[Tuberous sclerosis--symptoms, diagnosis and treatment].
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.
Farfał
Sylwia
S
Klinika Chorób Skórnych i Wenerycznych PAM w Szczecinie.
Marchelek
Małgorzata
M
Dutkiewicz
Grazyna
G
Rózański
Jacek
J
Ciechanowski
Kazimierz
K
Maleszka
Romuald
R
D006801:Humans; D015995:Prevalence; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology