Nevoid Basal Cell Carcinoma (Gorlin) Syndrome

Robert J Gorlin, University of Minnesota School of Dentistry, Minneapolis, Minnesota, USA

Published online: January 2006

DOI: 10.1038/npg.els.0006082

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
    Bialer MG, Gailani MR, McLaughlin JA, Petrikovsky B and Bale AE (1994) Prenatal diagnosis of Gorlin syndrome. The Lancet 344: 477.
    Cohen Jr MM (1999) Nevoid basal cell carcinoma syndrome: molecular biology and new hypotheses. International Journal of Oral and Maxillofacial Surgery 28: 216–233.
    Evans DGR, Ladusaris EJ, Rimmer S, et al. (1993) Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. Journal of Medical Genetics 30: 460–464.
    Farndon PA, Del Mastro RG, Evans DGR and Kilpatrick MW (1992) Location of gene for Gorlin syndrome. The Lancet 339: 581–582.
    Gorlin RJ (1987) Nevoid basal-cell carcinoma syndrome. Medicine 66: 98–113.
    Gorlin RJ (1995) Nevoid basal cell carcinoma syndrome. Dermatologic Clinics 13: 113–125.
    Hogan RE, Tress B, Gonzales MF, King JO and Cook MJ (1996) Epilepsy in the nevoid basal cell carcinoma syndrome (Gorlin syndrome): report of a case due to focal neuronal heterotopia. Neurology 46: 574–576.
    Jarisch W (1894) Zur Lehre von den Hautgeschwülsten. Archives of Dermatology (Berlin) 28: 162–222.
    Kimonis VE, Goldstein AM, Pastakia B, et al. (1997) Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. American Journal of Medical Genetics 69: 299–308.
    Levanat S, Gorlin RJ, Fallet S, et al. (1996) A two-hit model for developmental defects in Gorlin syndrome. Nature Genetics 12: 85–87.
    Nishimo H, Gomez MR and Kelly PJ (1991) Is colloid cyst of the third ventricle a manifestation of nevoid basal cell carcinoma syndrome? Brain and Development 13: 368–370.
    Ratcliffe JF, Shanley S and Chevenix-Trench G (1995a) The prevalence of cervical and thoracic congenital skeletal abnormalities in basal cell naevus syndrome: a review of cervical and chest radiographs in 80 patients with BCNS. British Journal of Radiology 68: 596–599.
    Ratcliffe JF, Shanley S, Ferguson J and Chevenix-Trench G (1995b) The diagnostic implication of falcine calcification on plain skull radiographs of patients with basal cell naevus syndrome and the incidence of falcine calcification in their relatives and two control groups. British Journal of Radiology 68: 361–368.
    Reis A, Küster W, Linss G and Gebel E (1992) Localisation of the gene for naevoid basal-cell carcinoma syndrome. The Lancet 339: 617.
    Vabres P, Lacombe D, Rabinowitz LG, et al. (1995) The gene for Basex–Dupré–Christol syndrome maps to chromosome Xq. Journal of Investigative Dermatology 105: 87–91.
    White JC (1894) Multiple benign cystic epitheliomas. Journal of Cutaneous and Genito-urinary Diseases 12: 477–484.
    Wilson BD, Mang TS, Stoll H, et al. (1992) Photodynamic therapy for the treatment of basal cell carcinoma. Archives of Dermatology 128: 1597–1601.
 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
    ePath Patched homolog (Drosophila) (PTCH); Locus ID: 5727. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5727
    ePath Patched homolog (Drosophila) (PTCH); MIM number: 601309. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?601309

Related Sub-Topics:

Cell Biology of Cancer | Growth and Synthesis | Cell Biology of Organogenesis | Genes, Molecules and Cellular Processes | Developmental Disorders | Specific Genetic Disorders | Cancer Genetics | Quantitative Genetics
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Article Title: Nevoid Basal Cell Carcinoma (Gorlin) Syndrome
 
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]