Tuberous Sclerosis

Question 1

what is it?

Answer 1

Known medically as tuberculous sclerosis is an uncommon hereditary illness that primarily affects the skin, brain, eyes, heart, kidneys, and lungs. An estimation of 1 in 6,000 live babies is thought to have TSC

Question 2

etiology

Answer 2

Tuberous sclerosis is caused by mutations in either the TSC1 or TSC2 genes, which are
responsible for regulating cell growth and proliferation. These mutations lead to the
development of benign tumors, known as hamartomas, in different organs of the body

Question 3

key characteristics

Answer 3

multi-system genetic disease - Seizures, difficulties with cognition and
impaired intellectual development, and unique skin anomalies including hypomelanotic macules
and face angiofibroma are common in people with tuberous sclerosis - plaque/rash (can be
pink to a reddish-brown) spots in a butterfly distribution across the cheeks and nose. Shagreen
patch - a flesh-coloured patch of orange peel-textured skin on the lower back. Ash leaf spots –
patches of white skin in the shape of a leaf are a common symptom and can be detected by
healthcare professionals. As well as autism, and kidney disease

Question 4

Support needs

Answer 4

Medical surveillance
Counseling for behavioural issues
IEPs