Birt-Hogg-Dubé syndrome detected incidentally by asymptomatic bilateral pneumothorax in health screening: a case of a young Japanese woman.

Kentaro Miura,Makoto Kurai,Ryoichi Kondo,Keiko Ishii

doi:10.1186/s40792-015-0014-8

Kentaro Miura, Makoto Kurai + Show 2 more

Open Access

https://doi.org/10.1186/s40792-015-0014-8

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Abstract

Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disease caused by mutations of germline folliculin (FCLN) mapped in the chromosome 17p11.2 region. BHD commonly accompanies renal tumors, fibrofolliculomas, multiple pulmonary cysts, and spontaneous pneumothorax. We report a case of a young Japanese woman in whom asymptomatic bilateral pneumothorax was found incidentally in a health screening, which led to the diagnosis of BHD. She had developed neither renal tumors nor fibrofolliculomas. However, her father, uncle, and aunt also experienced pneumothorax. In Japan, BHD is not yet well known because skin-related symptoms of fibrofolliculomas are sometimes absent unlike in most cases in Europe and the United States. On the basis of this case, we propose that BHD should be considered at the time of pneumothorax examination.

Highlights

Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disease caused by mutations of germline folliculin (FCLN) mapped in the chromosome 17p11.2 region, and it commonly accompanies renal tumors; skin conditions such as fibrofolliculomas, trichodiscoma, and acrochordon; multiple pulmonary cysts; and spontaneous pneumothorax [1,2,3]
We report a case of a young Japanese woman in whom asymptomatic bilateral pneumothorax was found incidentally in a health screening, which led to the diagnosis of BHD, and she experienced no skin-related symptoms
We ruled out LAM or catamenial pneumothorax via histological examination, and we considered the possibility of BHD because the patient was young and a non-smoker with a family history of pneumothorax who presented with multiple cysts throughout the whole lung and experienced repeated pneumothorax

Summary

Background

Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disease caused by mutations of germline folliculin (FCLN) mapped in the chromosome 17p11.2 region, and it commonly accompanies renal tumors; skin conditions such as fibrofolliculomas, trichodiscoma, and acrochordon; multiple pulmonary cysts; and spontaneous pneumothorax [1,2,3]. Case presentation A 25-year-old woman visited our hospital because of bilateral pneumothorax detected on a chest X-ray taken during a health screening (Figure 1). She had neither chest-related symptoms nor a rash on her body or face. A chest computed tomography (CT) scan taken at our hospital showed right-sided pneumothorax as well as almost healed left-sided pneumothorax (Figure 2) It showed multiple cystic lesions throughout both lungs. Because the patient was young and a non-smoker with prominent family history of pneumothorax and multiple cystic lesions were observed throughout her whole lung, we suspected congenital disease and BHD,.

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