: Hiroo
authors.initials: H
authors.lastname: Saito
authors.forename: Kazuyoshi
authors.initials: K
authors.lastname: Kurashima
authors.forename: Mikio
authors.initials: M
authors.lastname: Ubukata
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Yanagisawa
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Sugita
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Kawabata
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Okita
authors.forename: Atsushi
authors.initials: A
authors.lastname: Hatamochi
mesh_terms: D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis*; D006406:Hematoma / Q000209:etiology* / Q000473:pathology; D006801:Humans; D008171:Lung Diseases / Q000209:etiology* / Q000473:pathology; D008297:Male; D055815:Young Adult