Table 1 Clinical characteristics of study population
From: Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China
Characteristics | (n = 50) |
|---|---|
Male/female | 16/34 |
Age at examination-yr | 47.4 ± 11.8 (18–76) |
Pulmonary manifestations | (n = 49) |
Age at onset of pneumothorax-yr | 41.9 ± 10.9 (20–62) |
Cysts on chest CT | 48/49 (98%) |
Pneumothorax | 27/50 (54%) |
Skin manifestations | (n = 47) |
Multiple skin-colored papules | 32/47 (68%) |
FFs and/or TDs confirmed | 3/47 (6%) |
Renal manifestations | (n = 41) |
Cancer | 2/41 (5%) |
AML | 4/41 (10%) |
Family history of pneumothorax | 29/50 (58%) |
FLCN Genetic testing | (n = 45) |
Germline mutation | 44/45 (98%) |