We present the case of a 73-year-old woman who developed pneumothorax for the first time that was a clinical clue to the diagnosis of Birt-Hogg-Dubé (BHD) syndrome. Although younger onset of pneumothorax is more common in BHD syndrome, the characteristic chest CT findings may contribute to the diagnosis of this disorder in spontaneous pneumothorax of the elderly.
Keywords: genetic diseases; pneumothorax.