肺野の画像所見が診断の契機となったEhlers-Danlos症候群の1例

A case of Ehlers-Danlos syndrome in which lung CT findings contributed to the diagnosis

Ehlers-Danlos症候群は全身性に結合組織の脆弱性を示す遺伝性疾患である。今回，難治性の気胸を合併し，肺野のCT所見が診断の契機となった古典型Ehlers-Danlos症候群の1例を経験したので報告する。

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.