[Pneumothorax with Birt-Hogg-Dubé Syndrome Diagnosed by Family History:Report of a Case].

ABSTRACT

Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal and predominantly inherited disorder. A 43 year-old woman was admitted to our hospital for right spontaneous pneumothorax and the thoracoscopic pulumonary wedge resection was performed. A chest computed tomography (CT) scan before surgery showed multiple bilatetal thin walled pulmonary cysts predominant to the lower mediastinum side of the lung field. Since her brother had history of pneumothorax with BHD syndrome. Diagnosed by deoxyribonucleic acid (DNA) sequence analysis of his BHD gene, she was diagnosed as BHD syndrome.