Tuberous sclerosis is a dominantly inherited genetic disease in which tumors (z. B. hamartomas) develop in several organs. Diagnosis requires mapping of the affected organ. Treatment is symptomatic or if CNS tumors grow, everolimus. Patients must be monitored regularly to look for complications.

Tuberous sclerosis (TS) is a neurocutaneous syndrome that occurs in 1 in 6,000 children; 85% of cases involve mutations in TSC1 gene (9q34), which controls the production of Hamartin, or TSC2 gene (16p13.3), which controls the production of Tuberin. These proteins act as growth suppressors. If one parent has the disorder, children have a risk of 50%, also suffer. However, new mutations are responsible for two-thirds of cases.

Tuberous sclerosis is a dominantly inherited genetic disease in which tumors (z. B. hamartomas) develop in several organs. Diagnosis requires mapping of the affected organ. Treatment is symptomatic or if CNS tumors grow, everolimus. Patients must be monitored regularly to see .. tuberous sclerosis (TS) after complications is a neurocutaneous syndrome that occurs in 1 in 6,000 children; 85% of cases involve mutations in TSC1 gene (9q34), which controls the production of Hamartin, or TSC2 gene (16p13.3), which controls the production of Tuberin. These proteins act as growth suppressors. If one parent has the disorder, children have a risk of 50%, also suffer. However, new mutations are responsible for two-thirds of cases. (Sometimes called tuberous sclerosis complex) patients with Ttuberöser sclerosis have tumors or abnormalities, to manifest itself in different ages and in different organs, including the brain heart eyes kidney lung appearance CNS tubers interrupt the neural circuitry, creating a developmental delay and cognitive impairment caused are, and they can also cause seizures, including infantile spasms. Sometimes the tubers grow and obstruct CSF flow from the lateral ventricles, resulting in a unilateral hydrocephalus. Sometimes the tubers of a malignant degeneration gliomas undergo, especially subependymal giant cell astrocytoma. Cardiac fibroids can develop what sometimes causes heart failure in newborns is prenatally. These fibroids tend to disappear over time, and usually cause no symptoms later in childhood or adulthood. Kidney tumors (Angiolipomen) may develop in adults and polycystic kidney disease can develop at any age. The kidney disease can cause hypertension. Lung lesions, such as lymphangioleiomyomatosis can develop, especially in adolescent girls. Symptoms and complaints The manifestations vary widely in their severity. Usually skin lesions are present. Shagreen patch © Springer Science + Business Media var model = {thumbnailUrl: ‘/-/media/manual/professional/images/411_tuberous-sclerosis_slide_45_springer_high_de.jpg?la=de&thn=0&mw=350’ imageUrl: ‘/ – / media / ? manual / professional / images / 411_tuberous-sclerosis_slide_45_springer_high_de.jpg lang = en & thn = 0 ‘, title:’ Shagreen patch ‘, description:’ u003Ca id = “v37898015 ” class = “”anchor “” u003e u003c / a u003e u003cdiv class = “”para “” u003e u003cp u003eDiese illustration shows a raised Connective Tissue that looks like orange peel

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