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Doctor insights on: Neurofibromatosis

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Dr. Gerald Mandell
167 Doctors shared insights

Neurofibromatosis (Overview)

A genetic condition characterized by cafe au lait spots, which are pigmented patches of skin, and benign tumors of nerve tissue.


Dr. Gerald Mandell
167 Doctors shared insights

Neurofibromatosis (Overview)

A genetic condition characterized by cafe au lait spots, which are pigmented patches of skin, and benign tumors of nerve tissue.


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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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How soon can you test for neurofibromatosis? My gf is three months along.

How soon can you test for neurofibromatosis? My gf is three months along.

If family history: There are prenatal genetic tests for neurofibromatosis. While test results can provide very important information for future parents. Genetic tests available today can be performed only when there is a family history of nf; prenatal tests include chorionic villus sampling can be performed at 10 weeks gestation. Amnioncentesis is performed at 16 weeks. ...Read more

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What are the tests for neurofibromatosis?

Clinical diagnosis: The best test for neutofibromatosis is a physical examination by a practitioner familiar with the nih criteria. ...Read more

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How can I know if I have neurofibromatosis?

How can I know if I have neurofibromatosis?

Many signs: Physician with physical exam can detect many signs of nf. Symptoms of nf1, most common form may be seen at birth and may include light brown spots on the skin ("cafe-au-lait" spots), two or more growths on the iris of the eye, a tumor of optic nerve, a larger than normal head circumference, development of subcutaneous nodules or neurofibromas, abnormal spine, tibia, or other bone. ...Read more

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If I treat neurofibromatosis will it be gone, or do I need to keep worrying? I have so much on my mind.

Its In your genes: If you do have one of the many forms of nf you have it forever. Treatment programs focus on early detection of some of the possible complications (abnormal growths in vital areas) & educating you on your form. Many cases represent new mutations. Some are inherited from parents who never knew they carried the genes. Your dr can refer you to a genetic counselor to begin your orientation. ...Read more

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What do you advise if I had a question about neurofibromatosis, can it treated in any kind of way or does it have to require surgery by a doctor?

Neurofibromatoma: NF is a disease of many manifestations and a wide range of severities - it is typically treated only when a tumor has shown significant growth, pain or signs of degeneration. ...Read more

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Is there a cure or treatment for neurofibromatosis?

Is there a cure or treatment for neurofibromatosis?

NF 1, from a gene: Mutation on chromosome 17, has highly variable medical & neurodevelopmental manifestations. Nerve tumors form on/under skin, in brain & other areas of nervous system, & other parts of body. Specialists in genetics psychology, behavior/development, surgery, oncology and ophthalmology help patients with nf i. Learning disorders & adhd often occur. Www. Ctf. Org has complete info & resources. ...Read more

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Are there any proven effective treatments for neurofibromatosis?

Are there any proven effective treatments for neurofibromatosis?

Not yet!: No cure. I would however recommend seeing a dermatologist. They can help monitor for other associated conditions in addition to the skin. There are different subsets and severities of neurofibromatosis (nf). They can help make the diagnosis, excise neurofibromas and coordinate care if needed (ophthalmology, neurology, ent, orthopedics, genetics). ...Read more

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What the percentage of person who has cafe au lait spots gets neurofibromatosis?

What the percentage of person who has cafe au lait spots gets neurofibromatosis?

Number of spots: Many people who do not have nf have a few café-au-lait spots. If a young child has five or more, at least ½ inch or 15 mm in size post puberty lookfor other signs such as neurofibromas — tumors along skin and lisch nodules, tiny, noncancerous tumors on the iris (the colored part of the eye). Consult physician to better assess individual signs for diagnosis. ...Read more

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How could you get neurofibromatosis without it being in your past family genetics?

How could you get neurofibromatosis without it being in your past family genetics?

Mutation: 50% of new NF1 cases are mutations and do not arise from inheritance. NF1 has autosomal dominant inheritance. Descendants of an affected individual have 50% risk of inheriting the altered NF1 gene. ...Read more

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Are patients with neurofibromatosis considered to have high risk pregnancies?

Are patients with neurofibromatosis considered to have high risk pregnancies?

Not necessarily: In a study 105 women had a total of 247 pregnancies, resulting in 182 live births.Cesarean section rate (36%) was greater than the general population. Did not show previously reported increased preeclampsia, preterm delivery, intrauterine growth restriction, pregnancy-induced hypertension, stillbirth, spontaneous abortion/perinatal mortality.60% showed new neurofibromas and 52% enlargement of nfs. ...Read more

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I have neurofibromatosis. Will tanning make my condition worse?

I have neurofibromatosis. Will tanning make my condition worse?

Sun protection: Sun exposure can make cafe au lait spots darker, but does not mean that the NF is getting more severe or progressing. The problem with tanning is sun exposure. Melanoma has been reported in few patients with nf1, mainly females. Protection from sun is advised to patients with and without nf. ...Read more

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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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What is neurofibromatosis?

What is neurofibromatosis?

Nerve ; brain tumors: Neurofibromatosis, inherited problem, with varying degrees of involvement from mild to severe. Neurofibroma is benign tumor that originates from the nerve cells. Tumors usually arise from nerves in the skin or jut under the skin. Type 1 usually appears in children with brown flat skin spots, freckling in armpits, and soft tumors under the skin and sometimes bone deformity. Type 2 usually brain tumors. ...Read more

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Could anybody get neurofibromatosis?

Congenital condition: Neurofibromatosis is an autosomal dominant genetic disease, meaning if one of your parents has the disease you have a 50% chance of inheriting the disease. There are also instances of spontaneous mutation in about half of cases where an individual has the disease but it is not seen in family members. Either way, you are born with the condition, but may not see symptoms until later. ...Read more

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Is neurofibromatosis a rare disease?

Is neurofibromatosis a rare disease?

Define rare: At 1/4000 births this is relatively common compared to many genetically influenced afflictions. About a 3rd are new mutations and the others are passed from an affected parent to half their offspring. ...Read more

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What are the tests for neurofibromatosis?

Clinical diagnosis: The best test for neutofibromatosis is a physical examination by a practitioner familiar with the nih criteria. ...Read more

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What is the history of neurofibromatosis?

Long history: Von Recklinghausen's (NF1) has pictorial history, dating back to thirteenth century. In 1768, Akenside published a scientifically-based description of NF1, recognizing that scholars such as Parè and Aldrovandi, in fact suffered from a disorder of the nerves. Neuromas of NF1 were first detailed by Smith in 1849, but Frederick von Recklinghausen is credited with its discovery and coined the name. ...Read more

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Please help me? What is neurofibromatosis?

Neurofibromatosis: Neurofibromatosis or nf is an inherited disorder or one that occur spontaneously in a patient. It is a disorder that involves the nerves, structures that carry information from the brain to outlying parts of our bodies. In nf there are tumors, which in most cases are benign that arise from these nerves. The disease is extremely variable in how it affects a patient. ...Read more

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Can neurofibromatosis have a cure someday?

Can neurofibromatosis have a cure someday?

Hopefully Yes: We have learned much about neurofibromatosis (nf) over the years. As our understanding grows our treatments and possibly a cure will come. Our understanding is advancing ever more rapidly in the last few years. ...Read more

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How can I know if I have neurofibromatosis?

Many signs: Physician with physical exam can detect many signs of nf. Symptoms of nf1, most common form may be seen at birth and may include light brown spots on the skin ("cafe-au-lait" spots), two or more growths on the iris of the eye, a tumor of optic nerve, a larger than normal head circumference, development of subcutaneous nodules or neurofibromas, abnormal spine, tibia, or other bone. ...Read more

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I have neurofibromatosis. What should I do?

Get information: Http://www. Ninds. Nih. Gov/disorders/neurofibromatosis/detail_neurofibromatosis. Htm

This is website with a lot of accurate information, ...Read more

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My friend has neurofibromatosis. What is that?

My friend has neurofibromatosis. What is that?

NF resource: Here is a great resource where you can find lots of answers about neurofibromatosis:
http://www. Nfnetwork. Org/ ...Read more

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What are the main symptoms of neurofibromatosis?

What are the main symptoms of neurofibromatosis?

Many manifestations: Commonly nf gradually appears with development of brown flat spots and soft nodules under the skin. The brown (café-au-lai) spots are the main symptom of neurofibromatosis. Freckling of armpits, neurofibromas orsubcutaneous bumps, which increase in number with age. Lisch nodules (hamartomas of iris), gliomas of the optic nerve, skeletal dysplasias with limb abnormalities and scoliosis. ...Read more

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What symptoms make you think of neurofibromatosis?

What symptoms make you think of neurofibromatosis?

There are 2 froms.: Nf-1 is characterized by tumors on small nerves under the skin. The worst form of this was depicted in a movie called the "elephant man". Tumors on spinal nerves can cause numness and weakness of certain arm or leg muscles. Nf-2 is characterized by brain tumors. The most common form is a tumor on both hearing nerves. Hearing loss, dizzyness, and ringing in the ear are common symptoms of nf-2. ...Read more

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How can you tell if someone has neurofibromatosis?

What type?: Nf-1 has classic skin manifestations - one just examines skin to see if criteria for the number/size of nevi and ash-leaf spots on the skin are seen. ...Read more

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Can a person with neurofibromatosis type 2 die young?

NF-2: The average life expectancy for someone with NF2 is 65 years of age with appropriate screening and intervention. ...Read more