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Doctor insights on: Von Recklinghausen Neurofibromatosis

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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
164 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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What is the treatment for von recklinghausen's disease?

What is the treatment for von recklinghausen's disease?

None specific: The diagnosis is primarily clinical based on skin lesions. There are two major genetic forms and diagnosis may be confirmed by genetic testing. Treatment is based on the symptoms and organ system affected. See the site below: http://www.Ninds.Nih.Gov/disorders/neurofibromatosis/neurofibromatosis.Htm. ...Read more

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Please let me know if there is a cure for von recklinghausen's disease neurofibromas?

Please let me know if there is a cure for von recklinghausen's disease neurofibromas?

Neurofibromatosis: The quick answer is no but hopefully in the future the genetics people will be able to manipulate the gene that causes this disorder and stop the progression. At the moment we do not have that ability. ...Read more

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What are the tests for von recklinghausen's disease?

What are the tests for von recklinghausen's disease?

Clinical & genetic: The diagnosis is primarily clinical based on skin lesions. There are two major genetic forms and diagnosis may be confirmed by genetic testing. See the site below: http://www.Ninds.Nih.Gov/disorders/neurofibromatosis/neurofibromatosis.Htm. ...Read more

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What are the symptoms of von recklinghausen's disease?

What are the symptoms of von recklinghausen's disease?

Tan/brown spots: Neurofibromatosis type 1 (von recklinghausen's) is diagnosed if the patient has two or more neurofibromas, six or more "cafe au lait" spots (>1.5 cm in adults), many freckles in the armpits, affected relative . Other diagnostic criteria require doctor: optic gliomas (tumors behind the eye), 2 or more lisch nodules (found in iris of eye), and certain bone lesions. 2 or more of above needed. ...Read more

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Please let me know if there is a cure for von recklinghausen's disease?

Please let me know if there is a cure for von recklinghausen's disease?

No: that is the old-fashioned term for neurofibromatosis type 1. This genetic disease varies considerably and how it affects a given individual. You may review information online at http://www.nhs.uk/Conditions/Neurofibromatosis/Pages/Symptoms.aspx ...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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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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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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I'm scared I might have neurofibromatosis, what symptoms should I be wary of?

Cafe Au Lait spots: Which look like this: http://www.Sciencephoto.Com/media/259913/enlarge . Also, the spot must appear, that is, not be there from birth (that would be a birthmark). ...Read more

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Is there a cure for neurofibromatosis?

Is there a cure for neurofibromatosis?

No: There is no cure for neurofibromatosis and goal of treatment is to relieve symptoms. Painful cutaneous and subcutaneous tumors and those that occur on visible areas of the body may be removed surgically. Surgery also may be performed to remove schwannomas and nerve tissue tumors (neurofibromas) that cause pain, sensory loss, and loss of function. ...Read more

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Is neurofibromatosis a cancer?

Is neurofibromatosis a cancer?

NO: Nf is a genetic disosrder that can predispose patient to tumors, mostly benign such as neurofibromas tumors of skin and other tissues .Plexiform neurofibromas are deeper tumors that affect nerves. These rarely become malignant. Other tumors can involve optic nerve (gliomas) , acoustic nerves (neuromas), meningiomas, astrocytoma brain, intestinal tumors (carcinoids)and adrenal pheochromocytomas. ...Read more

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Is there a cure or treatment for neurofibromatosis?

Is there a cure or treatment for neurofibromatosis?

Neurofibromatosis: There is no cure for neurofibromatosis and the goal of treatment is to relieve symptoms. Painful cutaneous and subcutaneous tumors and those that occur on visible areas of the body may be removed surgically. Surgery also may be performed to remove schwannomas and nerve tissue tumors (neurofibromas) that cause pain, sensory loss, and loss of function. ...Read more

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Md wants to treat neurofibromatosis. What if I don't?

Learn what U can: Nf is not a single disease but a collection of disorders. Some are mild & have minimal effect & some feature slow growing tumors that can distroy hearing or other vital organs.You need to verify the form you are working with and its features. A genetic counselor can help you sort thru much of the written material so you can make an informed decision on any proposal. ...Read more

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Baby with many cafe au lait spots. Is it neurofibromatosis?

Baby with many cafe au lait spots. Is it neurofibromatosis?

Number and size: Symptoms of nf1 may be seen at birth and may include light brown sports, six or more measuring 5 mm in greatest diameter in prepubertal individuals and over 15 mm in greatest diameter in postpubertal individuals.Two or more growths on the iris of the eye, a tumor of optic nerve, , development of two or more subcut. Nodules, neurofibromas and bone abnormalities of tibia, skull, and spine. ...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 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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Is neurofibromatosis a polygenic disorder, or is there a single mutation?

Is neurofibromatosis a polygenic disorder, or is there a single mutation?

Single gene disorder: Neurofibromatosis type 1 is caused by a mutation of the nf1 gene on chromosome 17. This gene normally allows your cells to make a protein called neurofibromin. So far we have found more than 500 different mutations in this gene in people with this condition. You just need one mutation to get nf1 - half the time it comes out of the blue, and half the time it's inherited from a parent. ...Read more

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