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Neurofibromatosis Type 1 (NF1)

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Neurofibromatosis Type 1 (NF1) is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • neurofibroma, multiple
  • neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome
  • peripheral neurofibromatosis
  • Recklinghausen's phakomatosis
  • Von Recklinghausen's disease
  • Von Recklinghausen's neurofibromatosis
  • NF1

Disorder Subdivisions

  • segmental neurofibromatosis

General Discussion

Neurofibromatosis type 1 (NF1), also called von Recklinghausen's disease, is a rare genetic disorder characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormally decreased or increased coloration (hypo- or hyperpigmentation) of the skin. Areas of abnormal pigmentation typically include pale tan or light brown discolorations (cafe-au-lait spots) on the skin of the trunk and other regions as well as freckling, particularly under the arms (axillary) and in the groin (inguinal) area. Such abnormalities of skin pigmentation are often evident by one year of age and tend to increase in size and number over time.

At birth or early childhood, affected individuals may have relatively large benign tumors that consist of bundles of nerves (plexiform neurofibromas). Individuals with NF1 may also develop benign tumor-like nodules of the colored regions of the eyes (Lisch nodules) or tumors of the optic nerves (second cranial nerves), which transmit nerve impulses from the innermost, nerve-rich membrane of the eyes (retinas) to the brain. More rarely, affected individuals may develop certain malignant (cancerous) tumors.

NF1 may also be characterized by unusual largeness of the head (macrocephaly) and relatively short stature. Additional abnormalities may also be present, such as episodes of uncontrolled electrical activity in the brain (seizures); learning disabilities; speech difficulties; abnormally increased activity (hyperactivity); and skeletal malformations, including progressive curvature of the spine (scoliosis), bowing of the lower legs, and improper development of certain bones. In individuals with NF1, associated symptoms and findings may vary greatly in range and severity from case to case. Most people with NF1 have normal intelligence but learning disabilities appear in about 50% of children with NF1.

NF1 is caused by changes (mutations) of a relatively large gene on the long arm (q) of chromosome 17 (17q11.2). The gene regulates the production of a protein known as neurofibromin, which is thought to function as a tumor suppressor. In about 50 percent of individuals with NF1, the disorder results from spontaneous (sporadic) mutations of the gene that occur for unknown reasons. In others with the disorder, NF1 is inherited as an autosomal dominant trait.

The name "neurofibromatosis" is sometimes used generally to describe NF1 as well as a second, distinct form of NF known as neurofibromatosis Type II (NF2). Also an autosomal dominant disorder, NF2 is primarily characterized by benign tumors of both acoustic nerves, leading to progressive hearing loss. The auditory nerves (eight cranial nerves) transmit nerve impulses from the inner ear to the brain.

Resources

Children's Tumor Foundation
95 Pine Street
16th Floor
New York, NY 10005-4002
Tel: (212)344-6633
Fax: (212)747-0004
Tel: (800)323-7938
TDD: (212)344-6633
Email: info@ctf.org
Internet: http://www.ctf.org/

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Neurofibromatosis, Inc.
213 S. Wheaton Ave.
Wheaton, IL 60187
USA
Tel: (630)510-1115
Fax: (630)510-8508
Tel: (800)942-6825
Email: admin@nfnetwork.org
Internet: http://www.nfnetwork.org

Neurofibromatosis Clinic at Texas Children's Hospital
6701 Fannin Street, #1560
Houston, TX 77030
Tel: (832)822-4280
Tel: (800)364-5437
Email: plunkett@bcm.edu
Internet: http://www.texaschildrens.org/Locate/Departments-and-Services/Genetic-Disorders/Neurofibromatosis-Clinic/

Cedars-Sinai Medical Genetics Institute
8700 Beverly Blvd
PACT Suite 400
Los Angeles, CA 90048
USA
Tel: (310)423-9914
Fax: (310)423-2080
Tel: (800)233-2771
Internet: http://www.cedars-sinai.edu/Patients/Programs-and-Services/Medical-Genetics-Institute/

Neurofibromatosis Clinic
The Children's Hospital of Philadelphia
34th Street and Civic Center Boulevard
Room 9028
Philadelphia, PA 19104
Tel: (215)590-2920
Tel: (800)879-2467
Internet: http://www.chop.edu/healthinfo/fibromatosis-and-desmoid-tumors.html or http://www.chop.edu/service/neurofibromatosis/home.html

Children's National Medical Center
Genetics Department
Attn: Kenneth Rosenbaum MD
111 Michigan Ave. NW
Suite 1950
Washington, DC 20010
Tel: (202)476-2327
Tel: (888)884-2327
Email: tbear@cnmc.org
Internet: http://www.childrensnational.org/

NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Internet: http://www.ninds.nih.gov/

Massachusetts General Hospital Neurofibromatosis Clinic
15 Parkman St. 8th Floor, Room 835
Boston, MA 02114
USA
Tel: (617)724-7856
Fax: (617)724-8769
Email: SPlotkin@partners.org
Internet: http://neurosurgery.mgh.harvard.edu/NFclinic/

New England Consortium of Metabolic Programs
Children's Hospital Boston
1 Autumn Street, Room 525
Boston, MA 02115
USA
Tel: (617)355-7346
Fax: (617)730-0907
Email: vera.anastasoaie@childrens.harvard.edu_
Internet: http://www.newenglandconsortium.org

Comer Children's Hospital - University of Chicago (Neurofibromatosis Clinic)
Pediatric Neurology
5721 S. Maryland Avenue, MC3055
Chicago, IL 60637
USA
Tel: (773)834-8064
Fax: (773)702-4786
Email: cmacmill@peds.bsd.uchicago.edu
Internet: http://www.uchicagokidshospital.org/specialties/neurology/patient-guides/neurofibromatosis/

BC Neurofibromatosis Foundation
Box 5339
Victoria, BC, V8R 6S4
Canada
Tel: 800385BCNF (2263)
Email: info@bcnf.bc.ca
Internet: http://www.bcnf.bc.ca

Rare Cancer Alliance
1649 North Pacana Way
Green Valley, AZ 85614
USA
Internet: http://www.rare-cancer.org

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Tel: (650)462-3174
Fax: (650)462-3144
Email: info@letthemhear.org
Internet: http://www.letthemhear.org

Alberta Neurofibromatosis Association
636 Hunterfield Place NW
Calgary
Alberta, T2K 4L6
Canada
Tel: 4032754894
Tel: 8669392263
Email: pam@albertanf.org or cathy@albertanf.org
Internet: http://www.albertanf.org

Cancer.Net
American Society of Clinical Oncology
2318 Mill Road Suite 800
Alexandria, VA 22314
Tel: (571)483-1780
Fax: (571)366-9537
Tel: (888)651-3038
Email: contactus@cancer.net
Internet: http://www.cancer.net/

Medical Home Portal
Dept. of Pediatrics
University of Utah
P.O. Box 581289
Salt Lake City, UT 84158
Tel: (801)587-9978
Fax: (801)581-3899
Email: mindy.tueller@utah.edu
Internet: http://www.medicalhomeportal.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  2/5/2013
Copyright  1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992, 1993, 1994, 1995, 1996, 1997, 1998, 1999, 2000, 2002, 2005 National Organization for Rare Disorders, Inc.

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