Ehlers-Danlos syndrome with recurrent spontaneous pneumothoraces and cavitary lesion on chest X-ray as the initial complications.
A 17-year-old-man developed left-sided pneumothorax in 1995. Chest computed tomography (CT) showed a thick-walled cavity in the left lower lobe. Video-assisted thoracic surgery was performed, and pathologic findings of the resected lung showed a cavity, organizing hematoma, and a fibrous nodule. Fragility of connective tissue was suspected, and biochemical and molecular analysis showed reduction of type III collagen production and point mutation of the COL3A1 gene. The patient was diagnosed as having vascular-type Ehlers-Danlos syndrome (EDS). From 2002, the patient developed hemoptysis and bloody sputum once a year. Chest CT detected several nodules and cavities, which were regarded as hematomas with or without excretion. Several vascular changes including aneurysmal formations have been found since 2002, and an aneurysm of the left ulnar artery was resected. The patient continues to be followed regularly on an outpatient basis. We report a rare case of vascular-type EDS who developed pulmonary symptoms as an initial complication.
Ishiguro
Takashi
T
Department of Respiratory Medicine, Saitama Cardiovascular and Respiratory Center, Kumagaya. k3699001@pref.saitama.lg.jp
Takayanagi
Noboru
N
Kawabata
Yoshinori
Y
Matsushima
Hidekazu
H
Yoshii
Yutaka
Y
Harasawa
Keiji
K
Yamaguchi
Shozaburo
S
Yoneda
Koichiro
K
Miyahara
Yousuke
Y
Kagiyama
Naho
N
Tokunaga
Daido
D
Aoki
Fumiaki
F
Saito
Hiroo
H
Kurashima
Kazuyoshi
K
Ubukata
Mikio
M
Yanagisawa
Tsutomu
T
Sugita
Yutaka
Y
Okita
Hiroshi
H
Hatamochi
Atsushi
A
D000293:Adolescent; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000000981:diagnostic imaging*; D006801:Humans; D008171:Lung Diseases / Q000150:complications / Q000000981:diagnostic imaging*; D008297:Male; D011030:Pneumothorax / Q000150:complications / Q000000981:diagnostic imaging*; D011859:Radiography; D012008:Recurrence