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Madisons Foundation - Moms And Dads In Search Of Needed Support

Neurofibromatosis type 1 (NF1)
Monday, 18 August 2003
Monday, 12 January 2004
Additional entries in our database that you might find useful:   Neurofibroma Plexiform Tumors


Neurofibromatosis type 1 (NF1) is a genetic disorder wherein tumors called neurofibromas grow on the nerves underneath the surface of the skin, thus causing abnormalities noticeable on the skin. NF1 is usually diagnosed in childhood. The effects of the disease vary depending on the extent of the tumor growth, however, most children with NF1 live normal lives.


NF1 is known to affect both sexes and all races and ethnicities equally. It occurs approximately in 1 in 3000 people in the population. NF1 can therefore affect any person from anywhere in the world.

Signs and Symptoms

Neurofibromatosis 1 (NF 1) is usually diagnosed in young children and the diagnostic criteria requires that the child must have at least 2 of the following:

  • 6 or more light brown spot on the skin called cafe-au-lait spots that are at least a quarter of an inch in size 
  • pit and groin areas
  • Benign (not cancerous) growths on the iris, the colored part of the eye 
  • Tumor on the optic nerve called optic glioma
  • 2 or more neurofibromas (tumors that grow on a nerve on or under the skin
  • A family history of NF 1

Possible Causes

Half of the cases of NF1 are inherited and the other half arise from a genetic mutation that occurs spontaneously, in other words it just happens. For those people in whom NF1 runs in the family, one of the parents passes on the affected gene for NF1 to the child, and this inheritance pattern is called autosomal dominant. Parents have no control if they will pass on a normal or affected gene to their offspring. Each child born to an affected parent has a 50% chance of inheriting the damaged gene and developing NF1.


The clinical diagnosis is determined by meeting 2 of the above criteria of café-au-lait spots, freckling, growths on the iris and/or optic nerve of the eye, tumors found elsewhere under the skin and/or a positive history of a family member being diagnosed with NF1. Imaging studies such as an MRI (magnetic resonance image) and X-rays can be used to reveal tumors, their size and exact locations. A child’s head circumference should be measured because children with NF1 can sometimes have a larger head size. A good developmental history can also point to NF1, especially if there are signs of learning problems at school or at home. Genetic testing is available and may be offered to prospective parents who have a family history of NF1 to determine if a mutation is possible in one of the parents, lending some assistance to prenatal diagnosis.


Treatment of NF1 is aimed at controlling the symptoms that interfer with daily life. If tumors grow to be large, they can be surgically removed, but there is a chance that the tumors can grow back. In the very rare instance that the tumor becomes malignant (cancerous) treatment will probably include chemotherapy and radiation in addition to surgery. Children with growth on the eye structures need specialized examination and treatment from an ophthalmologist. Children who experience learning difficulties can receive special help at school.


In most cases of NF1, the symptoms are mild and the child can live a normal, productive life well into adulthood. Regular medical care is beneficial to monitor for tumor growths and to ensure that vision remains optimal.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


National Neurofibromatosis Foundation
This is a great resource that has lots of information on NF including ongoing research, support groups, clinical trials, and specific events going in your state.

Another good website with a lot of information about the current findings in NF research, newsletters, scholarship opportunities, and excellent links to various organizations. Additionally there is a good section on misconceptions of the disease (it is commonly confused with the disease that affected the Elephant Man).

Texas Neurofibromatosis Foundation
This has a wealth of information about the disease as well as links to other sites, NF clinics, patient outreach and annual events.

Google Search for Neurofibromatosis type 1 (NF1)

References and Sources