Tuberous sclerosis (TS)

Question 1

Tuberous sclerosis is a genetic condition that causes features in multiple systems - what is the characteristic feature?

Answer 1

Hamartomas

Question 2

What are hamartomas?

Answer 2

Benign neoplastic growths of the tissue that they origin from

Question 3

Name 3 areas that hamartomas commonly affect

Answer 3

• Skin
• Brain
• Lungs
• Heart
• Kidneys
• Eyes

Question 4

Tuberous sclerosis is caused by mutations in one of two genes. Name 1 of these genes and on what chromosome are they located on

Answer 4

• TSC1 gene on chromosome 9
• TSC2 gene on chromosome 16

Question 5

Name 2 skin signs of TS, and what are they

Answer 5

• Ash leaf spots: depigmented areas of skin shaped like an ash leaf
• Shagreen patches: thickened, dimpled, pigmented patches of skin
• Angiofibromas: small skin coloured or pigmented papules that occur over the nose and cheeks
• Subungual fibromata: fibromas growing from the nail bed. They are usually circular painless lumps that grow slowly and displace the nail
• Cafe-au-lait spots: light brown “coffee and milk” coloured flat pigmented lesions on the skin
• Poliosis: isolated patch of white hair on the head, eyebrows, eyelashes or beard

Question 6

Name a neurological feature of TS

Answer 6

• Epilepsy
• Learning disabilities
• Developmental delays

Question 7

Name 2 other features of TS

Answer 7

• Rhabdomyomas
• Gliomas
• Polycystic kidneys
• Lymphangioleiomyomatosis (abnormal growth in smooth muscle cells, often affecting the lungs)
• Retinal hamartomas

Question 8

What is the classical presentation of TS?

Answer 8

Child presenting with epilepsy found to have skin features of tuberous sclerosis

Question 9

How is it managed?

Answer 9

Supportive with monitoring and treating complications such as epilepsy