What is mosaic NF2?

Mosaic Neurofibromatosis type 2 (mosaic NF2) is a term used to describe a situation where the genetic misprint that causes NF2 is present in some rather than all of the body's cells. People with NF2 develop benign tumours in the brain and spine.
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What is the life expectancy of someone with NF2?

Tumours that develop inside the brain and spinal cord can place a strain on the body and shorten life expectancy. The average life expectancy for someone with NF2 is 65 years of age. Read more about treating neurofibromatosis type 2.
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How serious is NF2?

People with NF2 often have a shorter life span than the general population. The disease can also lead to significant disabilities. Acoustic nerve tumors can be hard to treat and the majority of patients eventually become completely deaf.
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What is Mosaic neurofibromatosis?

Localised Neurofibromatosis, segmental Neurofibromatosis or mosaic Neurofibromatosis are terms used to describe a person where the signs for NF1 are limited to a particular area of their body. Localised, segmental and mosaic are words that mean the same in this case.
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What are symptoms of NF2?

Neurofibromatosis type 2 symptoms vary, but almost all people with NF2 develop vestibular schwannomas, benign nerve tumors, in both ears, which can cause:
  • Dizziness.
  • Hearing loss, which may begin as early as the teenage years.
  • Tinnitus (ringing in the ears)
  • Problems with facial expressions.
  • Issues with balance.
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Ask Kate! Segmental NF and Mosaic NF



Are you born with NF2?

Neurofibromatosis type 2 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one altered copy of the NF2 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent .
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Does everyone with NF2 go deaf?

An estimated one in 25,000 people is born with NF2, a hereditary tumor syndrome in which virtually everyone progresses to deafness because of vestibular schwannomas — tumors growing on the nerves responsible for hearing.
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How is Mosaic NF1 diagnosed?

A classic sign seen in our patient is a subtle hyperpigmented background patch in the affected area. Other diagnostic criteria include 2 or more neurofibromas or one plexiform neurofibroma, two or more Lisch nodules, optic glioma, bony dysplasia, or a first-degree relative with NF1.
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Does diet affect neurofibromatosis?

Excessive consumption of saturated fatty acids and lipids was also observed in both male and female patients. Conclusions: In this study, NF1 patients consumed an unhealthy diet that was rich in fats and sodium and lacking in fiber, vitamins, and minerals.
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What do neurofibromas look like at first?

Typically, people with NF1 start to see neurofibromas appear during their teens. The neurofibromas grow slowly and may look like a pimple at first. You won't wake up one morning, or next year, and be covered with neurofibromas. They develop gradually over a period of many years.
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Can NF2 be cured?

There's currently no cure for NF2. Treatment involves regular monitoring and treating any problems as they occur. Surgery can be used to remove most tumours, although it carries a risk of causing problems, such as complete deafness or facial weakness.
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How do you get NF2?

The biggest risk factor for neurofibromatosis is a family history of the disorder. About half of people who have NF1 and NF2 inherited the disease from an affected parent. People who have NF1 and NF2 and whose relatives aren't affected are likely to have a new gene mutation.
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Does NF2 make you tired?

People with NF2 commonly report fatigue or extreme tiredness. This often follows treatment for a brain tumour and can continue even after you have fully recovered from the surgery. Whilst there is still uncertainty about the exact cause, there are several theories.
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Is NF2 a rare disease?

NF2 is a rare disorder that affects males and females in equal numbers. All races and ethnic groups are equally affected by this disorder. The estimated incidence of NF2 is 1 in 33,000 people worldwide. The symptoms of this disease typically become apparent during puberty or early adulthood.
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Does NF2 cause blindness?

The NF2 condition is rare; the rare condition includes tumors and rare eye problems. The eye problems are uncommon enough that twenty-percent (20%) of vision loss of individuals with NF2 with a diagnosis of ocular abnormalities.
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Is NF2 a disability?

Although neurofibromatosis is a serious condition, the Social Security Administration (SSA) does not specifically list the disorder as a disability.
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Is Turmeric Good for neurofibromatosis?

Turmeric derived curcumin and olive oil derived oleocanthal have anti-inflammatory properties and can suppress pro-growth signaling pathways relevant to neurofibromas. A curcumin and olive oil treatment seemed to shrink cutaneous and plexiform neurofibromas in a small NF1 clinical trial.
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Does neurofibromatosis cause neuropathy?

Conclusions: Neurofibromatous neuropathy occurred in 1.3% of 600 patients with NF1. Its cause may be a diffuse neuropathic process arising from inappropriate signalling between Schwann cells, fibroblasts, and perineurial cells.
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Does NF1 cause itching?

Pain & Itching – Itching sometimes happens in NF1 and no one knows why this is so. Medication such as antihistamines or a simple emollient can sometimes help – ask your GP for guidance.
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Are neurofibromas painful?

A genetic disorder such as neurofibromatosis (NF) can cause multiple neurofibromas. Most of these tumors do not hurt or cause problems, but some neurofibromas itch or are painful, and some become tumors. Treatment consists of observation and, if necessary, medications or surgical removal.
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Can you be misdiagnosed with NF1?

EADV: Legius Syndrome Easily Misdiagnosed as Neurofibromatosis Type 1. Bruce Jancin. GOTHENBURG, SWEDEN - Legius syndrome, first described only 3 years ago, can be easily misdiagnosed as neurofibromatosis type 1. The diagnostic confusion has important consequences for the peace of mind of patients and their families.
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Is café-au-lait spots normal?

Café-au-lait (CAL) spots are most often present on a newborn's skin but it is common for CAL spots to develop on a person's skin later in life. It is normal for a person to have a few CAL spots but more than six spots may be a sign of an underlying condition.
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What age is NF2 diagnosed?

NF2 is usually detected in early adulthood, with the average age of symptom onset being around 20 years.
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Where is the NF2 gene located?

Neurofibromatosis type 2 (NF2) is a genetic disorder that involves changes in the NF2 gene. This particular gene helps in the production of merlin (also called schwannomin), a protein that stops tumors from forming. The gene is located on chromosome 22.
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Does neurofibromatosis worsen with age?

Unfortunately, NF1 can worsen with time, resulting in new growths over the body that cause major psychological and cosmetic issues.
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