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Neurofibromatosis-1

NF1; Von Recklinghausen neurofibromatosis

 

Neurofibromatosis-1 (NF1) is an inherited disorder in which nerve tissue tumors (neurofibromas) form in the:

  • Bottom layer of skin ( subcutaneous tissue)
  • Nerves from the brain (cranial nerves) and spinal cord (spinal root nerves)

Causes

 

NF1 is an inherited disease. If either parent has NF1, each of their children has a 50% chance of having the disease.

NF1 also appears in families with no history of the condition. In these cases, it is caused by a new gene change (mutation) in the sperm or egg. NF1 is caused by problems with a gene for a protein called neurofibromin.

 

Symptoms

 

NF causes tissue along the nerves to grow uncontrollably. This growth can put pressure on affected nerves.

If the growths are in the skin, there are no major symptoms. If the growths are in other nerves or parts of the body, they can cause pain, severe nerve damage, and loss of function in the area the nerve affects. Problems with feeling or movement can occur, depending on which nerves are affected.

The condition can be very different from person to person, even among people in the same family who have the same NF1 gene change.

"Coffee-with-milk" ( café-au-lait ) spots are the hallmark symptom of NF. Many healthy people have one or two small café au lait spots. However, adults who have six or more spots that are bigger than 1.5 cm in diameter (0.5 cm in children) could have NF. In some people with the condition, these spots may be the only symptom.

Other symptoms may include:

  • Tumors of the eye, such as optic glioma
  • Seizures
  • Freckles in the underarm or groin
  • Large, soft tumors called plexiform neurofibromas, which may have a dark color and may spread under the surface of the skin
  • Pain (from affected nerves)
  • Small, rubbery tumors of the skin called nodular neurofibromas 

 

Exams and Tests

 

A health care provider who treats NF1 will diagnose this condition. The provider may be a:

  • Dermatologist
  • Developmental pediatrician
  • Geneticist
  • Neurologist

The diagnosis will most likely be made based on the unique symptoms and signs of NF.

Signs include:

  • Colored, raised spots (Lisch nodules) on the colored part (iris) of the eye
  • Fracture of the lower 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 brain or other affected sites
  • Other tests for complications

 

Treatment

 

There is no specific treatment for NF. 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.

 

Support Groups

 

For more information and resources, contact the Children's Tumor Foundation at www.ctf.org/ .

 

Outlook (Prognosis)

 

If there are no complications, the life expectancy of people with NF is almost normal. With the right education, people with NF can live a normal life.

Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder. Learning disabilities are a common problem.

Some people are treated differently because they have hundreds of tumors on their skin.

People with NF have an increased chance of developing severe tumors. In rare cases, these can shorten a person's lifespan.

 

Possible Complications

 

Complications can include:

  • 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

 

When to Contact a Medical Professional

 

Call your provider if:

  • You notice coffee-with-milk colored spots on your child's skin or any other symptoms of this condition.
  • You have a family history of NF and are planning to have children, or you would like to have your child examined.

 

Prevention

 

Genetic counseling is recommended for anyone with a family history of NF.

Annual eye, skin, back, nervous system (neurological) exams, and blood pressure monitoring are strongly recommended.

 

 

Open References

References

Friedman JM. Neurofibromatosis 1. GeneReviews . Seattle, WA. University of Washington. 2014:9. www.ncbi.nlm.nih.gov/books/NBK1109/ .

Islam MP, Roach ES. Neurocutaneous syndromes. In: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology in Clinical Practice . 7th ed. Philadelphia, PA: Elsevier; 2016:chap 100.

Sahin M. Neurocutaneous syndromes. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 596.

 
  • Neurofibroma

    Neurofibroma - illustration

    Neurofibroma is a tumor or growth located along a nerve or nervous tissue. It is an inherited disorder. If left unchecked, a neurofibroma can cause severe nerve damage leading to loss of function to the area stimulated by that nerve.

    Neurofibroma

    illustration

    • Neurofibroma

      Neurofibroma - illustration

      Neurofibroma is a tumor or growth located along a nerve or nervous tissue. It is an inherited disorder. If left unchecked, a neurofibroma can cause severe nerve damage leading to loss of function to the area stimulated by that nerve.

      Neurofibroma

      illustration

    A Closer Look

     
       

      Review Date: 8/16/2016

      Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics at the University of Alabama, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

      The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

       
       
       

       

       

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