What Is Neurofibromatosis?


Quick Answer

Neurofibromatosis causes tumors to develop on nerve tissue, states Mayo Clinic. It is a genetic disorder that is typically diagnosed in childhood and early adulthood. Neurofibromatosis types are neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis.

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Full Answer

The tumors that neurofibromatosis causes are typically noncancerous but can become cancerous in some cases, explains Mayo Clinic. Symptoms of neurofibromatosis 1 include flat, brown spots on the skin, soft bumps on or under the skin, freckling in the groin or armpits area, learning disabilities and a larger than average head size. Symptoms of neurofibromatosis 2 include poor balance, gradual hearing loss and ringing in the ears. Symptoms of schwannomatosis include painful tumors on the cranial, peripheral and spinal nerves and chronic pain. Complications of neurofibromatosis include visual difficulties, neurological issues, cardiovascular problems, skeletal issues and anxiety concerning appearance.

After a medical history, symptom and family history review, a doctor performs a series of tests to diagnose neurofibromatosis, according to Mayo Clinic. Neurofibromatosis 1 and 2 is mainly diagnosed with a physical examination and imaging tests, and genetic tests diagnose all three types of neurofibromatosis. Neurofibromatosis is treated with monitoring, traditional surgery to remove tumors, stereotactic radiosurgery to treat vestibular schwannomas, auditory brainstem and cochlear implants, and standard cancer therapies.

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