Author(s): Leung AK, Robson WL
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Abstract Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder characterized by the potential for hamartoma formation in almost every organ. The inheritance is autosomal dominant with almost complete penetrance but variable expressivity. The two gene loci that code for TSC are TSC1, located on chromosome 9q34, and TSC2 on 16p13.3. TSC complex may affect the skin, central nervous system, kidneys, heart, eyes, blood vessels, lungs, bone, and gastrointestinal tract. The diagnosis of TSC is based on the identification of hamartomas in more than one organ system. Treatment should be symptomatic and organ specific. A multidisciplinary management approach is necessary.
This article was published in J Pediatr Health Care
and referenced in Journal of Molecular and Genetic Medicine