Skip navigation
MedlinePlus Trusted Health Information for You U.S. National Library of MedicineNational Institutes of Health
Contact Us FAQs Site Map About MedlinePlus
español Home Health Topics Drugs & Supplements Medical Encyclopedia Dictionary News Directories Other Resources

 

Medical Encyclopedia

Other encyclopedia topics:  A-Ag  Ah-Ap  Aq-Az  B-Bk  Bl-Bz  C-Cg  Ch-Co  Cp-Cz  D-Di  Dj-Dz  E-Ep  Eq-Ez  F  G  H-Hf  Hg-Hz  I-In  Io-Iz  J  K  L-Ln  Lo-Lz  M-Mf  Mg-Mz  N  O  P-Pl  Pm-Pz  Q  R  S-Sh  Si-Sp  Sq-Sz  T-Tn  To-Tz  U  V  W  X  Y  Z  0-9 

Neurofibromatosis-1

Printer-friendly versionEmail this page to a friend
Contents of this page:

Illustrations

Neurofibroma
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    Return to top

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

Neurofibromatosis causes unchecked growth of tissue along the 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:

Exams 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 milk) 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:

Tests may include:

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.

Outlook (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.

Possible Complications    Return to top

When to Contact a Medical Professional    Return to top

Call your health care provider if you notice coffee-with-milk 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: 8/11/2006

Updated by: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.

A.D.A.M. Logo

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 1997-2008, A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.