胸部異常影を契機に発見された血管型Ehlers-Danlos症候群の1例

A case of vascular Ehlers-Danlos syndrome found incidentally on a chest radiograph during routine health check-up

Ehlers-Danlos症候群（Ehlers-Danlos syndrome：EDS）は全身の結合組織の脆弱性をきたす遺伝性疾患である。そのサブタイプの1つである血管型EDSは，大動脈解離や消化管穿孔など重篤な合併症をきたし，予後不良である。今回，胸部異常陰影を契機に早期に診断に至った血管型EDSの1例を経験したので報告する。

We report a case of a man in his early twenties diagnosed with vascular Ehlers-Danlos syndrome as a result of abnormal findings in chest imaging. In a routine health check-up, a chest radiograph incidentally revealed a pneumothorax and multiple nodules, some with cavities. A subsequent CT scan showed pneumothorax, multiple nodules with cavity, ground-glass opacities around nodules, thin-walled cysts, emphysema, and linear opacities extending to the pleura. All these imaging features are characteristic of vascular Ehlers-Danlos syndrome. Surgical lung biopsies were performed, and the pathological examination revealed lung tissue fragility, which is an essential finding of vascular Ehlers-Danlos syndrome. Genetic testing was later conducted, confirming the diagnosis.