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June 12, 2026BMJ Case Reports

Birt–Hogg–Dubé syndrome: a hidden genetic cause of recurrent pneumothorax in a non-smoker

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Authors

SASupriya AdiodyVSVishnu Narayanan SARAustin Raj

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Overview

Case report demonstrates BHD syndrome causing recurrent pneumothorax in a non-smoker, suggesting need for early diagnosis.

Key Points

  • To highlight Birt–Hogg–Dubé (BHD) syndrome as a potential cause of recurrent pneumothorax, especially in non-smokers.
  • Case report of a non-smoking male in his 60s with recurrent left-sided spontaneous pneumothorax.
  • Thoracic imaging and histopathology were conducted to examine pulmonary cysts and confirm diagnosis.
  • Genetic analysis identified a pathogenic variant in the FLCN gene.
  • The patient experienced recurrent pneumothorax and underwent bullectomy and pleurodesis with an uneventful recovery.
  • High-resolution CT revealed bilateral pulmonary cysts and a left upper lobe bulla.
  • Genetic testing confirmed BHD syndrome through the identification of a c.1285delC variant in the FLCN gene.

Cite This Study

Adiody et al. (2026) studied this question.

synapsesocial.com/papers/6a2ba4a18101cf8926f03062https://doi.org/10.1136/bcr-2026-273149
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