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Pneumothorax and the biology of Birt-Hogg-Dubé syndrome
  1. Stefan J Marciniak1,
  2. Simon R Johnson2
  1. 1 Medicine, University of Cambridge, Cambridge, UK
  2. 2 Respiratory Medicine, Respiratory Biomedical Research Centre and Biodiscovery Institute, University of Nottingham, Nottingham, UK
  1. Correspondence to Professor Simon R Johnson, Respiratory Medicine, University of Nottingham, Nottingham NG7 2RD, UK; simon.johnson{at}nottingham.ac.uk

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Individuals with pneumothoraces are frequently divided into young patients with the so-called primary spontaneous pneumothorax and older patients with lung disease causing secondary pneumothoraces. In truth, the younger patients may also have underlying lung disease either acquired through smoking, particularly cannabis, or inherited. Ten per cent of individuals presenting with apparently primary pneumothoraces will have a family history of pneumothorax, indicating a large heritable component.1 The most common genetic diagnosis in patients with familial pneumothoraces is Birt-Hogg-Dubé syndrome (BHD), an autosomal dominant condition caused by mutations of the FLCN gene encoding the protein folliculin. Two articles in this edition of Thorax address different aspect of BHD biology with potential implications for the diagnosis and management of these patients.2 3

Folliculin is so named because its deficiency can cause fibrofolliculomas to form. These hamartomas of the skin can aid diagnosis of BHD. Mutation of FLCN can also cause renal cell carcinomas to develop in up to a third of patients which if not treated early can be lethal. The diagnosis of BHD can often be made clinically based on a family history of pneumothoraces and/or renal cancer, dermatological examination revealing fibrofolliculomas and other skin lesions, and characteristic cross-sectional imaging of the thorax with predominantly basal cysts. Confirmation of the …

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Footnotes

  • Twitter @MarciniakLab

  • Contributors Both authors wrote the editorial.

  • 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.

  • Patient consent for publication Not required.

  • Provenance and peer review Commissioned; internally peer reviewed.

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