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10.3390/app11010093 452

10.3109/1061186X.2010.511224 25 Garca-RoaM.Del Carmen Vicente-AyusoM.BobesA

doi: 10.1210/jcem.87.7.8449

These could include: Imaging tests, like X-rays, computerized tomography (CT) scans, or magnetic resonance imaging (MRI) to look for tumors or bone changes Genetic testing, to confirm a diagnosis or help make a diagnosis if symptoms are unclear NF1 diagnosis To receive a diagnosis of NF1, you must have at least two of the following features: Six or more cafe-au-lait spots Two or more neurofibromas or one or more plexiform neurofibromas (a nerve that has become thick and misshapen due to the abnormal growth of cells that cover it) Freckling in your armpit or groin Optic glioma (tumor in your eye nerve) Two or more Lisch nodules A curved shinbone A parent with NF1 A gene variant associated with NF1 on genetic testing NF2-related schwannomatosis diagnosis To be diagnosed with NF2, you must have one of the following: Tumors on the hearing nerves of both ears The same gene changes in two separate NF2-related tumors Two major criteria or two minor and one major criteria from the following lists: Major criteria Vestibular schwannoma on one side First-degree relative other than a sibling with NF2-related schwannomatosis Two or more meningiomas (tumors in the membranes that cover your brain and spinal cord) Sign of NF2 in unaffected tissue, like your blood Minor criteria Schwannoma Ependymoma (tumor in a tissue of your central nervous system) Meningioma Cataracts Schwannomatosis diagnosis Your doctor could diagnose you with schwannomatosis if you're 30 or older and have: Two schwannoma tumors somewhere other than your skin, and one was confirmed by biopsy (tissue sample) No inner ear tumor No known NF2 gene mutation or relative with NF2-SWN or one schwannoma confirmed by biopsy and a close family member who meets the criteria for schwannomatosis Finding Expert Care NF is a rare condition

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