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Doctor insights on: Is There Any Difference Between Neurofibromatosis 1 And Neurofibromatosis 2

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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
165 doctors shared insights

Neurofibromatosis (Definition)

A genetic condition characterized by cafe au lait spots, which are pigmented patches of skin, and benign ...Read more


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Is there any difference between neurofibromatosis 1 and neurofibromatosis 2?

Etiology: Neurofibromatosis (nf) 1 is called von recklinghouse, caused by single gene disorder on chromosome 17, causes non-cancerous lumps. Nf 2 also called central nf is a mutation of merlin in chromosome 22q12, 10% of all nf and causes bilateral acoustic tumors. ...Read more

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What is the difference between neurofibromatosis1 and neurofibromatosis 2?

Etiology: Nf 1 also called von recklinhausen, caused by single gene disorder on chromosome 17 and causes non cancerous lumps. Nf 2 also called central neurofibromatosis caused by mutation of merlin in chromosome 22q12. 10% of all nf and causes bilateral acoustic tumors. ...Read more

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What is the infant mortality rate from neurofibromatosis 1?

Poor prognosis: Congenital generalized (disseminated) neurofibromatosis (detected prenatally) is associated with poor prognosis, with mortality rate of 92%. ...Read more

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What is the infant mortality rate from neurofibromatosis 1?

What is the infant mortality rate from neurofibromatosis 1?

Poor prognosis: Congenital generalized (disseminated) neurofibromatosis (detected prenatally) is associated with poor prognosis, with mortality rate of 92%. ...Read more

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Please help! what is the infant mortality rate of neurofibromatosis 1?

Please help! what is the infant mortality rate of neurofibromatosis 1?

Depends amt. of nf: Congenital generalized (disseminated) neurofibromatosis (detected prenatally) is associated with a poor prognosis, with a mortality rate of 92%. Survival rates for patients detected before and after birth were 28% and 62%.However most cases of nf are focal and not disseminated without evidence of increased infantile mortality rate. In people with nf the overall decrease in life span is about 8 yrs. ...Read more

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Would a diagnosis of neurofibromatosis 1 be a disqualifier for being a living kidney donor?

Would a diagnosis of neurofibromatosis 1 be a disqualifier for being a living kidney donor?

No: As you are not transmitting genetic disease as in sperm donor , if you are healthy and your own health is not at risk , kidney donation is permissible ...Read more

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Is it normal for optic nerve tumors to cause impairment in vision (neurofibromatosis 1)?

Is it normal for optic nerve tumors to cause impairment in vision (neurofibromatosis 1)?

Usually: The symptoms are caused by tumor growing and pressing on the optic nerve and nearby structures. Symptoms may include: •involuntary eyeball movement, eyes bulging outward, squinting, loss of vision in one or both eyes leading to eventual blindness this may be losso of peripheral vision or more general loss. ...Read more

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Is there any difference between neurofibromatosis and elephant man's disese?

Unknown: Despite multiple attempts at diagnosis, there is no sure diagnosis of the disease joseph merrick suffered from. It was thought for many years he had nf, though he may have had proteus disease. There are numerous conditions that can cause extreme deformities that look similar. ...Read more

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Is there anything that can be done about neurofibromatosis ? Either to slow or stop the growth of new tumors? Reduce the size of existing ones?

not usually: Many women with nf1 note increase in growth of preexisting tumors during pregnancy.Adults with nf1 acquire more tumors with age.Nfs develop gradually over time, may continue to grow in size for period of time.Nothing person can do to prevent. Nf. May be removed by surgery or occasionally by laser. If neurofibroma is removed, may or may not grow back.No effect by foods, smoking, caffeine or heat. ...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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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 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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What is the life expectancy for people with neurofibromatosis type 1?

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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My sister has NEUROFIBROMATOSIS type 2. She only has the cafe spots on her body. Will I develop it too? Is there a chance she will get a tumor? :(

Neurofibromatosis: Are you certain your sister has NF2? What about NF1? The reason for asking is that cafe au lait spots are not used to diagnose NF2. What about your parents? Many cases are spontaneous, and you may never develop symptoms of NF. It depends on which type we are talking about and what other family members have it. Once you are sure of the diagnosis then your questions may be answered. ...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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My son had 2 seizures and has cafe au lait spots, could this be neurofibromatosis?

My son had 2 seizures and has cafe au lait spots, could this be neurofibromatosis?

Variable: Nf is very variable in expression and progression.Nf1 can affect the skin(neurofibromas, cafe au lait spots) , eyes( gliomas), bones( scoliosis and pseudarthrosis)nerves with neurofibromas, and a person's general constitution (adhd and mental retardation).More severe cases are usually detected earlier in life.Brain areas of dysplasia or tumor can occur.Neurologist and possible mr of brain suggested. ...Read more

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