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Neurofibromatosis-1 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)
NF1; Von Recklinghausen neurofibromatosis
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.
Neurofibromatosis 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" (cafe-au-lait) spots are the hallmark symptom of neurofibromatosis. Many healthy people have 1 or 2 small cafe-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 neurofibromatosis. In some people with the condition, these spots may be the only symptom.
Other symptoms may include:
- 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 doctor who treats NF1 will diagnose this condition. The doctor may be a:
- Developmental pediatrician
The diagnosis will usually be made based on the unique symptoms and signs of neurofibromatosis.
- 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 brain or other affected sites
- Other tests for complications
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.
If there are no complications, the life expectancy of people with neurofibromatosis is almost normal. With the right education, people with neurofibromatosis 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.
Patients with neurofibromatosis have an increased chance of developing severe tumors. In rare cases, these can shorten a person's lifespan.
- Attention deficit hyperactivity disorder (ADHD)
- Blindness caused by a in an optic nerve ()
- 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 health care 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 neurofibromatosis and are planning to have children, or you would like to have your child examined.
Genetic counseling is recommended for anyone with a family history of neurofibromatosis.
Annual eye, skin, back, nervous system (neurological) exams, and blood pressure monitoring are strongly recommended.
Friedman JM. Neurofibromatosis 1. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews. University of Washington, Seattle; 1998.
Sahin M. Neurocutaneous Syndromes. In: Kliegman RM, Stanton BF, St. Geme J, et al., eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 589.
- Last reviewed on 9/11/2014
- Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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