What is Tuberous sclerosis?

a rare multisystem genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin

What is the inheritance pattern of Tuberous sclerosis?

autosomal dominant

What are the main clinical features of Tuberous sclerosis?

• seizures
• intellectual disability
• developmental delay
• behavioral problems
• skin abnormalities
• lung disease
• kidney disease

What are the Neurological features of Tuberous sclerosis?

• developmental delay
• epilepsy (infantile spasms or partial)
• intellectual impairment

What are the Cutaneous features of Tuberous sclerosis?

• depigmented 'ash-leaf' spots which fluoresce under UV light
• roughened patches of skin over lumbar spine (Shagreen patches)
• adenoma sebaceum (angiofibromas): butterfly distribution over nose
• fibromata beneath nails (subungual fibromata)
• café-au-lait spots* may be seen