title: [New mutation in the Birt Hogg Dube gene].
abstract: Patients with Birt-Hogg-Dube syndrome have an increased risk of developing hamartomas of the pilosebaceous unit, renal tumors of various types, lung cysts, and spontaneous pneumothorax. We present the case of a 54-year-old woman with a long history of whitish papules in the central region of the face and a family history of similar lesions. Biopsy and genetic study revealed a new mutation of the gene involved in Birt-Hogg-Dube syndrome.
authors.affiliation: Servicio de Dermatología, Complejo Asistencial de León, León, España. leticiasempau@gmail.com
authors.forename: L
authors.initials: L
authors.lastname: Sempau
authors.forename: I
authors.initials: I
authors.lastname: Ruiz
authors.forename: A
authors.initials: A
authors.lastname: González-Morán
authors.forename: X
authors.initials: X
authors.lastname: Susanna
authors.forename: T V O
authors.initials: TV
authors.lastname: Hansen
mesh_terms: D058249:Birt-Hogg-Dube Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree