title: [Tuberous sclerosis--symptoms, diagnosis and treatment].
abstract: Tuberous sclerosis (Bourneville-Pringle disease) is an inherited disease with a prevalence rate ranging from 1:10,000 to 1:23,000. It is inherited as an autosomal dominant with a variable gene penetrance. However about 60% of cases represent new mutations. This disease is characterized by a defect in cell migration, proliferation and differentiation in organs like skin, brain, kidneys, heart, lungs and eyes. The mechanism involves formation of hamartoma tumours responsible for the functional impairment of these organs.
authors.affiliation: Klinika Chorób Skórnych i Wenerycznych PAM w Szczecinie.
authors.forename: Sylwia
authors.initials: S
authors.lastname: Farfał
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Marchelek
authors.forename: Grazyna
authors.initials: G
authors.lastname: Dutkiewicz
authors.forename: Jacek
authors.initials: J
authors.lastname: Rózański
authors.forename: Kazimierz
authors.initials: K
authors.lastname: Ciechanowski
authors.forename: Romuald
authors.initials: R
authors.lastname: Maleszka
mesh_terms: D006801:Humans; D015995:Prevalence; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology