29 June 2025
: Case report
Differential Diagnosis and a Novel Mutation in Birt-Hogg-Dubé Syndrome: Insights from 2 Cases
Challenging differential diagnosis, Unusual setting of medical care, Rare disease
Lingfang Tu ACE 1, Yuan Ye BEG 1, Jianya Zhou CF 1, Zhijie Pan AD 1*DOI: 10.12659/AJCR.947530
Am J Case Rep 2025; 26:e947530

Figure 3 Chest imaging findings demonstrated the presence of multiple lung cysts with or without pulmonary pneumothoraxChest X-ray showed pneumothorax on the left side of the lung (A) and chest HRCT showed sparsely-distributed, thin-walled lung cysts in the lower lobes, with a large amount of pneumothorax at the left hemithorax and mild pneumothorax at the right hemithorax (B, C) of a 57-year-old Chinese woman, and subsequential chest X-ray (D) and chest HRCT performed after treatment of the pneumothorax (E, F). Chest HRCT demonstrated lung cysts in the subpleural (G, H) and basilar medial regions (I) of a 58-year-old Chinese woman. (White arrows indicate pulmonary pneumothorax, and red arrows indicate cystic lesions of the lungs).