Pneumothoraces in Birt-Hogg-Dubé syndrome compared to smoking related blebs

摘要

While most studies into Birt-Hogg-Dube (BHD) syndrome have investigated the prevalence of pneu-mothorax among FLCN mutation carriers (estimated between 24 and 38%), probabilistically, given the rare, albeit probably underestimated prevalence of BHD in the general population, idiopathic pneumo-thorax remains the most prevalent cause of pneumo-thorax in young subjects. We acknowledge the interesting study by Ren et al. where 9.8% of individuals with spontaneous pneumothorax (SP) tested for a pathogenic mutation showed mutation of FLCN. This study, however, should be confirmed.