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Definition

Neurofibromatosis 2 (NF2) is a genetic disorder in which tumors form on the nerves of the brain and spine (the central nervous system).

See also: Neurofibromatosis 1(NF1)

Alternative Names

NF2; Bilateral acoustic neurofibromatosis; Central bilateral acoustic NF

Causes, incidence, and risk factors

NF2 is passed down through families in an autosomal dominant fashion. This means that if one parent has NF2, any child of that parent has a 50-50 chance of having it.

The main risk factor is having a family history of the condition.

Symptoms

Symptoms of NF2 include:

  • Balance problems
  • Cataracts at a young age
  • Changes in vision
  • Coffee-colored marks on the skin
  • Facial weakness
  • Headaches
  • Hearing loss
  • Ringing and noises in the ears
Signs and tests

Signs include:

  • Brain and spinal tumors
  • Hearing-related (acoustic) tumors
  • Skin tumors

Tests include:

  • Genetic testing
  • Medical history
  • MRI
  • Physical examination
Treatment

Acoustic neuromas can be observed, or treated with surgery or radiation.

Patients may benefit from genetic counseling.

Every year, patients with NF2 should be evaluated with:

  • MRI of the brain and spinal cord
  • Hearing and speech evaluation
  • Eye exam
Support Groups

For information and support, visit www.nf.org.

References

Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007;6:340-351.

Haslam RHA. Neurocutaneous syndromes. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 596.

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Definition

Neurofibromatosis-1 is an inherited disorder in which nerve tissue tumors(neurofibromas) form in the skin, bottom layer of skin (subcutaneous tissue), and nerves from the brain (cranial nerves) and spinal cord (spinal root nerves).

Alternative Names

NF1; Von Recklinghausen neurofibromatosis

Causes, incidence, and risk factors

NF1 is an inherited disease. If either parent has NF1, each of their children has a 50% chance of having the disease.

NF1 also appears in families with no previous history of the condition, as a result of a new gene change (mutation) in the sperm or egg. NF1 is caused by abnormalities in a gene for a protein called neurofibromin.

Symptoms

Neurofibromatosis causes unchecked growth of tissue along the nerves. This can put pressure on affected nerves and cause pain, severe nerve damage, and loss of function in the area served by the nerve. Problems with sensation or movement can occur, depending on the nerves affected.

The condition can be very different from person to person, even among people in the same family who have the NF1 gene.

The "coffee-with-milk" (cafe-au-lait) spots are the hallmark symptom of neurofibromatosis. Although many healthy people have 1 or 2 small cafe-au-lait spots, adults with 6 or more spots greater than 1.5 cm in diameter are likely to have neurofibromatosis. In most people with the condition, these spots may be the only symptom.

Other symptoms may include:

  • Blindness
  • Convulsions
  • Freckles in the underarm or groin
  • Large, soft tumors called plexiform neurofibromas, which may have a dark color and may spread under the surface of the skin
  • Pain (from affected peripheral nerves)
  • Small, rubbery tumors of the skin called nodular neurofibromas
Signs and tests

Diagnosis is made by a doctor familiar with NF1, including a neurologist, geneticist, dermatologist, or developmental pediatrician. The diagnosis will usually be made based on the unique symptoms and signs of neurofibromatosis.

Signs include:

  • Colored, raised spots (Lisch nodules) on the colored part (iris) of the eye
  • Fracture of the long bones of the leg in early childhood
  • Freckling in the armpits, groin, or underneath the breast in women
  • Large tumors under the skin (plexiform neurofibromas), which can affect the appearance and put pressure on nearby nerves or organs
  • Many soft tumors on the skin or deeper in the body
  • Mild cognitive impairment, attention deficit hyperactivity disorder, learning disorders
  • Soft nodulesunder the skin

Tests may include:

  • Eye exam by an ophthalmologist familiar with NF1
  • Genetic tests to find a change (mutation) in the neurofibromin gene
  • MRI of the affected site
  • Other specific tests for complications
Treatment

There is no specific treatment for neurofibromatosis. Tumors that cause pain or loss of function may be removed. Tumors that have grown quickly should be removed promptly as they may become cancerous (malignant). Experimental treatments for severe tumors are under investigation.

Some children with learning disorders may need special schooling.

Support Groups

For more information and resources, contact the National Neurofibromatosis Foundation.

Expectations (prognosis)

If there are no complications, the life expectancy of people with neurofibromatosis is almost normal. With the right education and job expectations, people with neurofibromatosis can live a normal life.

Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder in a small number of patients. Learning disabilities are a common problem.

Some people are treated differently because they have hundreds of tumors on their skin.

Patients with neurofibromatosis have an increased chance of developing severe tumors. In rare cases, these can shorten a person's lifespan.

Complications
  • Attention deficit hyperactivity disorder (ADHD)
  • Blindness caused by a tumor in an optic nerve (optic glioma)
  • Break in the leg bones that does not heal well
  • Cancerous tumors
  • Loss of function in nerves that a neurofibroma has put pressure on over the long term
  • Pheochromocytoma, which causes very high blood pressure
  • Regrowth of NF tumors
  • Scoliosis, or curvature of the spine
  • Tumors of the face, skin, and other exposed areas
Calling your health care provider

Call your health care provider if:

  • You notice coffee-with-milk colored spots on your child's skin or any of the signs listed here.
  • You have a family history of neurofibromatosis and are planning to have children, or would like to have your child examined.
Prevention

Genetic counseling is recommended for anyone with a family history of neurofibromatosis.

Annual eye exams are strongly recommended.

References

Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007;6:340-351.

Haslam RHA. Neurocutaneous Syndromes. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelston Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 596.

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Neurofibromatosis is usually diagnosed when the patient has 10 or more cafe-au-lait spots.

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WOW!! That guy is amazing. A chicken? Histerical, Neurofibromatosis affects only chromosome number 23. It also will affect the brain and is an autosomal dominant genetic disorder.

It is when your chromosome has a chicken.

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The genotype for Neurofibromatosis is typically inherited in an autosomal dominant pattern, caused by mutations in the NF1 gene located on chromosome 17. Individuals with Neurofibromatosis usually have a mutation in one copy of the NF1 gene.

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Yes, there are support groups for neurofibromatosis. The Children's Tumor Foundation, NF Network, and NF Australia are some organizations that offer support and resources for individuals and families affected by neurofibromatosis. These groups provide opportunities for connections, information sharing, and emotional support.

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Neurofibromatosis - is a genetic condition... nota communicable disease. You cannot 'catch' it from a sufferer by way of intercourse with an affected person.

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The NHS website has detailed information on neurofibromatosis. They have details of the diagnosis, causes, symptoms and possible treatments for the condition.

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Neurofibromatosis was first described in medical literature in the late 1800s by Friedrich Daniel von Recklinghausen, a German pathologist. He characterized the condition and it was later named after him as Von Recklinghausen's disease or neurofibromatosis type 1 (NF1).

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no, not yet, but they are working to find one!

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yes !! I suffer from NF1

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Since the disorder is genetic, one does not technically "get" neurofibromatosis as an adult. You would have to have had the disorder since birth. But there are cases in which the disorder has not been diagnosed until later in life.

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No, you can have them both, none, or either one

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Neurofibromatosis is a genetic disorder that causes tumors to grow on nerves in various parts of the body. There are three types of neurofibromatosis: NF1, NF2, and schwannomatosis. Symptoms can vary widely and may include skin changes, hearing loss, and balance problems, depending on the type of neurofibromatosis. Treatment options focus on managing symptoms and monitoring for any potential complications.

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Neurofibromatosis derives its name from the types of tumors it causes: neuro- refers to nerves, fibro- refers to fibrous tissue, and -matosis indicates a condition involving multiple tumors. This genetic disorder results in the growth of tumors on nerves and fibrous tissue throughout the body.

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Neurofibromatosis- a disease where tumors grow along nerve endings in the body.

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there is no cure yet, but if tumors become harmful they can sometimes be removed.

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Neurofibromatosis was first formally described by the German pathologist Friedrich Daniel von Recklinghausen in the late 1800s. He published a detailed case study of the condition, which led to it being named after him as von Recklinghausen's disease.

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Both types of neurofibromatosis are an autosomal dominant genetic disorder which means an affected person has a 1 in 2 chance of passing it on in each pregnancy. Neurofibromatosis also can be the result of a mutation in the genetic material of the sperm or egg at conception even if families have no previous history of NF. About half of cases are inherited, and the other half are due to spontaneous genetic mutation

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Clinical genetic testing can confirm the presence of a mutation in the neurofibromatosis type 1 (NF1) gene. Prenatal testing for NF1 mutations is also possible using amniocentesis or chorionic villus sampling procedures. Genetic testing for neurofibromatosis type 2 (NF2) mutations is sometimes available but is accurate only in about 65 percent of those individuals tested.

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If this means stories about people suffering from neurofibromatosis (NF), the Neurofibromatosis Clinics Association provides a site. A link to their website is provided below. The phrase "NF stories" entered at Google will return other sites as well.

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Neurofibromatosis occurs in about one of every 4,000 births. Two types of NF exist, NF-1 (90% of all cases), and NF-2 (10% of all cases).

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Neurofibromatosis 1 (NF1) is characterized by the presence of multiple neurofibromas, cafe-au-lait spots, and Lisch nodules in the eyes, while Neurofibromatosis 2 (NF2) is characterized by bilateral vestibular schwannomas leading to hearing loss, balance issues, and facial weakness. NF1 is more common and typically less severe than NF2.

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People who have NF1 may have very few neurofibromas, or they may have thousands throughout their bodies

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Yes, actress Ashley Tisdale and American football player Matt Schobel have Neurofibromatosis. They have been open about their struggles with the condition, raising awareness and offering support to others facing similar challenges.

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Glaucoma, Waardenburg syndrome, Neurofibromatosis, or some mild infection infecting one eye.

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Neurofibromatosis, a nerve disorder that causes tumours to grow anywhere in the body at any time.

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Neurofibromatosis is a rare genetic disorder, with an estimated incidence of 1 in 3,000 individuals worldwide. Therefore, it is difficult to provide an exact number of how many people get Neurofibromatosis in a year globally.

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There is an increased risk of developing a vestibular schwannoma in individuals who have a disease called neurofibromatosis.

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The dominant theory throughout much of the 20th century was that Merrick suffered from neurofibromatosis type I. In 1986, a new theory emerged that he had Proteus syndrome. In 2001 it was proposed that Merrick had suffered from a combination of neurofibromatosis type I and Proteus syndrome. DNA tests conducted on his hair and bones have proven inconclusive.

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The dominant theory throughout much of the 20th century was that Merrick suffered from neurofibromatosis type I. In 1986, a new theory emerged that he had Proteus syndrome. In 2001 it was proposed that Merrick had suffered from a combination of neurofibromatosis type I and Proteus syndrome. DNA tests conducted on his hair and bones have proven inconclusive.

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It does not affect any specific people nor does it have an impact on any one culture.

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Neurofibromatosis is an autosomal dominant disorder, which means only one copy of the affected gene is needed for the disorder to develop.

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Depending on context, NF-3 could be neurofibromatosis type 3 or Nitrogen trifluouride.

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Neurofibromatosis itself is not typically fatal. However, complications from the condition, such as malignant tumors or other serious health issues, can contribute to premature death for some individuals with severe forms of the disorder. Regular medical monitoring and appropriate management are important to ensure the best possible outcome for those with Neurofibromatosis.

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It was most recently determined that Joseph Merrick suffered from a combination of neurofibromatosis I and Proteus Syndrome. He was known as the "Elephant Man".

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They think Robert Redford might because it looks like he has a neurofibroma on his neck, but he won't say anything about it.

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hereditary condition associated with an increased risk of bilateral acoustic neuromas, other nerve cell tumors and cataracts.

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Michael. Howell has written:

'Oklahoma's timber industry' -- subject(s): Statistics, Forest products industry, Lumber trade, Timber

'The true history of the Elephant Man' -- subject(s): Biography, Health, Human Abnormalities, Neurofibromatosis, Patients, Proteus syndrome, Multiple Abnormalities, Neurofibromatosis 1

'Guitar Chord Voicings'

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Neurofibromatiosis is a genetics disease. Its passed through the parents genes, and it affects the brain, spinal cord, nerves, and skin.

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Genetic disorder of the nervous system, affects the development and growth of nerve cell tissues, tumors grow on nerves, and othe abnormalities.

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Boris Kin Lin has written:

'Characterization of the neurofibromatosis type 1 gene product and its interaction with RAS'

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He discovered genes causing cystic fibrosis, neurofibromatosis, and Huntington Chorea. (i would spell check this answer) please look to further references.

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A. Huntington's disease and neurofibromatosis type 1 are examples of autosomal dominant diseases. These conditions are caused by a single copy of a mutated gene on an autosome (non-sex chromosome) and can be passed down from one affected parent to their offspring with a 50% chance of inheritance.

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You should seek treatment for neurofibromatosis from a medical professional specializing in neurology or genetics. It is also recommended to visit a specialized center or clinic that focuses on treating neurofibromatosis to receive comprehensive care and management.

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Neurofibromatosis typically does not directly cause death. However, complications from the condition, such as large tumors pressing on vital structures or an increased risk of certain cancers, can potentially lead to serious health issues that may be life-threatening. It is important for individuals with neurofibromatosis to receive regular medical monitoring and care to manage any associated risks.

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