Neurofibromatosis

Etiology

  • Genetic d/o
  • Autosomal dominant, though can have variable expression (ie presentation and symptoms variable)
  • Types 1 (see below) and 2 (less common than 1; associated w/hearing loss and balance problems from acoustic schwannoma)

Risk Factors

  • Family history

Symptoms

  • Development of progressive sub-cutaneous growths or nodules in skin from young age; usually painless, though can have symptoms related to local compression/nerve irritation
  • Can transform into neurosarcoma (MPNST), with symptoms (pain, rapid growth) based on site of metastases (lung, liver, other deeper structures)
  • Cognitive problems, motor/sensory dysfunction, seizures can sometimes occur

Physical Exam Findings

  • Nodules
  • Cafe Au Lait spots
  • Axillary freckling
  • Lisch nodules: raised brown spots (from hamartomas) of iris; dont affect vision
  • Organ dysfunction and findings (e.g. lung, liver, bones) if malignant transformation and mets

Links