Nevoid Basal Cell Carcinoma Syndrome
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.
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: 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/
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
- NBCCS
- BCNS
- Hermans-Herzberg phakomatosis
- Gorlin syndrome
- Gorlin-Goltz syndrome
- basal cell nevus syndrome
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/
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