Summary: | Neurofibromatosis type 1 (NF1) is a genetic disorder that affects the skin and the neurological, ocular and skeletal systems. Many are unaware of the extent of pulmonary involvement, including lung cysts and emphysematous bullae, which enhances the risk of secondary spontaneous pneumothorax (SSP). We report the case of an 18-year-old male with NF1 who presented with acute dyspnoea and chest pain due to a right-sided pneumothorax caused by the rupture of lung apical bullae. The patient received supplemental oxygen and a chest tube of 18F was inserted, with a complete resolution of the pneumothorax. He was discharged on the third day of hospital stay.
This case highlights the importance of considering SSP as a possible clinical manifestation and complication of NF1. Early recognition and appropriate management of this condition can prevent serious complications and improve patient outcomes.
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