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Doctor insights on: Neurofibromatosis Elephant Man

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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
163 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 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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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 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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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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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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What is the definition or description of: Neurofibromatosis?

Genetic disorder: Neurofibromatosis is a set of genetic disorders which emanate from mutations from either the NF1 or NF2 genes. There is a characteristic phenotype for each, which derives the diagnostic criteria for the diseases. NF1 is associated with a number of tumor types, while NF2 is particularly associated with acoustic neuromas. ...Read more

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Is there any research is being done on neurofibromatosis (nf)?

Yes: Research teams located the exact position of the NF1 gene on chromosome 17.Product of NF1 gene is a large and complex protein called neurofibromin,which is primarily active in nervous cells as a regulator of cell division.Intensive efforts have let to the identification of the NF2 gene on chromosome 22. NF2 gene product is a tumor-suppressor protein called merlin.Ongoing research to discover genes ...Read more

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Can neurofibromatosis kill you?

Can neurofibromatosis kill you?

Depends: Neurofibromatosis comes in many forms and involvement. If the neurofibromas affect critical areas of function. Death is possible. Forinstance if tumor becomes so enlarged that compresses airway or blood vessels supplying blood to brain or other vital organs. In rare insances malikgnent degeneration of neurofibromas into neuofibrosarcomas can occur. Some patients develop other lethal tumors.. ...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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Can i donate plasma if I have neurofibromatosis?

Can i donate plasma if I have neurofibromatosis?

Yes if: Plasma donors should be at least 18 years of age and weigh at least 110 pounds (50 kg). Must pass two, separately administered medical examinations, a medical history screening, and testing for transmissible viruses, before their donated plasma can be used. Neurofibromatosis does not have infectious etiology. Usually genetic or spontaneous mutation causes neurofibromatosis. ...Read more

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Sir, lumps are only symptoms of neurofibromatosis?

Many others: There are a number of criteria necessary to make the diagnosis of neurofibromatosis. A relative with the condition, neurofibromas (fleshy bumps), more than 5 brown patches (cafe au lait spots) > 1.5 cm in adults, freckling under the arms and groin, and eye changes (can be diagnosed by an ophthalmologist). There are also many different forms of the condition. ...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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Is there a connection between sarcoidosis and neurofibromatosis?

No: Neurofibromatosis is a genetic condition that affects patients from birth. Sarcoidosis is an acquired disease, albeit with some genetic predisposition. The two are not linked however, as far as i know. ...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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Is it possible to get a neurofibroma without having neurofibromatosis?

Yes.: It can occur spontaneously or it can be familial; isolated or part of a syndrome; or it can be associated with other conditions. ...Read more

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Male (Definition)

Male refers to the masculine gender, those people ...Read more