10 Neurofibromatosis Symptoms

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By christine
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Reviewed: dr. vanta
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  • 1. Neurofibromatosis Fact Sheet. National Institute of Neurological Disorders and Stroke, U.S. Department of Health and Human Services, www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Neurofibromatosis-Fact-Sheet
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Neurofibromatosis is a genetic disorder that causes tumors to grow in the brain, spinal cord or on the nerves. The three types of neurofibromatosis include type 1 or NF1, type 2 or NF2 and schwannomatosis or SWN.

Most tumors are benign but some might develop into cancer. Neurofibromatosis symptoms vary by type and can change as the patient ages. Signs of neurofibromatosis can appear at any age. Individuals with NF1 may have a normal life expectancy despite the diagnosis. However, that's not the case for all types. The most severe body responses occur with schwannomatosis and it can severely impact people's quality of life.1Neurofibromatosis Fact Sheet. National Institute of Neurological Disorders and Stroke, U.S. Department of Health and Human Services, www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Neurofibromatosis-Fact-Sheet

Multiple Birthmarks

NF1 is the most typical neurofibromatosis and the most common features are multiple birthmarks that are over 5mm in diameter in children. For adults and adolescents, the birthmarks are over 15mm. Six or more suggest neurofibromatosis.

These are also referred to as cafe-au-lait spots for the light brown color. Most people see these as natural birthmarks. The marks aren't limited to neurofibromatosis. They also occur in other genetic conditions such as Legius syndrome. Additionally, not all flat, light brown birthmarks are a sign of the genetic disorder. Testing is necessary for an exact diagnosis.

Neurofibromatosis

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