Table 2.
Characteristics of BHD patients
| BHD patient 1 | BHD patient 2 | BHD patient 3 | |
|---|---|---|---|
| Age | 51 | 26 | 38 |
| Gender | Female | Female | Female |
| Number of pneumothoraxes | 1 | 1 | 6 |
| Age at first pneumothorax in years | 40 | 22 | 21 |
| Side of pneumothorax | Right | Right | Bilateral |
| Family history of pneumothorax | Yes (in 8 family members) | Yes (in 8 family members) | No |
| Family history of renal cell carcinoma | No | No | Yes (maternal aunt) |
| Smoking | Past smoker | Past smoker | Current smoker |
| Skin examination | Suspect for fibrofolliculomas | Suspect for fibrofolliculomas | Suspect for fibrofolliculomas |
| Moment of chest CT | In this study | Already available | Already available |
| Result of chest CT | 3 cysts | 3 cysts | 9 cysts Emphysema |
| FLCN pathogenic variant | c.1301-7_1304del; 1323delinsGA | c.1301-7_1304del; 1323delinsGA | c.1408_1418del |