Tuberous Sclerosis Flashcards
What is tuberous sclerosis?
It is defined as a genetic condition, in which there is development of hamartomas in multiple systems of the body
What is the inheritance of tuberous sclerosis?
Autosomal dominant
Which two systems of the body are most commonly affected by tuberous sclerosis?
Neurological
Skin
Which five other systems can also affected by tuberous sclerosis?
Brain
Lungs
Heart
Kidneys
Eye
What are hamartomas?
They are defined as benign neoplastic growths of tissue
What is the cause of tuberous sclerosis?
It is related to a mutation of EITHER the hamartin gene or tuberin gene
Which chromosome is the hamartin gene located on?
Chromosome 9
Which chromosome is the tuberin gene located on?
Chromosome 16
What is the function of the hamartin and tuberin genes?
They interact with each other to control the size and growth of cells
What is the function of the hamartin and tuberin genes?
They interact with each other to control the size and growth of cells
What are the four neurological clinical features associated with tuberous sclerosis?
Developmental Delay
Learning Disabilities
Epilepsy
Glioma Tumours
What are the five subcutaneous clinical features associated with tuberous sclerosis?
Ash Leaf Spots
Shagreen Patches
Angiofibromas
Subungual Fibromata
Café-Au-Lait Spots
What are ash leaf spots?
They are depigmented areas of skin which are shaped like an ash leaf
These areas fluoresce under UV light
What are Shagreen patches?
They are roughened patches of skin over lumbar spine
What is another term for angiofibromas?
Adenoma sebaceum
What are angiofibromas?
They are small skin coloured papules that occur over the nose and cheeks
What are subungual fibromatas?
They are circular painless lumps that grow slowly under the nail bed, and displace it
What are cafe-au-lait spots?
They are light brown flat pigmented lesions on skin
What are four other clinical features associated with tuberous sclerosis?
Retinal Hamartomas
Rhabdomyomas
Polycystic Kidneys
Lymphangioleiomyomatosis
What are retinal hamartomas?
They are dense white areas on the retina
What is lymphangioleiomyomatosis?
It is the abnormal growth of smooth muscle cells, which results in the development of multiple lung cysts
What are the five clinical features associated with lymphangioleiomyomatosis?
Cough
Dyspnoea
Chest Pain
Haemoptysis
Pneumothorax
How does tuberous sclerosis usually present?
In most cases, children present with epilepsy alongside the subcutaneous features associated with tuberous sclerosis
How does tuberous sclerosis usually present?
In most cases, children present with epilepsy alongside the subcutaneous features associated with tuberous sclerosis
How do we diagnose tuberous sclerosis?
Clinically
There is no investigation required to obtain a definitive diagnosis
How do we manage tuberous sclerosis?
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
What is a key difference between tuberous sclerosis and neurofibromatosis?
Tuberous sclerosis = retinal hamartomas
Neurofibromatosis = lisch nodules
