Neurofibromatosis Type 1 (NF-1)

Important
It is possible that the main title of the report Neurofibromatosis Type 1 (NF-1) 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
NF-1
peripheral neurofibromatosis
Recklinghausen's phakomatosis
Von Recklinghausen's disease
Von Recklinghausen's neurofibromatosis

Disorder Subdivisions

segmental neurofibromatosis

General Discussion

Neurofibromatosis type 1 (NF-1), 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 NF-1 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.

NF-1 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 NF-1, associated symptoms and findings may vary greatly in range and severity from case to case. Most people with NF-1 have normal intelligence but learning disabilities appear in about 50% of children with NF-1.

NF-1 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 NF-1, the disorder results from spontaneous (sporadic) mutations of the gene that occur for unknown reasons. In others with the disorder, NF-1 is inherited as an autosomal dominant trait.

The name "neurofibromatosis" is sometimes used generally to describe NF-1 as well as a second, distinct form of NF known as neurofibromatosis Type II (NF-2). Also an autosomal dominant disorder, NF-2 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.
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Resources

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

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Neurofibromatosis, Inc.
P.O. Box 18246
Minneapolis, MN 55418-0246
USA
Tel: 3019184600
Tel: 8009426825
Email: info@nfinc.org
Internet: http://www.nfinc.org

Baylor College of Medicine Neurofibromatosis Clinic
Neurofibromatosis Clinic
1 Baylor Plaza
Houston, TX 77030
Tel: (713)799-6103

Cedars-Sinai Medical Genetics-Birth Defects Center
Medical Genetics
444 S. San Vincente Blvd
Suite 1001
Los Angeles, CA 90048
USA
Tel: 3104239914
Fax: 3104239939
Internet: http://www.cedars-sinai.edu/genetics

Children's Hospital (Philadelphia) Fibromatosis Clinic
Neurofibromatosis Clinic
Attn. Elaine Zackai M.D.
34th Street and Civic Center Blvd.
Room 9028
Philadelphia, PA 19104
Tel: (215)590-2920

Children's National Medical Center
Attn: Roger Packer, MD,
111 Michigan Ave. NW
Washington, DC 20010
Tel: (202)884-2390

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

Massachusetts General Hospital Neurofibromatosis Clinic
Attn: Scott Plotkin
55 Fruit Street
Yawkey Building
Boston, MA 02114
USA
Tel: 6177247856
Fax: 6177262353
Email: mpisa@partners.org
Internet: http://www.neurosurgery.mgh.harvard.edu/nfclinic

Boston Children's Hospital
Genetics Program
300 Longwood Avenue
Boston, MA 02115
USA
Tel: 6177356394

University of Chicago Neurofibromatosis Clinic
5839 South Maryland Avenue
MC 3055
Chicago, IL 60637
USA
Tel: 7732032344
Fax: 7737024786
Email: tonsgard@midway.uchicago.edu

BC Neurofibromatosis Foundation
203-1001 Cloverdale
Victoria, BC, Intl V8X 4C9
Canada
Tel: 205-370-7597
Fax: 205-370-7598
Tel: 800-385-BCNF (2263)
Email: bcnf@bcnf.bc.ca
Internet: http://www.bcnf.bc.ca

Sjældne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K, 1220
Denmark
Tel: 45 33 14 00 10
Fax: 45 33 14 55 09
Email: mail@sjaeldnediagnoser
Internet: http://www.raredisorders.dk

Let Them Hear Foundation
1900 University Ave #101
East Palo Alto, CA 94303
Tel: (650)462-3143
Fax: (650)462-3143
Tel: (877)735-2929
Email: info@letthemhear.org
Internet: http://www.letthemhear.org

Alberta Neurofibromatosis Association
636 Hunterfield Place NW
Rocky Mountain House
Calgary, Alberta
T2K 4L6
Canada
Tel: 403-722-3389
Tel: 866-939-2263
Email: pam@albertanf.org or cathy@albertanf.org
Internet: http://www.albertanf.org

American Association of Neurological Surgeons
5550 Meadowbrook Drive
Rolling Meadows, IL 60008-3852
Tel: (847)378-0500
Fax: (847)378-0600
Tel: (888)566-2267
Email: info@aans.org
Internet: http://www.NeurosurgeryToday.org and http://www.AANS.org

People Living With Cancer
1900 Duke Street
Suite 200
Alexandria, VA 22314
Tel: (703)299-0150
Fax: (703)684-8618
Tel: (888)651-3038
Email: contactus@plwc.org
Internet: http://www.plwc.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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: 2/3/2005
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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