title: [Birt-Hogg-Dubé syndrome in a patient with cutaneous symptoms and a c.1429 C > T;p.R477X mutation in exon 12 of the folliculin gene].
abstract: Birt-Hogg-Dubé syndrome is an autosomal dominant genodermatosis characterized by the presence of fibrofolliculomas, renal cancer, pulmonary cysts, and spontaneous pneumothorax. Recently, the folliculin gene responsible for this process has been identified, located on the short arm of chromosome 17. We present the case of a 49-year-old man with multiple whitish papules on the face, neck, and retroauricular area. Histology was compatible with fibrofolliculoma and genetic study showed a pathogenic mutation of the folliculin gene.
authors.affiliation: Servicio de Dermatología, Hospital Clínic, Universidad de Barcelona, Barcelona, España. tressoles8113@hotmail.com
authors.forename: I
authors.initials: I
authors.lastname: Fuertes
authors.forename: J M
authors.initials: JM
authors.lastname: Mascaró-Galy
authors.forename: J
authors.initials: J
authors.lastname: Ferrando
mesh_terms: D004970:Estrone / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012871:Skin Diseases / Q000235:genetics* / Q000473:pathology; D013577:Syndrome
chemical_list: D004970:Estrone