What is it?

Neurofibromatoses are a group of genetic disorders that cause tumors to form on nerve tissue. These tumors can develop anywhere in the nervous system, including the brain, spinal cord and nerves. There are three types of neurofibromatosis: neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2) and schwannomatosis. NF1 is usually diagnosed in childhood, while NF2 and schwannomatosis are usually diagnosed in early adulthood. The tumors in these disorders are usually noncancerous (benign), but sometimes can become cancerous (malignant). Symptoms are often mild. However, complications of neurofibromatosis can include hearing loss, learning impairment, heart and blood vessel (cardiovascular) problems, loss of vision, and severe pain.

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Signs & symptoms

There are three types of neurofibromatosis, each with different signs and symptoms.
Neurofibromatosis 1: is usually diagnosed during childhood. Signs are often noticeable at birth or shortly afterward and almost always by age 10. Signs and symptoms are often mild to moderate, but can vary in severity.
Signs and symptoms include:
- Flat, light brown spots on the skin (cafe au lait spots)
- Freckling in the armpits or groin area
- Tiny bumps on the iris of the eye (Lisch nodules)
- Soft, pea-sized bumps on or under the skin (neurofibromas): These benign tumors usually develop in or under the skin, but can also grow inside the body.
- Bone deformities: Abnormal bone development and a deficiency in bone mineral density can cause bone deformities such as a curved spine (scoliosis) or a bowed lower leg.
- Tumor on the optic nerve (optic glioma)
- Learning disabilities:Impaired thinking skills are common in children who have NF1 but are usually mild.
- Larger than average head size
- Short stature

Neurofibromatosis 2: is much less common than NF1. Signs and symptoms of NF2 usually result from the development of benign, slow-growing tumors in both ears (acoustic neuromas), which can cause hearing loss. Also known as vestibular schwannomas, these tumors grow on the nerve that carries sound and balance information from the inner ear to the brain.
Signs and symptoms generally appear during the late teen and early adult years, and can vary in severity. Signs and symptoms can include: Gradual hearing loss, Ringing in the ears, Poor balance and Headaches. Sometimes NF2 can lead to the growth of schwannomas in other nerves, including the cranial, spinal, visual (optic) and peripheral nerves. People who have NF2 may also develop other benign tumors.

Schwannomatosis: This rare type of neurofibromatosis usually affects people after age 20. Symptoms usually appear between ages 25 and 30. Schwannomatosis causes tumors to develop on the cranial, spinal and peripheral nerves — but rarely on the nerve that carries sound and balance information from the inner ear to the brain. Tumors don't usually grow on both hearing nerves, so people who have schwannomatosis don't experience the same hearing loss as people who have NF2.
Symptoms of schwannomatosis include:
- Chronic pain, which can occur anywhere in the body and can be disabling
- Numbness or weakness in various parts of the body
- Loss of muscle

Diagnosis

Diagnosis includes a review of personal and family medical history and a physical examination (checking the skin for the ‘cafe au lait’ spots, which can help diagnose NF1.
If additional tests are needed to diagnose NF1, NF2 or schwannomatosis, it might be recommended to perform more tests:
- Eye exam
- Hearing and balance exams
- Imaging tests: X-rays, CT scans or MRIs can help identify bone abnormalities, tumors in the brain or spinal cord, and very small tumors. An MRI might be used to diagnose optic gliomas. Imaging tests are also often used to monitor NF2 and schwannomatosis.
- Genetic tests: Tests to identify NF1 and NF2 are available and can be done in pregnancy before a baby is born.

For a diagnosis of NF1, there must be at least two signs of the condition.

Treatment

There isn't a cure for neurofibromatosis, but signs and symptoms can be managed. Generally, the sooner someone is under the care of a doctor trained in treating neurofibromatosis, the better the outcome.
Monitoring: For NF1, it is recommended to perform yearly age-appropriate checkups to:
- Assess the child's skin for new neurofibromas or changes in existing ones
- Check for signs of high blood pressure
- Evaluate the child's growth and development - including height, weight and head circumference - according to growth charts available for children who have NF1
- Check for signs of early puberty
- Evaluate the child for any skeletal changes and abnormalities
- Assess the child's learning development and progress in school
- Obtain a complete eye examination

Medication: Selumetinib (Koselugo) is a treatment for plexiform neurofibroma in children.

Surgery and other procedures: are recommended to treat severe symptoms or complications of neurofibromatosis.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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