Neurofibromatosis (NF)

 

  1. NF1 characterised by multiple café au lait spots, inguinal/axillary freckling and multiple neurofibromas
  2. Wide range in severity of symptoms
  3. NF2 characterised by bilateral vestibular schwannomas; may include gradual hearing loss, balance
    problems and tinnitus
  4. Autosomal dominant pattern of inheritance; 50% of cases due to sporadic mutation
  5. Genetic testing NF1
  6. Not necessary for diagnosis after birth
  7. Prenatal genetic testing possible only when the family specific gene mutation is known
  8. Genetic testing NF2
  9. Presymptomatic genetic testing is available to blood relatives of individuals in whom a mutation
    has been identified.
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