[Tuberous sclerosis: diagnostic criteria and new treatment approaches]

With a prevalence of 1 in 6,000 births, tuberous sclerosis is a relatively frequent hamartoma and tumor syndrome inherited as an autosomal dominant trait, which manifests primarily on the skin and in the central nervous system. Decisive factors for morbidity and mortality and thus for the prognosis are the changes in the central nervous system in the form of cortical hamartomas. Treatment for many years consisted solely in using nonspecific symptomatic approaches; dermatological therapy comprised mainly laser or electroacoustic ablation of facial angiofibromas. New models of therapy hinder the pathogenesis of tuberous sclerosis. Various studies provided evidence that the macrolide rapamycin decreases growth of brain and kidney tumors by specific inhibition of mTOR kinase. Synergistic effects were observed in combination therapy with the cytokine IFN-gamma.