Nevoid Basal Cell Carcinoma (Gorlin) Syndrome

Abstract

The nevoid basal cell carcinoma syndrome is characterized by numerous basal cell cancers and epidermal cysts of the skin, odontogenic keratocysts of the jaws, palmar and plantar pits, calcified dural folds, various neoplasms or hamartomas (ovarian fibromas, medulloblastoma, lymphomesenteric cysts, fetal rhabdomyomas, etc.) and various stigmata of maldevelopment (rib and vertebral abnormalities, cleft lip and/or palate, cortical defects of bones, etc.).

Keywords: nevoid basal cell carcinoma; medulloblastoma; cardiac fibroma; epidermal cysts; odontogenic keratocysts; ovarian fibromas; patched homolog (Drosophila)

References

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Further Reading

Ruizy Altaba A, Sanchez P and Dahmane N (2002) Gli hedgehog in cancer: tumours, embryos and stem cell. Nature Review Cancer 2: 361–372.

Taipale J, Cooper MK, Maiti T and Beach PA (2002) Patched acts catalytically to suppress the activity of Smoothened. Nature 418: 892–897.

Villavicencio EH, Waterhouse DO and Lannacone PM (2000) The sonic hedgehog‐patched‐gli pathway in human development and disease. American Journal of Human Genetics 67: 1047–1054.

Web Links

Patched homolog (Drosophila) (PTCH); Locus ID: 5727. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5727

Patched homolog (Drosophila) (PTCH); MIM number: 601309. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?601309

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How to Cite close
Gorlin, Robert J(Jan 2006) Nevoid Basal Cell Carcinoma (Gorlin) Syndrome. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0006082]