EC Pulmonology and Respiratory Medicine

Case Series Volume 14 Issue 11 - 2025

Birt-Hogg-Dubé Syndrome: How to Consider Diagnosis

MA Makarova1,2,3, GE Baimakanova1,4*, OA Denisenko4 and EN Pirogova4

1Federal State Autonomous Educational Institution of Higher Education “NI Pirogov Russian National Research Medical University” of the Ministry of Health of the Russian Federation, Russia

2Federal State Budgetary Institution “Pulmonology Scientific Research Institute” Under Federal Medical and Biological Agency of Russian Federation, Russia

3State Budgetary Health Care Institution of the City of Moscow "City Clinical Hospital Named After SS Yudin of Moscow Department of Health", Russia

4State Budgetary Healthcare Institution of Moscow "Moscow Clinical Scientific and Practical Center Named After AS Loginov of the Moscow Department of Health, Russia

*Corresponding Author: GE Baimakanova, State Budgetary Healthcare Institution “Moscow Clinical Scientific and Practical Center Named After A.S. Loginov” of the Moscow Healthcare Department, Moscow, Russia.
Received: September 15, 2025; Published: October 14, 2025



There are 2 clinical cases of Birt-Hogg-Dubé syndrome. Patients had skin manifestations of the disease for many years, that were hereditary. Later, lung cysts were diagnosed on chest computed tomography (CT) due to an acute clinical situation. A rare diffuse cystic lung disease was suspected, which was definitively established as a result of a molecular genetic blood test of the folliculin gene and skin elements biopsy. Birt-Hogg-Dubé syndrome is the rare and complicated disorder. The lung biopsy in such patients does not lead to a definitive diagnosis. Thus it is essential to raise awareness among doctors of all specialties for early recognition and proper monitoring of these patients.

 Keywords: Lung Cysts; Pneumothorax; Folliculin Gene; Folliculin - FLCN; Fibrofolliculoma; Trichodiscoma; Birt-Hogg-Dubé Syndrome; Kidney Tumor

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GE Baimakanova., et al. “Birt-Hogg-Dubé Syndrome: How to Consider Diagnosis”. EC Pulmonology and Respiratory Medicine  14.11 (2025): 01-07.

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