MRCP revision battle 22.3: Tuberous sclerosis

This is going to be a very unsatisfying battle because tuberous sclerosis is rare and complex and essentially to grasp it properly goes far beyond what is required for MRCP, so please excuse my poor attempt at summarising some of the details which may be MRCP-relevant, particularly the skin manifestations...



Tuberous sclerosis is a rare, complex autosomal dominant condition which causes multiple benign tumours.


Features include:

1. cutaneous features
• ash leaf spots (appear under UV light)
• shagreen patches
• adenoma sebaceum
• subungal fibromata
• cafe au lait spots
2. neurological features
• epiplesy
• low IQ
3. other features
• retinal haematoma
• gliomas
• renal cysts

For the really keen:

Information sheet from the Institute of Neurological Disorders

Now lets go on to the thankfully less complex topic of Fanconi anaemia...