A case of Ehlers-Danlos syndrome in which lung CT findings contributed to the diagnosis Shinsaku Matsumoto 1,3 1Department of Radiology Keio University School of Medicine Keyword: Ehlers-Danlos症候群 , 肺嚢胞 , 気胸 pp.67-70
Published Date 2020/1/10
DOI https://doi.org/10.18888/rp.0000001112
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Ehlers-Danlos syndrome(EDS)is a heritable connective tissue disorder characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. We report here a case of classical EDS with pulmonary lesions in a woman in her 40s. Computed tomography showed left-sided pneumothorax and enlarged air spaces in bilateral lower lobes. Pneumothorax was refractory and air space enlargement developed within a year in a young adult, suggesting tissue fragility. Whole body examination revealed mild skin hyperextensibility and mild joint hypermobility, and genetic diagnosis revealed gene mutation of COL5A2 which codes type 5 collagen. The diagnosis of classical EDS was confirmed.

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