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    Nevoid Basal Cell Carcinoma Syndrome

    Important
    It is possible that the main title of the report Nevoid Basal Cell Carcinoma Syndrome 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

    Disorder Subdivisions

    • None

    General Discussion

    Summary
    The nevoid basal cell carcinoma syndrome (NBCCS) is a rare, complex genetic disorder characterized by a wide variety of developmental abnormalities and a predisposition to developing certain forms of cancer, particularly a type of skin cancer known as basal cell carcinoma. The specific symptoms and severity of NBCCS can vary greatly from one individual to another, even among members of the same family. Multiple organ systems can become involved. Common symptoms include multiple basal cell carcinomas, recurrent keratocystic odontogenic tumors of the jaws, pits of the palms and soles, and skeletal malformations. Some affected individuals may have distinctive facial features. The onset of specific symptoms can vary occurring anywhere from infancy through adulthood. NBCCS is caused by mutations in the PTCH1 gene and is inherited as an autosomal dominant trait, but a significant fraction of cases are sporadic (due to new mutations) with no previous family history.

    Introduction
    In 1894, the first patients with NBCCS were described in the medical literature by two different doctors. However, it was not until 1960 that two physicians (Drs. Robert Gorlin and Robert Goltz) wrote the first in-depth description of NBCCS as a distinct clinical entity. Consequently, the disorder is also known as Gorlin syndrome or Gorlin-Goltz syndrome. Over the years, case reports and series have continued to expand the range of symptoms and physical findings that can be associated with NBCCS, and there are now more than 100 different recognized features.

    Resources

    Skin Cancer Foundation
    149 Madison Avenue
    Suite 901
    New York, NY 10016
    Tel: (212)725-5176
    Fax: (212)725-5751
    Tel: (800)754-6490
    Email: info@skincancer.org
    Internet: http://www.skincancer.org

    American Cancer Society, Inc.
    250 Williams NW St
    Ste 6000
    Atlanta, GA 30303
    USA
    Tel: (404)320-3333
    Tel: (800)227-2345
    TDD: (866)228-4327
    Internet: http://www.cancer.org

    National Cancer Institute
    6116 Executive Blvd Suite 300
    Bethesda, MD 20892-8322
    USA
    Tel: (301)435-3848
    Tel: (800)422-6237
    TDD: (800)332-8615
    Email: cancergovstaff@mail.nih.gov
    Internet: http://www.cancer.gov

    OncoLink: The University of Pennsylvania Cancer Center Resource
    3400 Spruce Street
    2 Donner
    Philadelphia, PA 19104-4283
    USA
    Tel: (215)349-8895
    Fax: (215)349-5445
    Email: hampshire@uphs.upenn.edu
    Internet: http://www.oncolink.upenn.edu

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

    Basal Cell Carcinoma Nevus Syndrome Life Support Network
    PO Box 321
    Burton, OH 44021
    USA
    Tel: (440)834-0011
    Fax: (440)834-0132
    Tel: (866)834-1895
    Email: info@bccns.org
    Internet: www.bccns.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/

    Gorlin Syndrome Group
    11 Blackberry Way
    Penwortham
    Preston
    Lancashire, PR1 9LQ
    United Kingdom
    Tel: 441772496849
    Internet: http://www.gorlingroup.org

    Friends of Cancer Research
    1800 M Street NW
    Suite 1050 South
    Washington, DC 22202
    Tel: (202)944-6700
    Email: info@focr.org
    Internet: http://www.focr.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/

    Cancer Support Community
    1050 17th St NW Suite 500
    Washington, DC 20036
    Tel: (202)659-9709
    Fax: (202)974-7999
    Tel: (888)793-9355
    Internet: http://www.cancersupportcommunity.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: 3/13/2013
    Copyright 1990, 1995, 1996, 2004, 2013 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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