Neurofibroma (patient information)

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Neurofibroma (patient information)
ICD-O: 9540-9550
DiseasesDB 23371
MeSH D009455

Neurofibroma

Overview

What are the symptoms?

What are the causes?

When to seek urgent medical care?

Diagnosis

Treatment options

Where to find medical care for Neurofibroma?

Prevention of Neurofibroma

What to expect (Outlook/Prognosis)?

Possible complications

Neurofibroma On the Web

Ongoing Trials at Clinical Trials.gov

Images of Neurofibroma

Videos on Neurofibroma

FDA on Neurofibroma

CDC on Neurofibroma

Neurofibroma in the news

Blogs on Neurofibroma

Directions to Hospitals Treating Neurofibroma

Risk calculators and risk factors for Neurofibroma

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Sara Mohsin, M.D.[2] Jinhui Wu, M.D.; Lakshmi Gopalakrishnan, M.B.B.S.

Synonyms and Keywords: NF1; Von Recklinghausen neurofibromatosis

Overview

Neurofibroma is genetic disorder of the nervous system that results in the growth of noncancerous tumors along nerves. Studies suggested that the cause of neurofibroma is related to gene mutations. There are two main forms of neurofibroma: peripheral neurofibromatosis and central neurofibromatosis.

Peripheral neurofibromatosis is common. Usual signs of peripheral neurofibromatosis includes more tan spots on the skin, freckles, lumps on the skin and a variety of bone defects, such as bowing of the legs below the knee. Biopsy is the best way for diagnosis. In some cases, genetic testing of a blood sample is needed to confirm the diagnosis. For treatment, surgery can curative. However, they often grow back.

Central neurofibromatosis is rare. Severity of symptoms varies greatly. They depend on the nerve infiltrated. Acoustic nerve is the most commonly affected. Nervous system examination, hearing tests, computed tomography (CT) and magnetic resonance imaging (MRI) may help the diagnosis. In some cases, genetic testing is done to help confirm the diagnosis. Treatment of central neurofibromatosis includes surgery, radiation therapy, chemotherapy, or a combination of them.

What are the symptoms of Peripheral neurofibromatosis or Neurofibromatosis type 1?

What causes Peripheral neurofibromatosis or Neurofibromatosis type 1?

When to seek urgent medical care?

Call your health care provider if:

Diagnosis

  • 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 (ADHD), learning disorders
  • 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 options

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.

Where to find medical care for Neurofibroma?

Directions to Hospitals Treating neurofibroma

Prevention of Neurofibroma

  • Genetic counseling is recommended for anyone with a family history of neurofibromatosis.
  • Annual eye exams are strongly recommended.

What to expect (Outlook/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.

Possible 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

See also

Sources

http://www.nlm.nih.gov/medlineplus/ency/article/000847.htm Template:WH Template:WS