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Case report
Birt-Hogg-Dubé syndrome presenting with spontaneous pneumothorax and extensive pulmonary cysts in the absence of skin lesions or renal pathology
  1. Kartik Kumar and
  2. Clare Ross
  1. Department of Respiratory Medicine, St Mary’s Hospital, Imperial College Healthcare NHS Trust, London, UK
  1. Correspondence to Dr Kartik Kumar, kartik.kumar{at}


Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition which classically manifests with skin lesions such as fibrofolliculomas, pulmonary cysts that predispose to spontaneous pneumothorax and an increased risk of developing renal cell carcinoma. We describe the case of a patient who presented with a spontaneous pneumothorax on a background of multiple lung cysts, in the absence of cutaneous fibrofolliculomas and renal tumours. A germline mutation in the folliculin FLCN gene was subsequently identified, confirming BHD syndrome. Our case highlights the importance of considering a broad differential diagnosis for the cause of a spontaneous pneumothorax in the presence of unexplained cystic lung disease and emphasises the value of maintaining a high index of clinical suspicion for inherited causes of pneumothoraces.

  • pneumothorax
  • respiratory medicine
  • genetics
  • cardiothoracic surgery
  • radiology
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  • Contributors KK and CR were both directly involved in the clinical care of the described case. KK and CR both planned the format of the article. KK drafted the initial manuscript. CR critically revised the manuscript for content. KK and CR both approved the version of the manuscript that was submitted for publication.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Obtained.

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