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<p>We report the case of a 72-year-old man referred to cardiothoracic services with a right-sided spontaneous pneumothorax. High-resolution computed tomography (HRCT) revealed extensive bilateral lung cysts and recurrence of the pneumothorax. Further clinical assessment led to a diagnosis of Birt–Hogg–Dubé (BHD) syndrome—a rare genetic condition marked by cystic lung disease, spontaneous pneumothoraces, skin fibrofolliculomas, and an elevated risk of renal tumors. We discuss the thoracic implications of BHD and the utility of uniportal video-assisted thoracoscopic surgery (UVATS) with pleurodesis in recurrent cases. The report underlines the importance of genetic evaluation and long-term surveillance for patients and at-risk relatives. Genetic testing for the FLCN (Folliculin) gene was initiated and results were consistent with Birt–Hogg–Dubé syndrome.</p>

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Not just another pneumothorax: late diagnosis of Birt-Hogg-Dubé syndrome in a geriatric patient

  • 期刊论文

  • 发表日期：

    2026年2月21日

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  • Ahmed Magdy Elmezayen,
  • Amar Nandrha,
  • Mike Kay,
  • May April Oo,
  • Tariq Minhas

摘要

We report the case of a 72-year-old man referred to cardiothoracic services with a right-sided spontaneous pneumothorax. High-resolution computed tomography (HRCT) revealed extensive bilateral lung cysts and recurrence of the pneumothorax. Further clinical assessment led to a diagnosis of Birt–Hogg–Dubé (BHD) syndrome—a rare genetic condition marked by cystic lung disease, spontaneous pneumothoraces, skin fibrofolliculomas, and an elevated risk of renal tumors. We discuss the thoracic implications of BHD and the utility of uniportal video-assisted thoracoscopic surgery (UVATS) with pleurodesis in recurrent cases. The report underlines the importance of genetic evaluation and long-term surveillance for patients and at-risk relatives. Genetic testing for the FLCN (Folliculin) gene was initiated and results were consistent with Birt–Hogg–Dubé syndrome.