Abstract
BackgroundThe diagnosis of patients with Birt–Hogg–Dubé (BHD) syndrome is always delayed (even for more than 10 years). Improving the understanding and diagnosis of this disease is vital for clinicians and radiologists. In this study we presented the chest computed tomography (CT) findings of BHD syndrome and offered suggestions for BHD cases with spontaneous pneumothorax.MethodsTwenty-six BHD patients from 11 families (10 men, 16 women; mean age: 46 ± 12 years, 20–68 years) were included. The clinical features of the patients included pneumothorax, renal lesions, and skin lesions. Twenty-three patients underwent chest CT imaging. The cyst condition of each patient derived from reconstructed chest CT imaging was recorded, including the cyst number, size, volume, pattern, and distribution.ResultsPneumothorax occurred in 54% (14/26) of patients. Among them, 43% (6/14) had pneumothorax more than twice. However, typical skin and renal lesions were absent. Four patients had renal hamartoma. CT showed that 23 (100%) patients had lung cysts. Pulmonary cysts were bilateral and multiple, round, irregular, or willow-like. And 93.6% of the large cysts (long-axis diameter ≥ 20 mm) were under the pleura, and near the mediastinum and spine. The long-axis diameter, short-axis diameter and volume of the largest cysts were associated with the occurrence of pneumothorax (all P < 0.05).ConclusionsChest CT imaging can reveal some characteristic features of BHD syndrome. The occurrence of pneumothorax in BHD patients is closely related to their pulmonary cystic lesions.
Highlights
The diagnosis of patients with Birt–Hogg–Dubé (BHD) syndrome is always delayed
Spontaneous pneumothorax is a clinical emergency often characterized by chest tightness and dyspnea
This study aimed to investigate the characteristics of lung lesions of BHD patients and the relationship between the occurrence of pneumothorax and lung cyst features through chest computed tomography (CT) images in these patients
Summary
The diagnosis of patients with Birt–Hogg–Dubé (BHD) syndrome is always delayed (even for more than 10 years). In this study we presented the chest computed tomography (CT) findings of BHD syndrome and offered suggestions for BHD cases with spontaneous pneumothorax. Spontaneous pneumothorax is a clinical emergency often characterized by chest tightness and dyspnea. Yang et al BMC Medical Imaging (2022) 22:22 work, patients often suffer recurrent pneumothorax, and surgeons tend to make more efforts in treating patients and pay less attention to the underlying causes of the disease. This study aimed to investigate the characteristics of lung lesions of BHD patients and the relationship between the occurrence of pneumothorax and lung cyst features through chest computed tomography (CT) images in these patients. We propose a chest CT examination, not just a chest X-ray, should be conducted for BHD patients and the investigation needs to be extended to family members
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