title: Two Japanese cases of birt-hogg-dubé syndrome with pulmonary cysts, fibrofolliculomas, and renal cell carcinomas.
abstract: Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant inherited disease caused by a germline mutation in the folliculin gene mapped in the region of chromosome 17p11.2. BHD predisposes the patient to cutaneous fibrofolliculomas (FFs), pulmonary cysts (PCs), and renal cell carcinoma (RC). Here, we present two cases of BHD in Japanese patients. One patient was a 37-year-old female, and the other a 35-year-old male. Each of the patients was affected by all three symptoms of BHD. Both patients had unremarkable FFs, asymptomatic PCs, and asymptomatic RC. The presence of RC was revealed by abdominal ultrasonic examination. We also summarized the data from 62 Asian cases of BHD from the available literature and found that their FFs were unremarkable. In addition, the proportion of BHD patients with FF is smaller for Asian patients than it is for Caucasian patients. We also found that it is rare for BHD patients in Asia to show all three symptoms of BHD. Careful inspection of the skin as well as skin biopsies are important for the early detection of BHD cases in Asia.
authors.affiliation: Department of Dermatology, Osaka University Graduate School of Medicine, Suita, Japan.
authors.forename: Yukako
authors.initials: Y
authors.lastname: Murakami
authors.affiliation: Department of Dermatology, Osaka University Graduate School of Medicine, Suita, Japan.
authors.forename: Mari
authors.initials: M
authors.lastname: Wataya-Kaneda
authors.affiliation: Department of Dermatology, Osaka University Graduate School of Medicine, Suita, Japan.
authors.forename: Mari
authors.initials: M
authors.lastname: Tanaka
authors.affiliation: Department of Dermatology, Osaka University Graduate School of Medicine, Suita, Japan.
authors.forename: Aya
authors.initials: A
authors.lastname: Takahashi
authors.affiliation: Department of Urology, Osaka University Graduate School of Medicine, Suita, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Tsujimura
authors.affiliation: Department of Respiratory Medicine, Osaka University Graduate School of Medicine, Suita, Japan.
authors.forename: Koji
authors.initials: K
authors.lastname: Inoue
authors.affiliation: Department of Urology, Osaka University Graduate School of Medicine, Suita, Japan.
authors.forename: Norio
authors.initials: N
authors.lastname: Nonomura
authors.affiliation: Department of Dermatology, Osaka University Graduate School of Medicine, Suita, Japan.
authors.forename: Ichiro
authors.initials: I
authors.lastname: Katayama
keywords: Birt-Hogg-Dubé syndrome; Fibrofolliculoma; Pulmonary cyst; Renal cell carcinoma
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