Health Now -What is neurofibromatosis? causes&Treatment

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What is neurofibromatosis?

Neurofibromatosis is a genetic condition characterized by the growth of neurofibromas. These are a type of tumor that is usually benign, or non-cancerous, although in rare cases they can be cancerous. These neurofibromas can form wherever there are nerve cells in the body.

Neurofibromatosis is not curable, but it is manageable and many people with the condition lead normal lives

What are the types of neurofibromatosis?

There are 3 types of neurofibromatosis:

  • neurofibromatosis type 1 (NF1) — the most common form, caused by a change in a gene on chromosome 17
  • neurofibromatosis type 2 (NF2) — a very rare form, caused by a change in a gene on chromosome 22
  • schwannomatosis — similar to NF2, but not associated with inner ear tumours and hearing loss

What are the symptoms of neurofibromatosis?

The signs and symptoms differ from person to person, depending on what type of condition they have.

In NF1, benign tumors commonly grow on the skin. A common feature of NF1 is ‘café au lait spots, which are harmless coffee-colored skin patches. Most people have 1 or 2 of these spots, but people with NF1 always have 6 or more. In NF1, tumors can also appear on the optic nerve and on the iris in the eye. These tumors might or might not affect vision.

In NF2, benign tumors usually develop in the ears, but they can also be found within the spinal cord and brain. Symptoms can include hearing loss and problems with swallowing, speech, balance, and eye movements.

What is neurofibromatosis? causes&Treatment


NF1 is caused by mutations in the gene that controls the production of a protein called neurofibromin (neurofibromin 1). This gene is believed to function as a tumor suppressor. In about 50% of people with NF1, the disorder results from gene mutations that occur for unknown reasons (spontaneous mutation). In others with the disorder, NF1 is inherited (“autosomal dominant inheritance pattern,”).

NF2 results from mutations in a different tumor-suppressing gene (neurofibromin 2, merlin). Some people with NF2 experience a gene mutation that occurs for unknown reasons (spontaneous mutation), while others inherit it from their parent(s) (autosomal dominant inheritance pattern).

While schwannomatosis is not well understood, it is estimated that 85% of cases have no known cause (spontaneous), and 15% are inherited.

Incidence and Prevalence

  • NF1 occurs in approximately one out of every 3,500 births
  • NF2 occurs in approximately one out of every 40,000 births
  • Schwannomatosis occurs an estimated one out of every 40,000 births
  • There is a 50-percent chance that each child of a parent with NF1 or NF2 will inherit the gene and develop NF1 or NF2 (respectively) — this is known as an autosomal dominant inheritance pattern
  • Tumors in these disorders are overwhelmingly benign; they may be/become malignant in 3 to 5 percent of all cases
  • About one-third of people with NF notice no symptoms

Other Names

Neurofibromatosis Type I (NF1)

  • Von Recklinghausen’s Disease
  • Von Recklinghausen’s Phakomatosis
  • Von Recklinghausen’s Neurofibromatosis
  • Neurofibroma, multiple
  • Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome
  • Peripheral Neurofibromatosis

Neurofibromatosis Type II (NF2)

  • Bilateral Acoustic Neurofibromatosis
  • Vestibular Schwannoma Neurofibromatosis
  • Central Neurofibromatosis

Diagnostic Criteria

Signs of NF1

  • Family history of NF1
  • Six or more café-au-lait spots on the skin
  • Freckling under the arms or in the groin area
  • Presence of pea-sized bumps (neurofibromas) on/just under the skin
  • Larger areas on/under the skin that appear swollen (plexiform neurofibromas)
  • Pigmented bumps on the eye’s iris (Lisch nodules)
  • Skeletal abnormalities, such as bowing of the legs (tibial dysplasia), thinning of the shin bone, scoliosis
  • Tumor on the optic nerve that may interfere with vision

Café-au-lait spots are most common on the chest, back, pelvis, elbows, and knees. These spots may exist at birth or appear during infancy. Between ages 10 and 15, flesh-colored growths of different sizes and shapes may begin to appear on the skin. There may be fewer than 10 of these growths or thousands of them.

Additional features may include an unusually large head (macrocephaly) and relatively short stature. Seizures may occur, and learning disabilities, speech problems or hyperactivity may be experienced.

Signs of NF2

  • Bilateral vestibular schwannomas (VS), also called acoustic neuromas, are definitive signs of NF2
  • Probable signs of NF2 include a family history of NF2, unilateral VS or any two of the following: meningioma, glioma, schwannoma, juvenile posterior subcapsular lenticular opacity, juvenile cortical cataracts

Depending on the exact location and size of the VS, any of the following may occur, alone or in combination with:

  • Balance problems
  • Walking problems
  • Dizziness
  • Headache
  • Hearing loss
  • Facial weakness
  • Numbness or pain
  • Ringing in ears (tinnitus)

Signs of Schwannomatosis

  • Definitive signs (age 30 or older) include showing no evidence of vestibular tumors on an MRI, having no known NF2 mutation and having two or more schwannomas within, or between, layers of the skin (with at least one that is confirmed by tissue pathology)
  • One pathologically confirmed schwannoma and a first-degree relative who meets the above criteria is also definitive sign of schwannomatosis
  • About one-third of people with schwannomatosis have segmental schwannomatosis, with tumors limited to one part of the body (such as an arm, leg or a region of the spine)

Treatment and Management

Children with NF1 should be checked for height, weight, head circumference, evidence of normal sexual development, signs of learning disability and/or behavioral issues. They should receive an examination of the skin for growths, spots, scoliosis, blood pressure, vision and screening for hearing loss. Any unusual growth patterns are generally investigated. Early or late onset of puberty also may indicate further study. Diagnostic evaluations such as blood tests, X-rays and other tests may be ordered if there are additional concerns. Healthy children with NF1 are usually examined at six or 12-month intervals.

Adults with NF1 generally have standard physical evaluations and an examination of the skin for growths, spots, scoliosis, blood pressure, vision and screening for hearing loss. Physicians should also be on the lookout for any new or enlarging mass or any new symptoms in general. Adults with NF1, who are otherwise healthy, usually have annual checkups.

Patients with NF2 should have similar routine examinations and care. Known growths are often imaged with periodic surveillance scans with treatment reserved for enlarging or symptomatic growths.

There is no known treatment or cure for neurofibromatosis or schwannomatosis. Medication can be prescribed to help with pain. In some cases, growths may be removed surgically or reduced with radiation therapy. Although surgery in these areas can cause further injury to nerves and additional neurological problems, it is usually well tolerated. The benefits of surgery should always be weighed against its risks. Likewise, in situations where radiation treatment is an option, the risks and benefits must be carefully considered.

you read more information about diseases that affect the nervous system

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