Birt-Hogg-Dubé Syndrome: A Large Single Family Cohort

Kate Skolnik; Willis H. Tsai; Kimberly Dornan; Renée Perrier; Paul W. Burrowes; Warren J. Davidson


Respiratory Research. 2016;17(22) 

In This Article


We describe the largest single family cohort of patients with BHD syndrome reported to date. All subjects had cystic lung disease with a significant number experiencing spontaneous pneumothorax. Cyst size and lower lung zone predominant disease were associated with pneumothorax occurrence. Lung function was generally preserved and not affected by a high cyst burden. Given that BHD-associated pneumothoraces may be severe and recurrent, clinicians may consider early intervention and thoracic surgery referral.