Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic
disorder with complete penetrance, that can evolve with hamartomas in multiple
organs, such as skin, central nervous system, kidney and lung. Due to the wide
phenotypic variability, the disease is often not recognized. Tuberous sclerosis
complex affects one in 10,000 newborns and most patients are diagnosed during
the first 15 months of life. The diagnostic criteria for tuberous sclerosis were
reviewed in 2012, at the second International Tuberous Sclerosis Complex
Consensus Conference. The diagnosis is based on genetic criteria, by the
identification of inactivating pathogenic mutation of tumor suppressor genes
TSC1 and TSC2, and clinical criteria, including cutaneous, renal, pulmonary,
cardiac and neurological manifestations. The treatment of tuberous sclerosis
complex consists, mainly, in management of the symptoms caused by hamartomas and
in prevention of organ failure. Multidisciplinary approach is recommended, in
order to obtain better clinical outcomes.
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