Tuberous Sclerosis

Question 1

What is tuberous sclerosis?

Answer 1

It is defined as a genetic condition, in which there is development of hamartomas in multiple systems of the body

Question 2

What is the inheritance of tuberous sclerosis?

Answer 2

Autosomal dominant

Question 3

Which two systems of the body are most commonly affected by tuberous sclerosis?

Answer 3

Neurological

Skin

Question 4

Which five other systems can also affected by tuberous sclerosis?

Answer 4

Brain

Lungs

Heart

Kidneys

Eye

Question 5

What are hamartomas?

Answer 5

They are defined as benign neoplastic growths of tissue

Question 6

What is the cause of tuberous sclerosis?

Answer 6

It is related to a mutation of EITHER the hamartin gene or tuberin gene

Question 7

Which chromosome is the hamartin gene located on?

Answer 7

Chromosome 9

Question 8

Which chromosome is the tuberin gene located on?

Answer 8

Chromosome 16

Question 9

What is the function of the hamartin and tuberin genes?

Answer 9

They interact with each other to control the size and growth of cells

Question 10

What is the function of the hamartin and tuberin genes?

Answer 10

They interact with each other to control the size and growth of cells

Question 11

What are the four neurological clinical features associated with tuberous sclerosis?

Answer 11

Developmental Delay

Learning Disabilities

Epilepsy

Glioma Tumours

Question 12

What are the five subcutaneous clinical features associated with tuberous sclerosis?

Answer 12

Ash Leaf Spots

Shagreen Patches

Angiofibromas

Subungual Fibromata

Café-Au-Lait Spots

Question 13

What are ash leaf spots?

Answer 13

They are depigmented areas of skin which are shaped like an ash leaf

These areas fluoresce under UV light

Question 14

What are Shagreen patches?

Answer 14

They are roughened patches of skin over lumbar spine

Question 15

What is another term for angiofibromas?

Answer 15

Adenoma sebaceum

Question 16

What are angiofibromas?

Answer 16

They are small skin coloured papules that occur over the nose and cheeks

Question 17

What are subungual fibromatas?

Answer 17

They are circular painless lumps that grow slowly under the nail bed, and displace it

Question 18

What are cafe-au-lait spots?

Answer 18

They are light brown flat pigmented lesions on skin

Question 19

What are four other clinical features associated with tuberous sclerosis?

Answer 19

Retinal Hamartomas

Rhabdomyomas

Polycystic Kidneys

Lymphangioleiomyomatosis

Question 20

What are retinal hamartomas?

Answer 20

They are dense white areas on the retina

Question 21

What is lymphangioleiomyomatosis?

Answer 21

It is the abnormal growth of smooth muscle cells, which results in the development of multiple lung cysts

Question 22

What are the five clinical features associated with lymphangioleiomyomatosis?

Answer 22

Cough

Dyspnoea

Chest Pain

Haemoptysis

Pneumothorax

Question 23

How does tuberous sclerosis usually present?

Answer 23

In most cases, children present with epilepsy alongside the subcutaneous features associated with tuberous sclerosis

Question 24

How does tuberous sclerosis usually present?

Answer 24

In most cases, children present with epilepsy alongside the subcutaneous features associated with tuberous sclerosis

Question 25

How do we diagnose tuberous sclerosis?

Answer 25

Clinically

There is no investigation required to obtain a definitive diagnosis

Question 26

How do we manage tuberous sclerosis?

Answer 26

We provide symptomatic control, monitor disease progression and treat complications

There is no management options available to treat the underlying disease process or slow down the progression of disease

Question 27

What is a key difference between tuberous sclerosis and neurofibromatosis?

Answer 27

Tuberous sclerosis = retinal hamartomas

Neurofibromatosis = lisch nodules