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Year :2026
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Month :
March-April
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Volume :
15
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Issue :
2
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Page :
RC01 - RC03
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More Than Just a Pneumothorax: Unmasking Birt-Hogg-Dubé Syndrome Through the Lungs
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Correspondence Address :
Anagha Joshi, Jairaj Nair, Vandan Patel, Kajal Limbad, Mahak Balani,
Dr. Vandan Patel,
Resident, Department of Radiology, Lokmanya Tilak Medical College,
Mumbai-400022, Maharashtra, India.
E-mail: vandanpatel306@gmail.com
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Introduction: Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder caused by pathogenic mutations in the FLCN gene located on chromosome 17p12q11.2. It is characterised by cutaneous fibrofolliculomas, pulmonary cysts often associated with spontaneous pneumothorax, and an increased risk of renal neoplasms. The pulmonary features, particularly the pattern and morphology of cysts on CT, are key diagnostic clues in differentiating BHD from other cystic lung diseases. We report a case of a 34-year-old male presenting with dyspnoea and right-sided pneumothorax. Imaging revealed bilateral variable-sized cysts predominantly in the lower lobes, paramediastinal and perifissural locations, with intervening normal lung parenchyma. Dermatological examination showed multiple fibrofolliculomas, while genetic testing identified a heterozygous pathogenic FLCN variant, confirming BHD. The presence of basal lung cysts or pneumothorax with skin lesions should prompt genetic testing at the earliest, as early diagnosis not only helps in timely surveillance of renal lesions but also enables screening and management for at-risk family members.
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