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More Than Just a Pneumothorax: Unmasking Birt-Hogg-Dubé Syndrome Through the Lungs |
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Anagha Joshi, Jairaj Nair, Vandan Patel, Kajal Limbad, Mahak Balani 1. Professor and Head, Department of Radiology, Lokmanya Tilak Medical College, Mumbai, Maharashtra, India. 2. Professor and Head, Department of Respiratory Medicine, Lokmanya Tilak Medical College, Mumbai, Maharashtra, India. 3. Resident, Department of Radiology, Lokmanya Tilak Medical College, Mumbai, Maharashtra, India. 4. Fellow, Department of Radiology, Lokmanya Tilak Medical College, Mumbai, Maharashtra, India. 5. Resident, Department of Radiology, Lokmanya Tilak Medical College, Mumbai, Maharashtra, India. |
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Correspondence Address : Dr. Vandan Patel, Resident, Department of Radiology, Lokmanya Tilak Medical College, Mumbai-400022, Maharashtra, India. E-mail: vandanpatel306@gmail.com |
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| ABSTRACT |  | ||||||
: 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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| Keywords : Cystic lung disease, Fibrofolliculomas, HRCT thorax, Radiology | |||||||
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DOI and Others :
DOI: 10.7860/IJARS/2026/81870.3085
Date of Submission: Jul 07, 2025 Date of Peer Review: Nov 27, 2025 Date of Acceptance: Jan 08, 2026 Date of Publishing: Mar 01, 2026 AUTHOR DECLARATION: • Financial or Other Competing Interests: None • Was informed consent obtained from the subjects involved in the study? Yes • For any images presented appropriate consent has been obtained from the subjects. Yes PLAGIARISM CHECKING METHODS: • Plagiarism X-checker: Jul 08, 2025 • Manual Googling: Dec 27, 2025 • iThenticate Software: Jan 07, 2026 (6%) ETYMOLOGY: Author Origin EMENDATIONS: 6 |
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Case report
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