Ehlers-Danlos Syndrome with Recurrent Spontaneous Pneumothoraces and Cavitary Lesion on Chest X-ray as the Initial Complications

Takashi Ishiguro; Noboru Takayanagi; Yoshinori Kawabata; Hidekazu Matsushima; Yutaka Yoshii; Keiji Harasawa; Shozaburo Yamaguchi; Koichiro Yoneda; Yousuke Miyahara; Naho Kagiyama; Daido Tokunaga; Fumiaki Aoki; Hiroo Saito; Kazuyoshi Kurashima; Mikio Ubukata; Tsutomu Yanagisawa; Yutaka Sugita; Hiroshi Okita; Atsushi Hatamochi

doi:10.2169/internalmedicine.48.1818

CASE REPORTS

Ehlers-Danlos Syndrome with Recurrent Spontaneous Pneumothoraces and Cavitary Lesion on Chest X-ray as the Initial Complications

Takashi Ishiguro, Noboru Takayanagi, Yoshinori Kawabata, Hidekazu Matsushima, Yutaka Yoshii, Keiji Harasawa, Shozaburo Yamaguchi, Koichiro Yoneda, Yousuke Miyahara, Naho Kagiyama, Daido Tokunaga, Fumiaki Aoki, Hiroo Saito, Kazuyoshi Kurashima, Mikio Ubukata, Tsutomu Yanagisawa, Yutaka Sugita, Hiroshi Okita, Atsushi Hatamochi

Author information

Takashi Ishiguro
Department of Respiratory Medicine, Saitama Cardiovascular and Respiratory Center
Noboru Takayanagi
Department of Respiratory Medicine, Saitama Cardiovascular and Respiratory Center
Yoshinori Kawabata
Division of Pathology, Saitama Cardiovascular and Respiratory Center
Hidekazu Matsushima
Department of Respiratory Medicine, Saitama Cardiovascular and Respiratory Center
Yutaka Yoshii
Department of Respiratory Medicine, Saitama Cardiovascular and Respiratory Center
Keiji Harasawa
Department of Respiratory Medicine, Saitama Cardiovascular and Respiratory Center
Shozaburo Yamaguchi
Department of Respiratory Medicine, Saitama Cardiovascular and Respiratory Center
Koichiro Yoneda
Department of Respiratory Medicine, Saitama Cardiovascular and Respiratory Center
Yousuke Miyahara
Department of Respiratory Medicine, Saitama Cardiovascular and Respiratory Center
Naho Kagiyama
Department of Respiratory Medicine, Saitama Cardiovascular and Respiratory Center
Daido Tokunaga
Department of Respiratory Medicine, Saitama Cardiovascular and Respiratory Center
Fumiaki Aoki
Department of Respiratory Medicine, Saitama Cardiovascular and Respiratory Center
Hiroo Saito
Department of Respiratory Medicine, Saitama Cardiovascular and Respiratory Center
Kazuyoshi Kurashima
Department of Respiratory Medicine, Saitama Cardiovascular and Respiratory Center
Mikio Ubukata
Department of Respiratory Medicine, Saitama Cardiovascular and Respiratory Center
Tsutomu Yanagisawa
Department of Respiratory Medicine, Saitama Cardiovascular and Respiratory Center
Yutaka Sugita
Department of Respiratory Medicine, Saitama Cardiovascular and Respiratory Center
Hiroshi Okita
Department of Dermatology, Dokkyo Medical University
Atsushi Hatamochi
Department of Dermatology, Dokkyo Medical University

Keywords: Ehlers-Danlos syndrome, vascular type, lung, pneumothorax

JOURNAL OPEN ACCESS

2009 Volume 48 Issue 9 Pages 717-722

DOI https://doi.org/10.2169/internalmedicine.48.1818

Details

Abstract

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.

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