Birt-Hogg-Dube syndrome in Korean: clinicoradiologic features and long term follow-up.

ABSTRACT:

Background/aims

Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder that is characterized by skin fibrofolliculomas, pulmonary cysts, and renal tumors. The objective of this study was to describe the features of Korean patients with BHD syndrome.

Methods

Clinical data were retrospectively reviewed in 12 patients (10 confirmed by direct sequencing of the folliculin (FLCN) gene and two confirmed by clinical diagnosis) diagnosed from 2004 to 2016 at Asan Medical Center, Seoul, South Korea. Criteria proposed by the European BHD consortium were used for diagnosis.

Results

The median follow-up was 52 months. The mean age was 41.3 years and 66.7% were female. Eight patients (66.7%) had a history of pneumothorax, which was recurrent in 75%. Skin lesions were d

SUBMITTER: Lee JH 

PROVIDER: S-EPMC6610189 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature