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Table 2 Characteristics of BHD patients

From: Birt-Hogg-Dubé syndrome in apparent primary spontaneous pneumothorax patients; results and recommendations for clinical practice

 

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