Full Text of PDF (447k)
Article in Japanese
Abstract
Case Report
A case of Birt-Hogg-Dubé syndrome in a patient with a three-generation family history of pneumothorax
Tsukasa Uedaa Taro Yonedaa Hayato Kobaa Hiroko Moritaa Koichi Nishib Kazuo Kasaharac
aDepartment of Respiratory Medicine, Komatsu Municipal Hospital
bDepartment of Respiratory Medicine, Ishikawa Prefectural Central Hospital
cDepartment of Respiratory Medicine, Kanazawa University Hospital
ABSTRACT
We present the case of an 80-year-old man with a history of pneumothorax. An abnormal shadow was observed during the course of a medical check-up, and multiple cysts were found in both lungs on the chest CT scan. The patient’s daughter and granddaughter also shared a history of pneumothorax. There were no renal tumors or skin lesions characteristic of Birt-Hogg-Dubé (BHD) syndrome, but the family history indicated BHD syndrome. A folliculin (FLCN) gene analysis revealed an insertion mutation in exon 12, and the patient was diagnosed with BHD syndrome. We report a case in which BHD syndrome was diagnosed based on family history and imaging findings from three-generations.
KEYWORDS
Birt-Hogg-Dubé (BHD) syndrome Lung cyst Pneumothorax Folliculin (FLC
Received 30 Jan 2022 ／ Accepted 9 Jun 2022
AJRS, 11(5): 321-326, 2022
Copyright © The Japanese Respiratory Society All Rights Reserved.