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Genetic and Rare Diseases Information Center (GARD)

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Nevoid basal cell carcinoma syndrome


Other Names for this Disease

  • Basal Cell Nevus Syndrome
  • Fifth Phacomatosis
  • Gorlin Syndrome
  • Gorlin-Goltz Syndrome
  • Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Nevoid basal cell carcinoma syndrome (NBCCS) is a condition that increases the risk to develop various cancerous and noncancerous tumors. The most common cancer diagnosed in affected people is basal cell carcinoma, which often develops during adolescence or early adulthood. People with NBCCS may also have benign jaw tumors called keratocystic odontogenic tumors. Other tumors that may occur include medulloblastomas, and fibromas in the heart or ovaries. Additional features in people with NBCCS may include skin pits on the hands and feet; large head size (macrocephaly); and/or bone abnormalities of the spine, ribs, or skull. NBCCS is inherited in an autosomal dominant manner and is caused by mutations in the PTCH1 gene.[1]
Last updated: 7/16/2014

References

  1. Gorlin syndrome. Genetics Home Reference. October, 2012; http://ghr.nlm.nih.gov/condition/gorlin-syndrome. Accessed 7/16/2014.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

2 question(s) from the public on Nevoid basal cell carcinoma syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Nevoid basal cell carcinoma syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • The American Society of Clinical Oncology has developed an information page on nevoid basal cell carcinoma syndrome. Click on the link above to view the information page

In Depth Information

  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • eMedicine has two articles on this topic from the perspective of pediatric oncology and dermatology. You may need to register to view the information online, but registration is free. Click on the links above to view the articles from this medical reference Web site.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Nevoid basal cell carcinoma syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

  • The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.
Other Names for this Disease
  • Basal Cell Nevus Syndrome
  • Fifth Phacomatosis
  • Gorlin Syndrome
  • Gorlin-Goltz Syndrome
  • Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.