胸部外傷を契機に偶然発見されたBirt-Hogg-Dubé症候群の1例

Birt-Hogg-Dubé Syndrome Incidentally Found at Chest Trauma；Report of a Case

はじめに　Birt-Hogg-Dubé症候群（BHDS）は，気胸を契機に診断されることがほとんどであり，気胸以外で診断される機会はほとんどない．われわれは胸部外傷で搬送された際の胸部CTで特徴的肺囊胞を認め，遺伝子学的に確定診断にいたったBHDSの症例を経験したので報告する．

Birt-Hogg-Dubé syndrome （BHDS） is usually diagnosed at the incidence of pneumothorax. A 65-year-old male fell from the stairs in his house and was injured. Chest computed tomography （CT） revealed fractures of right 1st rib and sternum and hematoma in mediastinum. Irregular shaped pulmonary cyst on the interlobar, mediastinal and diaphragm surface were found by chest CT. White-toned papules were observed from right nosewing to the neck. By biopsies, it was diagnosed fibrofolliculomas. Genetic analysis showed substitution in the folliculin gene confirming the diagnosis of BHDS.