Monday, 27 September 2010

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:

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