Clinical

Syndromes: Tuberous sclerosis

Our series about conditions with common symptoms that constitute a syndrome looks at tuberous sclerosis

Our series about conditions with common symptoms that constitute a syndrome looks at tuberous sclerosis

Characteristics

Tuberous sclerosis is characterised by the development of non-cancerous (benign) tumours that can develop on different parts of the body. The most commonly affected areas are the brain, skin, kidneys, heart, eyes and lungs (Northrup et al 2013). Classically it presents with skin changes and the development of epilepsy before the age of five.

Cause

Tuberous sclerosis is a rare genetic condition. It is caused by mutations in either the TSC1 or TSC2 gene (DiMario et al 2015). In about three quarters of cases the genetic mutation occurs for no apparent reason, where there are no other family members affected. In the remaining quarter of cases the cause

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