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Doctor insights on: Symptoms Of Neurofibromatosis Type 1

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Help! Is it possible to have a lot of cafe au lait spots and not have neurofibromatosis?

Help! Is it possible to have a lot of cafe au lait spots and not have neurofibromatosis?

Possible: NIH diagnostic criteria for NF1 with two or more of following features:1)6 or more café-au-lait macules over 5 mm in diameter prepubertal individuals over 15 mm in greatest diameter in postpubertal..2) 2or more neurofibromas or one plexiform neurofibroma.3)Freckling in armpit or groin areas4)Optic glioma (optic nerve tumor)5) > 2 Lisch nodules(iris of eye)6)typical bone lesions 7)1deg relative nf1 ...Read more

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Dr. Gerald Mandell
160 doctors shared insights

Neurofibromatosis (Definition)

Neurofibromatosis is a genetic condition characterized by caf_ au lait spots, which are pigmented patches of skin, and benign ...Read more


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My son has neurofibromatosis type 1 and he is only 2 years old. What symptoms can I expect?

My son has neurofibromatosis type 1 and he is only 2 years old. What symptoms can I expect?

NF 1 is caused by : mutations of the NF gene, 17q11.2. Clinical course varies widely depending largely on location & size of brain, skin, eye & other tumors. Initial evaluations by a geneticist, ped. neurologist, ped. ophthalmologist, developmental/behavioral pediatrician. & Early Intervention, http://www.dds.ca.gov/EarlyStart/home.cfm., guide management. Learning Disabilities & ADHD are common. See www.ctf.org. ...Read more

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Can neurofibromatosis type 1 progress to neurofibromatosis type 2?

Can neurofibromatosis type 1 progress to neurofibromatosis type 2?

NO : Tow distinct gene mutations. Neurofibroma nf i & nf ii are both inhirted tppe i will show cutaneous, neurological and ortho malformations.Tend to be non cancerous nf ii is less frequent ( i in 40000 ) less skin lesions more neuroligical tumors, like maningiomas, bil aucoatic neuromas, schiwanomas, gliomas is part of misme syndrome. ...Read more

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What is the life expectancy for people with neurofibromatosis type 1?

Hugely variable: No two cases are alike, and the illness is modified by other genes. One of the board members of one of my medical schools was a successful and popular physician who had the illness. Best wishes. ...Read more

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What do you suggest if my son has neurofibromatosis type 1 and hi is only 2years old what can I expect ?

What do you suggest if my son has neurofibromatosis type 1 and hi is only 2years old what can I expect ?

See genetics special: Since you are on the internet at this site, I'm sure you have already educated yourself about the risks of learning disabilities, vision issues, cancer, high blood pressure, seizures, skin tumors etc. The complications can be very diverse, and many children have limited issues. A genetics specialist would be better suited to discuss this with you, and direct you to the appropriate specialist ...Read more

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Would neurofibromatosis type 1 disqualify me from donating sperm to a sperm bank?

Would neurofibromatosis type 1 disqualify me from donating sperm to a sperm bank?

Probably: As you know, neurofibromatosis type 1 (nf1) can affect some people mildly, but in others it can cause serious birth defects. The chance that a sperm donor might pass the nf1 mutation to his biological child is 50% for each pregnancy. This would probably be considered an excessively high risk, so i suspect that sperm (and egg) donors with confirmed nf1 would not be invited to donate. ...Read more

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What to do if I have neurofibromatosis but I ain't show if it's type 1 of type 2 does anyone know how 2 find out?

What to do if I have neurofibromatosis but I ain't show if it's type 1 of type 2 does anyone know how 2 find out?

Physician for help: Neurofibromatosis,inherited,with varying involvement from mild to severe.Neurofibroma is benign tumor that originates from the nerve cells.Tumors usually arise from nerves in or under skin.Type1 usually appears in children with brown flat skin spots, freckling in armpits, and soft tumors under skin and sometimes bone deformity.Type 2 usually brain tumors,vestibular schwannomas,acoustic neuromas. ...Read more

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I had neurofibromatosis type ii, i feel numbness right above knee ocationally one day after cycling , could it be ligament tore?I had muscleache there

I had neurofibromatosis type ii, i feel numbness right above knee ocationally one day after cycling , could it be ligament tore?I had muscleache there

Consult physician: Probably related to exercise endeavor. However consult your physician.About 50% of patients develop spinal lesions.40% of the spinal lesions are symptomatic. Spinal tumours separated in two groups. Intramedullary lesions in spinal tissue belong to spinal astrocytomas or ependymomas. Extramedullary lesions in space between the surface of spinal cord & bony wall of canal, schwannomas & meningiomas. ...Read more

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I have chiari and neurofibromatosis both type 1, with a neurofibroma around c7. My headaches are daily and pretty intense. Is surgery a good option?

I have chiari and neurofibromatosis both type 1, with a neurofibroma around c7. My headaches are daily and pretty intense. Is surgery a good option?

If true chiari pain: Typical headache in chiari i patients is occipital pain with coughing, sneezing, lifting, etc.).Have to differentiate between primary headaches such as migraines or tension pain, and headaches due to this typical posterior fossa syndrome.“chiari” headaches may coexist with migraine headaches, complicating treatment.Frequent coexistence of musculoskeletal neck pain.Need good neurologist to sort out. ...Read more