[Tuberous sclerosis--symptoms, diagnosis and treatment]. / Stwardnienie guzowate--klinika, diagnostyka, leczenie.

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.

[Classic form of Bourneville-Pringle disease in a daughter and appearance of hypopigmented macules of her father's skin]. / Klasyczna postac choroby Bourneville'a-Pringle'a u córki i wystepowanie plam odbarwieniowych na skórze u ojca.

Tuberous sclerosis (Bourneville-Pringle disease) is an genetic autosomal dominant disease, but in over 50% cases there are new spontaneous mutations. During this disease visceral hamartomas do tend to develop in various tissues. Earlier it was considered that in order to set a diagnosis the knowledge of Vogt's triade was required (angiofibroma, epilepsia, mental retardation). But new not typical forms occur, that do not contain all the above mentioned three elements. The phenomenon is connected with the appearance of a new mutations of the gene or with a variable gene penetrance. In these study case we present a 21-year old patient who shows the fully blown symptoms of Vogt's triad and her father who only has hypopigmented macules on his back.