Tuberous sclerosis complex

Abstract

Tuberous sclerosis complex is a genetic disorder with a characteristic development of a benign tumorous growth in various tissues. Clinical picture is very heterogeneous, resulting in difficult diagnosis and unrecognized patients. In this article, we present pathophysiological basis for understanding the clinical picture and the diagnosis of tuberous sclerosis complex. The skin, central nervous system, kidneys and heart are the most commonly affected sites. The disease course is progressive. Although the great majority of lesions are benign, life expectancy and quality of life are affected by their secondary impact. Until recently, the therapy has been only symptomatic, but nowadays the inhibitors of mTOR complex, such as everolimus, are efficient in reducing the growth of tumors.

Keywords

• diagnosis
• physiopathology
• hamartoma
• TOR serine-threonine kinases
• everolimus