Bullous lung disease and neurofibromatosis type-1

Monaldi Arch Chest Dis. 2012 Jun;77(2):105-7. doi: 10.4081/monaldi.2012.159.

Abstract

Lung interstitial diseases and bullae are described as possible complications of neurofibromatosis type-1 (NF-1), a genetic disorder inherited as a autosomal-dominant trait. We report the case of a 16-year-old male non-smoker with NF-1, who presented with pneumothorax caused by ruptured lung bullae. The case of this young patient, successfully treated by video-assisted thoracoscopic resection of bullae, supports the concept that pulmonary alterations may be part of the NF-1 syndrome, rather than as an unrelated complication.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Diagnosis, Differential
  • Humans
  • Lung / abnormalities*
  • Lung / diagnostic imaging
  • Lung / surgery
  • Lung Diseases / diagnosis
  • Lung Diseases / etiology*
  • Lung Diseases / surgery
  • Male
  • Neurofibromatosis 1 / complications*
  • Neurofibromatosis 1 / diagnosis
  • Thoracic Surgery, Video-Assisted
  • Tomography, X-Ray Computed