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Genetic and Rare Diseases Information Center (GARD)

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Neurofibromatosis type 1

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Other Names for this Disease
  • NF1
  • Recklinghausen's disease
  • Type 1 neurofibromatosis
  • Von Recklinghausen disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I was recently diagnosed with neurofibromatosis type 1. Due to my mild symptoms, I believe that I may have segmental neurofibromatosis. Is there a test which can confirm this diagnosis?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is segmental neurofibromatosis?

Segmental or regional neurofibromatosis is a rare form of neurofibromatosis where only part of the body is affected. People with this condition often have some of the skin features associated with neurofibromatosis (i.e. café-au-lait spots, skin fold freckling, and/or neurofibromas) confined to a certain area of the body. The affected area can vary in size from a narrow strip to half of the body. Segmental neurofibromatosis is thought to be due to a change (mutation) in the NF1 gene that occurs after conception and is, therefore, not inherited. However, there is a small risk that the affected person can pass the mutation on to the next generation as people with segmental neurofibromatosis whose children have typical neurofibromatosis type 1 have been reported. Treatment is based on the severity of the condition and the signs and symptoms present in each person.[1][2]
Last updated: 7/20/2015

What causes segmental neurofibromatosis?

Segmental neurofibromatosis is thought to be caused by mosaicism for a somatic change (mutation) in the NF1 gene. Unlike inherited mutations, somatic mutations develop at some point after conception and are not passed down from an affected parent.[2]

In some cases, the restriction of features to one part of the body may be due to chance in a person with neurofibromatosis type 1.[2]
Last updated: 7/20/2015

Is segmental neurofibromatosis inherited?

Segmental neurofibromatosis is thought to be due to somatic mutations in the NF1 gene, which develop at some point after conception and are not inherited from an affected parent. People with segmental neurofibromatosis usually have a low risk of passing the condition on to their children because the mutation is typically not present in egg or sperm cells. However, people with segmental neurofibromatosis whose children have typical neurofibromatosis type 1 have been reported.[2]
Last updated: 7/20/2015

Is there a test which can distinguish between neurofibromatosis type 1 and segmental neurofibromatosis?

People with segmental neurofibromatosis have the NF1 gene change (mutation) in only certain cells of the body. On the other hand, a person with neurofibromatosis type 1 will have the mutation in all of their cells. To test for neurofibromatosis type 1, a blood test can be done to look for a mutation in the NF1 gene. For a person with segmental neurofibromatosis, a blood test may not be able to find a mutation. Instead of using blood, a small sample (biopsy) of affected skin or tumor can be tested for the NF1 mutation.[3]
Last updated: 7/20/2015

References
Other Names for this Disease
  • NF1
  • Recklinghausen's disease
  • Type 1 neurofibromatosis
  • Von Recklinghausen disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.