Neurofibromatosis causes - Search
    • 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

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    Complications

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    Complications of NF1

    • Neurological Problems
    • Skeletal Problems
    • Vision Problems
    • Cardiovascular Problems
    • Hypertension
    • Short stature
    • Large head
    • Breathing Problems
    • Cancer
    • Benign adrenal gland tumor

    Complications of NF2

    • Partial or total deafness
    • Facial nerve damage
    • Vision problems
    • Small benign skin tumors
    • Weakness or numbness in the extremities
    • Multiple benign tumors or spinal tumors

    Complications of Schwannomatosis

    • Debilitating pain requiring surgical treatment

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    Symptoms

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    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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    Diagnosis

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    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.

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    Treatment

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    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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