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Respiratory medicine
Correlation of classic history, imaging and pathology with novel genetics in Birt-Hogg-Dubé syndrome
  1. Zachary Haynes1,
  2. Steven D Nathan2,
  3. Shambhu Aryal2 and
  4. Alan Nyquist2
  1. 1Pulmonary and Critical Care, Walter Reed National Military Medical Center, Bethesda, Maryland, USA
  2. 2Inova Fairfax Hosp, Falls Church, Virginia, USA
  1. Correspondence to Dr Zachary Haynes; zacharyahaynes{at}gmail.com

Abstract

A spontaneous pneumothorax may be the heralding manifestation of diffuse cystic lung disease (DCLD). Historically, these diagnoses were differentiated by unique clinical, radiographic and tissue pathology characteristics. With recent advancements in genomics, several forms of DCLD can now be diagnosed through genetic testing and patients can thereby avoid undergoing an invasive lung biopsy. We present a case of a young patient with recurrent spontaneous pneumothoraces associated with a rare DCLD, Birt-Hogg-Dubé syndrome, that exemplifies the manifestations of this disease through classic history, imaging and pathology, along with the diagnostic utility of novel genotypic technology in the modern era.

  • Respiratory medicine
  • Interstitial lung disease

https://doi.org/10.1136/bcr-2024-262177

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    Footnotes

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: ZH, AN, SA, SDN. The following authors gave final approval of the manuscript: ZH, AN, SA, SDN. ZH is the guarantor of this manuscript.

    • 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.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests SDN has received consulting fees from United Therapeutics, Merck, Riovant, Insmed, Horizon Pharma, Avalyn Pharma and Boehringer Ingelheim, and lecture fees from United Therapeutics and Boehringer Ingelheim. SA has received consulting fees from CareDx, Natera, Zambon pharmaceuticals and Boehringer Ingelheim. ZH and AN have no competing interests to disclose.

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