MedlinePlus Medical Encyclopedia: Neurofibromatosis-1

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Neurofibromatosis-1

Contents of this page:
Illustrations Alternative names Definition Causes, incidence, and risk factors Symptoms Signs and tests	Treatment Support Groups Expectations (prognosis) Complications Calling your health care provider Prevention

Illustrations

Neurofibroma

Alternative names Return to top

NF1; von Recklinghausen neurofibromatosis

Definition Return to top

Neurofibromatosis-1 is an inherited disorder characterized by formation of neurofibromas (tumors involving nerve tissue) in the skin, subcutaneous tissue, cranial nerves, and spinal root nerves.

Causes, incidence, and risk factors Return to top

NF1 is an autosomal dominant trait, meaning that if either parent has NF1, their children have a 50% chance of inheriting the disease. NF1 also appears in families with no previous history of the condition, as a result of a new genetic mutation in the particular sperm or egg that created the child. NF1 is caused by abnormalities in one of the genes encoding a protein called neurofibromin.

Neurofibromatosis causes unchecked growth of neurofibromatous tissue in nerves, which can put pressure on affected nerves and cause pain and severe nerve damage. This leads to loss of function in the area served by the nerve. Problems with sensation or movement can occur as a result, depending on the particular nerves affected.

Symptoms Return to top

Symptoms can be extremely varied, depending on the age of the patient and severity of the disease.

Symptoms may include:

Mild impairment of intellectual function, attention deficit disorder
Fracture of the long bones of the leg in early childhood
"Coffee with milk" (cafe-au-lait) spots on the skin
Freckles in the underarm or groin
Convulsions
Pain (associated with affected peripheral nerves)
Blindness
Rubbery tumors of the skin called nodular neurofibromas
Soft tumors called plexiform neurofibromas which may have a darker color

Signs and tests Return to top

The diagnosis of neurofibromatosis is generally made based on physical findings. The cafe-au-lait spot (meaning literally the color of coffee with cream) is the hallmark of neurofibromatosis. Although many healthy people have 1 or 2 small cafe-au-lait spots, adults with 6 or more spots greater than 1.5 cm in diameter are likely to have neurofibromatosis.

Other signs include:

Freckling in the armpits, groin, or underneath the breast in women
Multiple soft tumors apparent on the skin or deeper in the body viewed by radiologic testing (scans)
Soft nodules under the skin
Large infiltrating tumors under the skin (plexiform neurofibromas) which can cause disfigurement
Pigmented, raised spots on the colored part (iris) of the eye (Lisch nodules)

Tests may include:

Examination by a doctor familiar with NF1, such as a neurologist, geneticist, or dermatologist
Eye exam by an ophthalmologist familiar with NF1
MRI of the affected site
Removal of skin lesions
Other specific tests associated with complications
Genetic testing that demonstrates a mutation in the neurofibromin gene

Treatment Return to top

There is no specific treatment for neurofibromatosis. Tumors that cause pain or loss of function are removed on an individual basis. Tumors that have grown rapidly should be removed promptly as they may become malignant. Experimental treatments for severe tumors are under investigation.

Special schooling for those with learning disorders and/or attention-deficit disorder may be required in some cases. Annual eye exams are strongly recommended.

Support Groups Return to top

For more information and resources, contact the National Neurofibromatosis Foundation.

Expectations (prognosis) Return to top

The life expectancy of people with neurofibromatosis is almost normal, barring complications. Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder in a minority of patients.

With appropriate education and job expectations, people with neurofibromatosis can live a normal life. Some individuals manifest hundreds of tumors on their skin and are subject to stigmatization by society because of the way they look.

Patients with neurofibromatosis have an increased chance of developing severe tumors which, rarely, can shorten life span.

Complications Return to top

Blindness caused by a tumor in an optic nerve (optic glioma)
Malignant transformation of tumors (in approximately 5-10% of affected individuals)
Chance of pheochromocytoma, which causes very high blood pressure
Loss of nerve function in nerves where a neurofibroma's growth has caused prolonged pressure on the nerve
Attention deficit hyperactivity disorder (ADHD)
Cosmetically significant tumors of the face, skin, and other exposed areas
Bowing or breakage of the leg bones with poor healing
Scoliosis or curvature of the spine

Calling your health care provider Return to top

Call your health care provider if you notice coffee-with-cream colored spots on your child's skin or any of the signs listed here. Also call if you have a family history of neurofibromatosis and are planning to have children or would like to have your child examined.

Prevention Return to top

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

Update Date: 7/26/2004

Updated by: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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