MRCP revision battle 22.2: Neurofibromatosis

Neurofibromatosis is an autosomal dominant condition which causes lesions in the skin, nervous system and skeleton.

It is quite complex so below are just a few key points to learn for MRCP:


There are 2 types:


Neurofibromatosis 1 = von Recklinghausen's disease

• chromosome 17, 1:2500
• features include:
• cafe au lait spots
• axillary/inguinal freckling
• lisch nodules in iris (seen in >90%)
• perpheral neurofibromas
• optic gliomas (2%)
• osseous lesions
• may have low IQ or renal artery stenosis

Neurofibromatosis 2

• chromosome 22, rarer than NF 1
• Features:
• bilateral acoustic neuromas - sensorineural hearing loss is first sign
• cafe au lait spots
• juvenile posterior subcapsular lenticular opacity = a form of cataract

For the really keen:

Further information from the neurological institute

So having got one complex, rare and unsatisfying battle out of the way lets jump straight into another...