title: Birt-hogg-dubé syndrome, a rare case in Korea confirmed by genetic analysis.
abstract: Simple benign tumors can present as part of a syndrome with substantial mortality. Fibrofolliculomas are benign skin tumors most often associated with the Birt-Hogg-Dubé syndrome (BHDS). The most life-threatening complication of this syndrome is renal cancer and other major features include multiple lung cysts and spontaneous pneumothorax. We present the case of a 54 year-old man with multiple flesh-colored papules on his face confirmed histologically as fibrofolliculomas. He had a history of recurrent pneumothorax and chest computed tomography showed multiple lung cysts. To confirm the diagnosis of BHDS, we conducted gene analysis that revealed a single nucleotide duplication in the folliculin (FLCN) gene (Exon 11, C.1285dupC). BHDS confirmed by the FLCN gene mutation is rarely reported in Korea. Appropriate investigation is recommended whenever a patient with benign skin tumors is encountered.
authors.affiliation: Department of Dermatology, College of Medicine, Korea University, Seoul, Korea.
authors.forename: Won Woong
authors.initials: WW
authors.lastname: Shin
authors.forename: Yoo Sang
authors.initials: YS
authors.lastname: Baek
authors.forename: Tae Seok
authors.initials: TS
authors.lastname: Oh
authors.forename: Young Soo
authors.initials: YS
authors.lastname: Heo
authors.forename: Soo Bin
authors.initials: SB
authors.lastname: Son
authors.forename: Chil Hwan
authors.initials: CH
authors.lastname: Oh
authors.forename: Hae Jun
authors.initials: HJ
authors.lastname: Song