Tuberous sclerosis

Question 1

What is tuberous sclerosis?

Answer 1

A genetic condition that causes developments of hamartomas (benign tumours) in multiple of the body systems.

Question 2

What are common sites affected by tuberous sclerosis?

Answer 2

• skin
• brain
• lungs
• heart
• kidneys
• eyes

Question 3

What mutations cause tuberous sclerosis?

Answer 3

Either in
- TSC1 gene on chromosome 9
- TSC2 gene on chromosome 16

Question 4

What are some skin signs of tuberous sclerosis?

Answer 4

• ash leaf spots - areas of depigmentation
• shagreen patches - thickened, dimples, pigmented patches of skin
• subungual fibroma
• cafe-au-lait spots
• poliosis - isolated patch of white hair

Question 5

What are some neurological features of tuberous sclerosis?

Answer 5

• seizures
• learning difficulties and developmental delay
• brain or spinal cord tumours (gliomas)

Question 6

What is a mnemonic to remember some of the key features of tuberous sclerosis?

Answer 6

ASHLEAF

A - ashleaf spots
S - Shagreens patches
H - heart rhabdomyomas
L - lung lymphangioleiomyomatosis (LAM)
E - epilepsy from cortical tumours
A - angiomyolipoma in kidney
F - facial angiofibromas