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Brooke-Spiegler

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

Abstract

Brooke-Spiegler syndrome refers to a syndromic presentation of benign adnexal tumors such as cylindromas, eccrine spiradenomas, and trichepitheliomas [1]. Patients can also present with major and minor salivary gland tumors and rarely with mammary cylindromas [2, 3]. The cause is a genetic mutation in the CYLD gene, a tumor suppressor gene, and is inherited in an autosomal dominant fashion with variable penetrance [1–3]. Patients commonly present with tumors during adolescence but continue to develop lesions into adulthood [2, 3].

References

  1. 1.
    Dubois A, Wilson V, Bourn D, Rajan N. CYLD genetic testing for Brooke-Spiegler syndrome, familial cylindromatosis and multiple familial trichoepitheliomas. PLoS Curr. 2015;7. pii: ecurrents.eogt.45c4e63dd43d62e12228cc5264d6a0db. https://doi.org/10.1371/currents.eogt.45c4e63dd43d62e12228cc5264d6a0db.
  2. 2.
    Guardoli D, Argenziano G, Ponti G, et al. A novel CYLD germline mutation in Brooke-Spiegler syndrome. J Eur Acad Dermatol Venereol. 2015;29(3):457–62.CrossRefGoogle Scholar
  3. 3.
    Kazakov DV. Brooke-Spiegler syndrome and phenotypic variants: an update. Head Neck Pathol. 2016;10(2):125–30.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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