一般社団法人日本呼吸器学会 公式サイト
日本呼吸器学会英文誌 Respiratory Investigation
日本呼吸器学会誌 増刊号 学術講演会プログラム 抄録集 検索用
日本呼吸器学会誌 増刊号 学術講演会プログラム 抄録集 全文PDF

Abstract

Full Text of PDF Full Text of PDF (675k)
Article in Japanese

Case Report

A case of Birt-Hogg-Dubé syndrome with multiple lung cysts and skin lesions

Taisuke Isono  Mizuki Yuasa  Mayuko Tani  Koji Kurokawa  Masaru Nishitsuji  Koichi Nishi 

Department of Respiratory Medicine, Ishikawa Prefectural Central Hospital

ABSTRACT

A 70-year-old woman was admitted to our hospital with a main complaint of cough. Chest-computed tomography revealed a right pneumothorax and multiple pulmonary cysts. She had no family history of pneumothorax. Based on the characteristic features of her pulmonary cysts and facial skin lesions, Birt-Hogg-Dubé (BHD) syndrome was suspected. Folliculin genotyping revealed an FLCN mutation (c.1597_1598del in exon14) and the diagnosis of BHD syndrome was confirmed. Only one Caucasian BHD syndrome patient with c.1597_1598del in exon14 has been reported to date. To identify the genotype–phenotype correlation in this mutation, further cases need to be collected.

KEYWORDS

Birt-Hogg-Dubé syndrome  Pulmonary cyst  Pneumothorax  Folliculin gene 

Received 20 Dec 2017 / Accepted 5 Apr 2018

AJRS, 7(4): 276-280, 2018

Google Scholar