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Doctor insights on: Need 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 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?

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

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When does neurofibromatosis symptoms start to develop?

When does neurofibromatosis symptoms start to develop?

It varies: Signs of neurofibromatosis type 1 (nf1) can appear before birth or may not be apparent until well into adulthood. Cafe-au-lait (that's french for coffee with milk) spots are often the first thing to be noticed in children; usually more than 5 spots that are bigger than 1/2 cm. Nf2 is a completely different condition with hearing loss or cataract often the first symptom in the late teens/early 20s. ...Read more

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What is wrong with people who have neurofibromatosis?

Uncontrolled growth: Patients with neurofibromatosis have uncontrollable growth of certain nerve cells. These masses, called fibromas, lead to multiple complications including epilepsy. ...Read more

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Can a person with neurofibromatosis have a normal life?

Can a person with neurofibromatosis have a normal life?

Yes: And I'm hoping your one of the many with neurofibromatosis who live a happy, healthy and otherwise normal life. ...Read more

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How long can someone with neurofibromatosis type 2 live?

How long can someone with neurofibromatosis type 2 live?

Neurofibromatosis: It depends on how severely affected the patient is with the disorder. The earlier the diagnosis and the most number of lesions and location (particularly in the spine and brain) diagnosed can affect how long someone will live. In my practice I have adults doing well in the midlife yet have lost patients to the disorder as teenagers so it is very variable. ...Read more

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