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Basal Cell Nevus Syndrome

  • Tor Shwayder
  • Samantha L. Schneider
  • Devika Icecreamwala
  • Marla N. Jahnke
Chapter
  • 212 Downloads

Abstract

Basal Cell Nevus Syndrome (BCNS) (also known as Gorlin Syndrome) is a rare autosomal dominant disorder associated with basal cell skin cancers and other features. The incidence of BCNS reportedly varies from 1 in 57,000 to 1 in 256,000 [1]. The mutation associated with BCNS is in the PTCH1 gene, a tumor suppressor gene, which plays an important role during embryogenesis affecting cell proliferation, differentiation and cell fate. PTCH mutations have high penetrance but variable phenotypic expression [1].

References

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    Coulombe C, Gagnon LP, Larouche V, Dionne MC. Infantile-onset palmo-plantar basal cell carcinomas and pits in Gorlin syndrome. JAAD Case Rep. 2018;4(7):662–4. https://doi.org/10.1016/j.jdcr.2018.06.017.CrossRefGoogle Scholar
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    Sorensen A, Wolter S, Patel N, Hansen R, Price H. Dermoscopy for identification of basal cell carcinomas in basal cell nevus syndrome during carbon dioxide laser surgery. Pediatr Dermatol. 2016;33(1):109–11.CrossRefGoogle Scholar
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    Tang JY, Ally MS, Chanana AM, et al. Inhibition of the hedgehog pathway in patients with basal-cell nevus syndrome: final results from the multicentre, randomised, double-blind, placebo-controlled, phase 2 trial. Lancet Oncol. 2016;17(12):1720–31.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Tor Shwayder
    • 1
  • Samantha L. Schneider
    • 2
  • Devika Icecreamwala
    • 3
  • Marla N. Jahnke
    • 2
  1. 1.Pediatric DermatologyHenry Ford HospitalDetroitUSA
  2. 2.Department of DermatologyHenry Ford HospitalDetroitUSA
  3. 3.Icecreamwala DermatologyBerkeleyUSA

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