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  • Neurofibromatosis, type 1 (NF1)
  • Von Recklinghausen’s disease

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  • 237.70 Neurofibromatosis unspecified
  • 237.71 Neurofibromatosis type 1 von Recklinghausen’s disease
  • 237.72 Neurofibromatosis type 2 acoustic neurofibromatosis
  • 237.73 Schwannomatosis
  • 237.7 Neurofibromatosis
  • 237.79 Other neurofibromatosis

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  • Q85.00 Neurofibromatosis, unspecified
  • Q85.01 Neurofibromatosis, type 1
  • Q85.02 Neurofibromatosis, type 2
  • Q85.03 Schwannomatosis
  • Q85.09 Other neurofibromatosis

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Description

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  • Group of neoplastic disorders resulting from an autosomal dominant genetic disorder or chromosomal mutation
  • Type 1 is the most common with hyperpigmentation spots (café-au-lait spots) present at birth, tumors of skin, and progressive decline of nerves, muscle, and bones due to defect of chromosome 17
  • Type 2, acoustic neuromas, due to defect of chromosome 22

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Essentials of Diagnosis

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  • At least 2 of the following needed for diagnosis
    • At least 7 café-au-lait spots less than 5 mm prior to puberty and more than 15 mm after puberty
    • More than 2 neurofibromas
    • Optic glioma
    • More than 2 Lisch nodules (tumors on the iris)
    • Freckling in axilla or inguinal areas
    • Bony lesions
    • Immediate family member with type 1 neurofibromatosis
  • Acoustic neuromas (type 2) involve tumors on inner ear nerves, brain, skull, spinal cord; including schwannomas, gliomas, and meningiomas

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General Considerations

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  • Type 1 involves dermal and epidermal benign tumors that affect myelin (neurofibromas) of peripheral nerves that can erode bone or cause compression of the nerve including optic nerve gliomas
  • Acoustic neuromas result in hearing and balance deficits, as well as difficulty swallowing, and problems with eye movements and speech

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Demographics

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  • Neurofibromatosis type 1 accounts for 95% of all cases
  • 1:3000 births2
  • 50% risk in siblings3
  • 40% of those affected develop complications3

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Signs and Symptoms

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  • Café-au-lait spots (type 1)
  • 62% seizures3
  • 40% cognitive impairment3
  • 15% hypertension3
  • 15% optic glioma3
  • Skin tumors
  • Lisch nodules
  • Large head
  • Scoliosis
  • Strabismus (crossed eyes)
  • Amblyopia (lazy eye)
  • Cranial nerve VIII tumors (type 2)
  • Seizures
  • Precocious puberty
  • Difficulty with balance
  • Tinnitus
  • Vertigo
  • Pain
  • Numbness, tingling, weakness of toes or fingers
  • Speech deficits
  • Attention deficit hyperactivity disorder (ADHD)

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Functional Implications

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  • Deafness
  • Falls due to balance deficits
  • Pain resulting in decreased function

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Possible Contributing Cause

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  • Autosomal dominant genetic disorder or mutation of chromosome 17 (type 1) or chromosome 22 (type 2)

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Differential Diagnoses2

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  • McCune-Albright syndrome
  • Noonan syndrome
  • LEOPARD syndrome
  • Bannayan-Riley-Ruvalcaba syndrome (BRRS)

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Laboratory Tests

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  • Genetic testing
  • Amniocentesis
  • Chorionic villus sampling

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Imaging

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  • MRI
  • X-ray
  • PET scan
  • CT scan

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Medical Procedures

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  • Surgical removal of tumors or cataracts
  • Radiation and/or chemotherapy, if tumor malignant

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