title: Genetic study in a case of birt-hogg-dubé syndrome.
abstract: Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominantly inherited disorder characterized by multiple trichodiscomas, fibrofolliculomas, and acrocordons. There is also an increased risk of developing renal neoplasms and lung cysts/spontaneous pneumothorax. We present a 43-year-old man with multiple, 2~4 mm sized, dome-shaped, and skin-colored papules on his cheek and neck. On the basis of clinical finding and histopathologic examination on the cheek lesion, it was diagnosed as multiple trichodiscomas. Subsequently, molecular analysis revealed a mutation in the folliculin gene. We report a rare case of BHDS with a proved gene mutation.
authors.affiliation: Department of Laboratory Medicine, School of Medicine, Chosun University, Gwangju, Korea.
authors.forename: Geon
authors.initials: G
authors.lastname: Park
authors.forename: Hae Ryun
authors.initials: HR
authors.lastname: Kim
authors.forename: Chan Ho
authors.initials: CH
authors.lastname: Na
authors.forename: Kyu Chul
authors.initials: KC
authors.lastname: Choi
authors.forename: Bong Seok
authors.initials: BS
authors.lastname: Shin