Novel folliculin gene mutations in Polish patients with Birt-Hogg-Dube syndrome.

ABSTRACT:

Background

Birt-Hogg-Dubé syndrome (BHDS) is a rare, autosomal dominant, inherited disease caused by mutations in the folliculin gene (FLCN). The disease is characterised by skin lesions (fibrofolliculomas, trichodiscomas, acrochordons), pulmonary cysts with pneumothoraces and renal tumours. We present the features of Polish patients with BHDS.

Materials and methods

The first case of BHDS in Poland was diagnosed in 2016. Since then, 15 cases from 10 families have been identified. Thirteen patients were confirmed via direct FLCN sequencing, and two according to their characteristic clinical and radiological presentations.

Results

BHDS was diagnosed in 15 cases (13 women and 2 men) from 10 families. The mean ages at the time of first pneumothorax and diagnosis were 38.4

SUBMITTER: Radzikowska E 

PROVIDER: S-EPMC8258955 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature