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    Neurofibromatosis Type 1 (NF1)

    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.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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