BHD-NET Japan (http://www.bhd-net.jp/)

• Published in: JOURNAL OF FAMILIAL TUMORS Vol. 19; no. 1; pp. 24 - 27
• Main Author: Furuya, Mitsuko
• Format: Journal Article
• Language: Japanese
• Published: The Japanese Society for Familial Tumors 2019; 一般社団法人日本遺伝性腫瘍学会; The Japanese Society for Hereditary Tumors
• Subjects: Birt-Hogg-Dubé (BHD) syndrome, fibrofolliculoma, FLCN, kidney cancer, lung cyst; Birt-Hogg-Dubé（BHD）syndrome, fibrofolliculoma，FLCN，kidney cancer，lung cyst
• ISSN: 1346-1052; 2189-6674
• DOI: 10.18976/jsft.19.1_24

Birt-Hogg-Dubé (BHD) syndrome is a genetic disorder characterized by cutaneous fibrofolliculomas, lung cysts and kidney cancers. Affected individuals inherit germline mutations in the folliculin gene （FLCN）, which was identified by Nickerson et al. in 2002. Most individuals have multiple bilateral lung cysts. On the other hand, Japanese patients present with inconspicuous papules that do not lead them to a dermatologist. One third of individuals over 40 years of age develops kidney cancer. Since pathogenic FLCN variants are detectable by sanger sequencing analysis in around 90% of affected family members, definitive diagnosis of BHD syndrome is usually confirmed with genetic testing. We BHD-NET （http://www.bhd-net.jp/） update the latest information of the disease, respond to consultation by physicians, and support the affected families through exchange meetings.