Table 1

Reported cases of pneumothorax in patients with neurofibromatosis type 1 (NF1)

Ayed et al19Engdahl et al9Gangadi et al20Nardecchia et al21Nguyen et al10Satar et al17
Clinical featuresCafé-au-lait macules and spontaneous pneumothoraxCafé-au-lait macules, soft tissue masses, and spontaneous pneumothoraxNeurofibromas and spontaneous pneumothoraxCafé-au-lait macules and spontaneous pneumothoraxCafé-au-lait macules, inguinal freckling, neurofibromas, pheochromo-cytoma, and spontaneous pneumothoraxAxillary freckling, café-au-lait macules, bilateral Lisch nodules, neurofibromas, first-degree relative with NF1, mixed-type hearing loss, and spontaneous pneumothorax
RadiologyApical, paraseptal and parenchymal lung bullae, paraseptal emphysema, apical pleural thickness, and subpleural nodulesSpinal and paraspinal tumoursCentrilobular emphysema, subpleural thin-walled lung cysts, bilateral basal reticular opacities, basal linear atelectasis, and subcutaneous nodules on the chest wallBilateral apical lung bullae and emphysemaAsymmetric pulmonary oedema, paraseptal and centrilobular emphysema, ground glass opacities, and pneumatocelesAir cysts in upper lobes
Smoking statusNon-smokerN/ASmoker (50 pack years)Non-smokerSmoker (33 pack years)Smoker

  • The PubMed search for NF1 and pneumothorax gave four additional hits. These were not included due to other languages than English, German or French.

  • N/A, not applicable.