Neurofibromatosis type 1 Von Recklinghausen Disease

• Facts:
  Autosomal dominant neurocutaneous disorder
  Chromosome 17
• History / PE:
  Eye problems (Lisch nodules, optic gliomas)
  Cafe-au-lait spots, axillary freckles
  Bony lesions, scoliosis
  Learning difficulties
• Notes:
  Optic gliomas present in 15% of patients with NF 1, with slowly progressive unilateral visual loss and dyschromatopsia (may see exopthalmos)
• See Also:
  1) Neurofibromatosis type 2
  2) McCune-Albright syndrome
  3) Tuberous sclerosis
  4) Sturge-Weber syndrome