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.
Department of Respiratory Medicine, Saitama Cardiovascular and Respiratory Center, Kumagaya. k3699001@pref.saitama.lg.jp
Takashi
T
Ishiguro
Noboru
N
Takayanagi
Yoshinori
Y
Kawabata
Hidekazu
H
Matsushima
Yutaka
Y
Yoshii
Keiji
K
Harasawa
Shozaburo
S
Yamaguchi
Koichiro
K
Yoneda
Yousuke
Y
Miyahara
Naho
N
Kagiyama
Daido
D
Tokunaga
Fumiaki
F
Aoki
Hiroo
H
Saito
Kazuyoshi
K
Kurashima
Mikio
M
Ubukata
Tsutomu
T
Yanagisawa
Yutaka
Y
Sugita
Hiroshi
H
Okita
Atsushi
A
Hatamochi
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