Prevalence of Birt–Hogg–Dubé syndrome in patients with apparently primary spontaneous pneumothorax

Pneumothorax is classified “spontaneous pneumothorax” if there is no external force causing it and is classified as “primary spontaneous pneumothorax” (PSP) if there is no underlying lung disease. According to the guidelines of the British Thoracic Society (BTS), “no underlying lung disease” is based on history, physical examination and chest radiography [1]. Birt–Hogg–Dubé syndrome is probably the cause of pneumothorax in 5–10% of primary spontaneous pneumothorax patients The additional participating principal investigators of the Amsterdam BHD working group were Marianne A. Jonker (Dept of Epidemiology and Biostatistics, VU University Medical Center, Amsterdam the Netherlands), Arjan C. Houweling (Dept of Clinical Genetics, VU University Medical Center), Quinten Waisfisz (Dept of Clinical Genetics, VU University Medical Center), Johannes J.P. Gille (Dept of Clinical Genetics, VU University Medical Center), Erik Thunnissen (Dept of Pathology, VU University Medical Center), JanHein T.M. van Waesberghe (Dept of Radiology, VU University Medical Center) and Theo M. Starink (Dept of Dermatology, VU University Medical Center). We are grateful to all included pneumothorax patients who participated in this study.