Neurofibromatosis

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Neurofibromatosis

• autosomal dominant inheritance
• tumours form as multiple fleshy nodules
  • arise throughout life
  • significant malignant potential
• type I
  • Von Recklinghausen's disease
  • chromosome 17
• type II
  • chromosme 22
  • bilateral VIIIth nerve tumours
  • no skin, skeletal lesions
  • intracranial / intraspinal tumours common

Examination

• observation
  • skin lesions
    • >5 Café-au-lait spots
    • axillary freckling
    • subcutaneous neurofibromata
    • mollusca fibrose
      • pink, cutaneous fibroma
    • plexiform neuroma
  • skeletal
    • kyphoscoliosis
• Eyes
  • acuity
    • decreased due to optic glioma
  • fundus
    • changes
  • Iris 
    • nodules of Litsch
• Hearing
  • decreased with acoustic neuroma
• Blood pressure
  • increased if 
    • renal artery stenosis
    • Phaechromocytoma

Complications

• tumours (glioma, meningioma, neuroma, neurofibroma)
  • intracranial
  • intraspinal
  • peripheral nerve

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