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Nevoid Basal Cell Carcinoma (Gorlin) Syndrome

  • Reference work entry
  • First Online:
Dermatopathology

Part of the book series: Encyclopedia of Pathology ((EP))

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Synonyms

Basal cell carcinoma syndrome; Gorlin syndrome; Gorlin-Goltz syndrome; Multiple basal cell carcinoma syndrome; Naevoid basal cell carcinoma (Gorlin) syndrome

Definition

Nevoid basal cell carcinoma syndrome is a genetic disease inherited in an autosomal dominant fashion with complete penetrance and variable expressivity. It is characterized by multiple basal cell carcinomas presenting at an early age, odontogenic keratocysts of the jaw, pits of the hands and feet, ectopic calcification with lamellar calcification of the falx cerebri, skeletal abnormalities, and facial dysmorphism (macrocephaly, cleft lip/palate, eye anomalies).

Clinical Features

  • Incidence

    The prevalence of nevoid basal cell carcinoma syndrome is estimated to range between l in 30,000 and 1 in 250,000. About 70–80 % of patients have an affected parent and about 20–30 % have a de novo mutation.

  • Age

    Basal cell carcinomas, odontogenic keratocysts, and palmar and plantar pits start to develop in childhood or...

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References and Further Reading

  • Atwood, S. X., Chang, A. L., & Oro, A. E. (2012). Hedgehog pathway inhibition and the race against tumor evolution. J Cell Biol, 199, 193–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Bree, A. F., & Shah, M. R. (2011). BCNS Colloquium group. Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). Am J Med Genet A, 155A, 2091–2097.

    Article  PubMed  Google Scholar 

  • Kim, J., Aftab, B. T., Tang, J. Y., Kim, D., Lee, A. H., Rezaee, M., Kim, J., Chen, B., King, E. M., Borodovsky, A., Riggnins, G. J., Epstein, E. H. Jr, Beachy, P. A., & Rudin, C. M. (2013). Itraconazole and arsenic trioxide inhibit Hedgehog pathway activation and tumor growth associated with acquired resistance to smoothened antagonists. Cancer Cell, 23, 23–34.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kimonis, V. E., Goldstein, A. M., Pastakia, B., Yang, M. L., Kase, R., DiGiovanna, J. J., Bale, A. E., & Bale, S. J. (1997). Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. American Journal of Medical Genetics, 69, 299–308.

    Article  CAS  PubMed  Google Scholar 

  • Lo Muzio, L. (2008). Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet Journal of Rare Diseases, 3, 32.

    Article  PubMed  PubMed Central  Google Scholar 

  • Tang, J. Y., Mackay-Wiggan, J. M., Aszterbaum, M., Yauch, R. L., Lindgren, J., Chang, K., Coppola, C., Chanana, A. M., Marji, J., Bickers, D. R., & Epstein, E. H. jr (2012). Inhibiting the hedgehog pathway in patients with basal-cell nevus syndrome. N Engl J Med, 366, 2180–9.

    Google Scholar 

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Author information

Authors and Affiliations

  1. Center for Dermatopathology, Engelbergerstr. 19, 79106, Freiburg, Germany

    Wolfgang Weyers

Authors
  1. Wolfgang Weyers
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Corresponding author

Correspondence to Wolfgang Weyers .

Editor information

Editors and Affiliations

  1. Division of Pathological Anatomy, Department of Surgery and Translational Medicine, University of Florence, School of Human Health Sciences, Florence, Italy

    Daniela Massi

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© 2016 Springer International Publishing Switzerland

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Weyers, W. (2016). Nevoid Basal Cell Carcinoma (Gorlin) Syndrome. In: Massi, D. (eds) Dermatopathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-30006-1_451

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  • DOI: https://doi.org/10.1007/978-3-319-30006-1_451

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-30005-4

  • Online ISBN: 978-3-319-30006-1

  • eBook Packages: MedicineReference Module Medicine

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