Neurofibromatosis - Search
  1.  
  2. Also known as: NF
    A disorder of the nervous system affecting development of nerve cell tissues.
    Condition Highlight
    Urgent medical attention is usually recommended by healthcare providers
    Condition Highlight
    Can be dangerous or life threatening if untreated
    How common is condition?
    Rare (Fewer than 200,000 cases per year in US)
    Is condition treatable?
    Treatments can help manage condition, no known cure
    Does diagnosis require lab test or imaging?
    Requires lab test or imaging
    Time taken for recovery
    Can last several years or be lifelong
    Condition Highlight
    Common for ages 5 and younger
    Condition Highlight
    Family history may increase likelihood
    See more

    Causes

    Verified Expert

    • Neurofibromatosis is caused by genetic mutations that are either inherited or are acquired spontaneously.
    • The disease follows an autosomal dominant pattern of inheritance which means that a child can be affected even if one defective gene is inherited.
    • Mutations (defects) in NF1 gene result in abnormal/no neurofibromin protein which causes NF1. defects in NF2 gene cause abnormality in/loss of protein called merlin leading to NF2 disease. Both these proteins have a role in cell growth regulation.
    • The risk factors include:
    • Family history

    See more

    Symptoms

    Verified Expert
    Seek immediate medical attention if you experience symptoms.

    Symptoms differ in all the three types of Neurofibromatoses.

    Symptoms for NF1 (These are found in childhood)

    • Presence of flat, light brown spots on The skin
    • Freckling in armpits or groin area
    • Tiny bumps on The iris of eye
    • Soft bumps on or under the skin
    • Bone deformities
    • Tumor on optic nerve
    • Learning disabilities
    • Head size larger than average
    • Short Stature

    Symptoms for NF2 (These are found in teenage)

    • Gradual hearing loss
    • Ringing in The ears
    • Poor balance
    • Head aches
    • Numbness and weakness in arms or legs
    • Facial drop
    • Vision problems
    • Symptoms for Schwannomatosis
    • Chronic pain anywhere in the body
    • Numbness or weakness in various parts of body
    • Loss of Muscle

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    Treatment

    Verified Expert

    The condition cannot be cured, but symptoms can be reduced with the following treatments. It includes surgery, chemotherapy and radiation to cure or remove cancerous tumors.

    Medication

    Anticonvulsants: Have nerve-calming qualities that help relieve nerve pain.

    Gabapentin . Pregabalin . Topiramate . Carbamazepine

    Tricyclic antidepressants: Help in treating neuropathic pain.

    Amitriptyline

    Serotonin and norepinephrine reuptake inhibitors (SNRIs): Are a class of anti-depressant drugs. Some drugs, however, are used to treat nerve pain.

    Duloxetine . Tramadol

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    Diagnosis

    Verified Expert
    One or more of these tests may be recommended by your medical provider.
    Diagnosis involves examination of symptoms and detailed information about family history.

    Common tests & procedures

    X-ray: X-ray of bone is taken to detect bone abnormalities or tumors in the brain.

    CT scan: Identify bone abnormalities, tumors in the brain or spinal cord.

    Magnetic resonance imaging (MRI): To detect bone abnormalities, tumors in the brain or spinal cord. MRI provides more details than X-Ray or CT Scan.

    Genetic test: To get the detailed information about NF1 and NF2 genes.

    Biopsy: To check if it is cancerous.

    See more
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  2. Neurofibromatosis type 1 - Symptoms and causes - Mayo Clinic

     
  3. Neurofibromatosis - Wikipedia

  4. Neurofibromatosis: What It Is, Symptoms, Types & Treatment

  5. Neurofibromatosis | Johns Hopkins Medicine

    WEBNeurofibromatosis is a genetic disorder that causes tumors to form along the nerves. Learn about the three types of NF, how they are diagnosed and treated, and the risks of cancer and complications.

  6. Neurofibromatosis - National Institute of Neurological Disorders …

  7. Neurofibromatosis type 1 - Diagnosis and treatment - Mayo Clinic

  8. Neurofibromatosis - StatPearls - NCBI Bookshelf

    WEBNeurofibromatosis is a neurocutaneous disorder characterized by tumors in the nervous system and skin. The most common types of neurofibromatosis are types 1 and 2, both of which are autosomal …

  9. Neurofibromatosis 1 and 2: Symptoms, Treatments, Causes

  10. Neurofibromatosis Type 1 (NF1) | Johns Hopkins …

    WEBNF1 is a genetic disorder that affects the skin, eyes and nervous system. Learn about its symptoms, diagnosis, treatment and genetic testing at the Johns Hopkins Comprehensive Neurofibromatosis Center.

  11. What is NF - Neurofibromatosis Network

    WEBNF is a genetic disorder of the nervous system that causes tumors on the nerves. Learn about the three forms of NF, their causes, effects and treatments from the leading national organization for NF research and …