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.
basal cell nevus syndrome
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.
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: firstname.lastname@example.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: email@example.com 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: firstname.lastname@example.org 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: email@example.com 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: firstname.lastname@example.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: email@example.com 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 firstname.lastname@example.org
Last Updated: 3/13/2013 Copyright 1990, 1995, 1996, 2004, 2013 National Organization for Rare Disorders, Inc.
How this information was developed to help you make better health decisions.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.