What question did this study set out to answer?

To highlight the association between recurrent pneumothorax and Birt-Hogg-Dubé syndrome as a diagnostic clue.

May 20, 2026

A40-21 Beyond Bullae: Recurrent Pneumothorax as the First Clue to Birt-Hogg-Dubé Syndrome

Key Points

To highlight the association between recurrent pneumothorax and Birt-Hogg-Dubé syndrome as a diagnostic clue.
Illustrative case of a 57-year-old male with a history of spontaneous pneumothorax, renal mass, and chest imaging showing pulmonary cysts.
FLCN genetic testing and counseling were performed to corroborate the diagnosis.
Clinical evaluations were conducted to consider interventions like pleurodesis.
Birt-Hogg-Dubé syndrome was suspected due to recurrent pneumothorax and the presence of pulmonary cysts.
The case underlines the need for awareness of this syndrome among healthcare providers.
Early identification can prevent complications and facilitate cancer surveillance.

Abstract

Abstract Background Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder caused by pathogenic variants in the FLCN gene. It is characterized by skin fibrofolliculomas, pulmonary cysts with spontaneous pneumothorax, and renal tumors. Due to variable presentation and lack of family history in some cases, BHD is frequently underrecognized. Early identification is critical for guiding genetic counseling, renal cancer surveillance, and prevention of pneumothorax recurrence. Case A 57-year-old male with diabetes and hypertension, and a remote history of two spontaneous pneumothoraxes (1989, 1992), presented with progressive dyspnea over several days. Two weeks prior, he had undergone partial nephrectomy for a right renal mass (pathology pending). Chest imaging revealed a large right pneumothorax with 50% collapse; a chest tube was placed with full re-expansion. Review of prior imaging showed multiple pulmonary cysts incidentally noted on CT abdomen/pelvis. A dedicated CT chest demonstrated numerous bilateral thin-walled cysts and tubular bullae predominantly in the lower lobes. Given the combination of recurrent pneumothorax, pulmonary cysts, and renal tumor, BHD was suspected. The patient, adopted and unaware of his family history, was referred for FLCN genetic testing, genetic counseling, and cardiothoracic evaluation for pleurodesis. Discussion This case highlights the importance of considering BHD in adults presenting with recurrent or spontaneous pneumothorax, particularly when accompanied by cystic lung disease or renal masses. The absence of family history should not preclude the diagnosis. Early recognition allows for targeted cancer surveillance, family screening, and interventions such as pleurodesis to prevent recurrence. Awareness of BHD among pulmonologists and radiologists can facilitate timely diagnosis and prevent life-threatening complications. This abstract is funded by: None

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