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Yang, C. Brooke-Spiegler Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5037 (accessed on 22 September 2026).
Yang C. Brooke-Spiegler Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5037. Accessed September 22, 2026.
Yang, Catherine. "Brooke-Spiegler Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5037 (accessed September 22, 2026).
Yang, C. (2020, December 24). Brooke-Spiegler Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5037
Yang, Catherine. "Brooke-Spiegler Syndrome." Encyclopedia. Web. 24 December, 2020.
Brooke-Spiegler Syndrome
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/brooke-spiegler-syndrome

Brooke-Spiegler syndrome is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. Spiradenomas develop in sweat glands. Trichoepitheliomas arise from hair follicles. The origin of cylindromas has been unclear; while previously thought to derive from sweat glands, they are now generally believed to begin in hair follicles. The tumors associated with Brooke-Spiegler syndrome are generally noncancerous (benign), but occasionally they may become cancerous (malignant). Affected individuals are also at increased risk of developing tumors in tissues other than skin appendages, particularly benign or malignant tumors of the salivary glands.

genetic conditions

References

  1. Almeida S, Maillard C, Itin P, Hohl D, Huber M. Five new CYLD mutations inskin appendage tumors and evidence that aspartic acid 681 in CYLD is essentialfor deubiquitinase activity. J Invest Dermatol. 2008 Mar;128(3):587-93.
  2. Blake PW, Toro JR. Update of cylindromatosis gene (CYLD) mutations inBrooke-Spiegler syndrome: novel insights into the role of deubiquitination incell signaling. Hum Mutat. 2009 Jul;30(7):1025-36. doi: 10.1002/humu.21024.Review.
  3. Bowen S, Gill M, Lee DA, Fisher G, Geronemus RG, Vazquez ME, Celebi JT.Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis,and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. J Invest Dermatol. 2005 May;124(5):919-20.
  4. Dubois A, Rajan N. CYLD Cutaneous Syndrome. 2020 Apr 16. In: Adam MP, ArdingerHH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK555820/
  5. Lee DA, Grossman ME, Schneiderman P, Celebi JT. Genetics of skin appendageneoplasms and related syndromes. J Med Genet. 2005 Nov;42(11):811-9. Review.
  6. Saggar S, Chernoff KA, Lodha S, Horev L, Kohl S, Honjo RS, Brandt HR, HartmannK, Celebi JT. CYLD mutations in familial skin appendage tumours. J Med Genet.2008 May;45(5):298-302. doi: 10.1136/jmg.2007.056127.
  7. Sima R, Vanecek T, Kacerovska D, Trubac P, Cribier B, Rutten A, Vazmitel M,Spagnolo DV, Litvik R, Vantuchova Y, Weyers W, Pearce RL, Pearn J, Michal M,Kazakov DV. Brooke-Spiegler syndrome: report of 10 patients from 8 families with novel germline mutations: evidence of diverse somatic mutations in the samepatient regardless of tumor type. Diagn Mol Pathol. 2010 Jun;19(2):83-91. doi:10.1097/PDM.0b013e3181ba2d96.
  8. Young AL, Kellermayer R, Szigeti R, Tészás A, Azmi S, Celebi JT. CYLDmutations underlie Brooke-Spiegler, familial cylindromatosis, and multiplefamilial trichoepithelioma syndromes. Clin Genet. 2006 Sep;70(3):246-9.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
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Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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