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Condition/Disorder Synonyms

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  • Neurofibromatosis, type 1 (NF1)

  • Von Recklinghausen's disease

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ICD-9-CM Codes

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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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ICD-10-CM Codes

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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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Preferred Practice Pattern1

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Key Features

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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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Clinical Findings

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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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Means of Confirmation or Diagnosis

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Laboratory ...

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