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Article in Japanese
Abstract
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
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