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Tuberous sclerosis complex : nuovi approcci diagnostici e prospettive di ricerca nella patogenesi tumorale : dottorato di ricerca in fisiopatologia, farmacologia, clinica e terapia delle malattie metaboliche : tesi di dottorato

Gualandri, Lorenzo <1970- >

Tesi o dissertazioni - 2009

Abstract
Tuberous Sclerosis Complex (TSC) is a genetic disorder with an autosomal dominant trait full penetrance and variable expression. In this syndrome exist, interestingly, two different aspects: the non-proliferative pattern expressed by the hypomelanotic macules and the hyperproliferative feature represented by numerous skin and visceral lesions. The aim of this study was to consider these so different features of TSC as a starting point for a clinical-diagnostic purpose and for a metabolic research about the mechanisms involved in the pathogenesis of this syndrome. The clinical research considered the hypomelanotic macules. They are one of the major clinical criteria for the diagnosis and they are the earlier skin manifestation of TSC. Sometimes patients may express a mild of TSC, showing only few hypomelanotic patches. A non-invasive approach for leading to a right diagnosis could be a modified starch-iodine test. The procedure is able to put in evidence the sweat production, represented by black dots, inside the hypomelanotic macules [...]
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