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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
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Overview


Nevoid basal cell carcinoma syndrome is a type of genetic tumor syndrome. Signs and symptoms include an increased risk for certain types of noncancerous and cancerous tumors, skin pits in the palms of the hands and soles of the feet, large head size, and bone abnormalities involving the spine, ribs, or skull. Nevoid basal cell carcinoma syndrome is caused by a mutation in the gene PTCH1.  It is inherited in an autosomal dominant fashion.[1]
Last updated: 7/23/2010

References

  1. Gorlin syndrome. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition/gorlin-syndrome. Accessed 6/23/2010.
  2. Sparks SE, Krasnewich DM. Nevoid Basal Cell Carcinoma. GeneReviews. 2002; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns. Accessed 7/23/2010.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 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