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Case Reports
. 2019 Sep 6;12(9):e231039.
doi: 10.1136/bcr-2019-231039.

Birt-Hogg-Dubé syndrome presenting with spontaneous pneumothorax and extensive pulmonary cysts in the absence of skin lesions or renal pathology

Kartik Kumar  1 , Clare Ross  1
Affiliations
Case Reports

Birt-Hogg-Dubé syndrome presenting with spontaneous pneumothorax and extensive pulmonary cysts in the absence of skin lesions or renal pathology

Kartik Kumar et al. BMJ Case Rep. .

Abstract

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.

Keywords: cardiothoracic surgery; genetics; pneumothorax; radiology; respiratory medicine.

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1
Axial (top) and coronal (bottom) views of HR CT chest scan demonstrating a left pneumothorax and widespread pulmonary cysts.
See this image and copyright information in PMC

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References

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