Early Signs of Neurofibromatosis - Search
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  1. Also known as: NF
    Content medically reviewed by
    Dr. Rakshith Bharadwajverified specialist
    MD, Internal Medicine
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    Symptoms & Reports
    If you or someone you know is exhibiting symptoms of Neurofibromatosis, seek medical attention immediately.

    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


    Common symptoms and their severity as reported by people on Patientslikeme.

    Symptoms
    Severity Graph
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    (72)
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    (18)
    Last Update : 2024-04-01.
    Seve...
    Mode...
    Mild
    None
    Causes

    • 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

    Prevention

    There are no preventive measures.

    Complications

    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

    Source: Focus Medica . For informational purposes only. Consult a medical professional for advice. Learn more

    People also ask

    What are the symptoms of neurofibromatosis?
    It causes symptoms that may affect your brain, spinal cord, nerves and skin. Symptoms vary and depend on the neurofibromatosis type but can include birthmarks and the growth of usually noncancerous (benign) tumors. You may inherit this condition from your biological family, but up to 50% of cases happen randomly, without any biological history.
    my.clevelandclinic.org/health/diseases/neurofibromatosis
    the fibromyalgia symptoms?
    The symptoms of fibromyalgia include, multiple joint pain, morning stiffness, muscle spasm, chronic headache, fatigue, sleep disturbances, anxiety, bladder disturbances nausea and dysmenorrhea( in women). Presently there is no complete cure for fibromyalgia. It can be managed symptomatically with pain killers and physiotherapy.
    microsoftstart.msn.com/en-us/health/ask-professionals/i…
    How do you know if you have neurofibromatosis type 1?
    Neurofibromatosis type 1 (NF1) usually is diagnosed during childhood. Symptoms are seen at birth or shortly afterward and almost always by age 10. Symptoms tend to be mild to moderate, but they can vary from person to person. Symptoms include: Flat, light brown spots on the skin, known as cafe au lait spots.
    www.mayoclinic.org/diseases-conditions/neurofibromato…
    What does neurofibromatosis look like?
    Neurofibromatosis looks different for each person diagnosed with the condition. Small, round bumps (about 1 centimeter or the size of a pea) may form on your skin. These are neurofibromas. Some people have more than two of these small bumps or one larger skin growth that forms from multiple nerves under their skin (plexiform neurofibroma).
    my.clevelandclinic.org/health/diseases/neurofibromatosis
    How do you know if you have neurofibroma?
    One of the most common early signs of NF-1 are the skin discolorations referred to as “café-au-lait” spots. Because NF-2 tumors may involve the hearing nerve, unexplained hearing loss or ringing in the ears might be an early symptom. Surgery is the most common form of treatment for neurofibroma.
    How do you know if your child has neurofibromatosis?
    Signs of neurofibromatosis type 1 may be present soon after birth, and some signs, such as cafe au lait spots, can be present at birth. Neurofibromas most often appear in children between the age 10 to 15. The signs and symptoms of NF2 and schwannomatosis are rare in children and usually appear in people in their 20s or 30s.
    www.hopkinsmedicine.org/health/conditions-and-disease…
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  2. Neurofibromatosis type 1 - Symptoms and causes - Mayo Clinic

     
  3. Neurofibromatosis | Johns Hopkins Medicine

    WEBSigns of neurofibromatosis type 1 may be present soon after birth, and some signs, such as cafe au lait spots, can be present at birth. Neurofibromas most often appear in children between the age 10 to 15.

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