CTICasesBirt-Hogg-Dubé Syndrome
▶ Watch on YouTube — age-restricted, cannot embed here
Imaging findings
Chest CT in a patient with a history of renal cell carcinoma and ovarian cancer demonstrates multiple thin-walled, oblong, and subpleural lung cysts, several of which are located in the lower lobes and along the fissures and bronchovascular bundles.
Key takeaways
Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant genetic disorder caused by mutations in the FLCN gene, characterized by benign skin tumors (fibrofolliculomas), renal tumors (most commonly chromophobe renal cell carcinoma or oncocytoma), and pulmonary cysts. The lung cysts are classically subpleural, basal-predominant, lenticular or multi-septated, and carry a high risk of spontaneous pneumothorax.
AI-assisted summary — may contain errors. Verify against the source video. Learn more
More from this webinar
- Hypertrophic Cardiomyopathy with Chordal Systolic Anterior Motion (SAM)Congenital
- Anomalous Left Main Coronary Artery with Intramural CourseCongenital
- Congenitally Corrected Transposition of the Great Arteries (L-TGA)Congenital
- Light-Chain Deposition Disease (LCDD) in Sjogren's SyndromeMetabolic
- Solitary Fibrous Tumor of the PleuraNeoplastic
- Tracheal Bronchus supplying Azygos Lobe with Top Pulmonary Vein VariantCongenital
- Bilateral Congenital Anomalies: Left Sequestration with CPAM and Right Basilar Systemic ArterializationCongenital
- Central Bronchial Carcinoid mimicking Swyer-James-MacLeod SyndromeNeoplastic
See all cases from October 9, 2015 →
Related Congenital cases
- Intrapulmonary Bronchogenic Cyst (with Hemorrhage/Infection)
- Combined Partial Anomalous Pulmonary Venous Return and Congenital Bronchial Atresia
- Combined Congenital Defect: Bronchial Atresia and Partial Anomalous Pulmonary Venous Drainage
- Aberrant Pulmonary Venous Anatomy (No Anomalous Drainage)
- Apical Hypertrophic Cardiomyopathy with Apical Aneurysm
- Inferior Sinus Venosus Atrial Septal Defect (ASD)