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Table 1 Demography and clinical manifestations of patients (n = 31) and asymptomatic members (n = 74)

From: Genetic insight into Birt–Hogg–Dubé syndrome in Indian patients reveals novel mutations at FLCN

Patients (n = 31)

Demography

Mean age ± SD (range in years)

49 ± 15.4, (18–87)

Males

58% (n = 18)

Females

41.9% (n = 13)

Smoking habit (> 10 years)

22% (n = 7)

History of tuberculosis

16% (n = 5)

BHDS diagnostic criteria

Number of patients*

Patients with lung cysts or PSP

96% (n = 30)

Patients with skin fibrofolliculomas

35% (n = 11)

Patients with renal cysts/carcinoma (chromophobe)

9.6% (n = 3)

Patients having 1st degree relative with similar respiratory phenotype

64% (n = 20)

Asymptomatic family members

n = 74

Mean age ± SD (range in years)

36 ± 19.8 (7–88)

Males

58% (n = 43)

Females

41.8% (n = 31)

Smoking habit (> 10 years)

1.3% (n = 1)

History of tuberculosis

6.75% (n = 5)

BHDS diagnostic criterion (except respiratory or dermal manifestation)

Asymptomatics with renal cysts/carcinoma**

2.7% (n = 2)

  1. *Some of the patients had more than one phenotype
  2. **Two individuals from family F7 only presented renal cell carcinoma, but were not clinically evaluated as BHDS. They were third degree relatives of the index patient, therefore they were considered as asymptomatic related members of the index patient