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Xu, R. Multiple Familial Trichoepithelioma. Encyclopedia. Available online: https://encyclopedia.pub/entry/4346 (accessed on 25 September 2026).
Xu R. Multiple Familial Trichoepithelioma. Encyclopedia. Available at: https://encyclopedia.pub/entry/4346. Accessed September 25, 2026.
Xu, Rita. "Multiple Familial Trichoepithelioma" Encyclopedia, https://encyclopedia.pub/entry/4346 (accessed September 25, 2026).
Xu, R. (2020, December 23). Multiple Familial Trichoepithelioma. In Encyclopedia. https://encyclopedia.pub/entry/4346
Xu, Rita. "Multiple Familial Trichoepithelioma." Encyclopedia. Web. 23 December, 2020.
Multiple Familial Trichoepithelioma
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/multiple-familial-trichoepithelioma

Multiple familial trichoepithelioma is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with multiple familial trichoepithelioma typically develop large numbers of smooth, round tumors called trichoepitheliomas, which arise from hair follicles. Trichoepitheliomas are generally noncancerous (benign) but occasionally develop into a type of skin cancer called basal cell carcinoma.

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. 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.
  3. Huang TM, Chao SC, Lee JY. A novel splicing mutation of the CYLD gene in aTaiwanese family with multiple familial trichoepithelioma. Clin Exp Dermatol.2009 Jan;34(1):77-80. doi: 10.1111/j.1365-2230.2008.02870.x. Review.
  4. Kazakov DV, Vanecek T, Zelger B, Carlson JA, Spagnolo DV, Schaller J, Nemcova J, Kacerovska D, Vazmitel M, Sangüeza M, Emberger M, Belousova I,Fernandez-Figueras MT, Kempf W, Meyer DR, Rütten A, Baltaci M, Michal M. Multiple(familial) trichoepitheliomas: a clinicopathological and molecular biologicalstudy, including CYLD and PTCH gene analysis, of a series of 16 patients. Am JDermatopathol. 2011 May;33(3):251-65. doi: 10.1097/DAD.0b013e3181f7d373. Erratum in: Am J Dermatopathol. 2011 Dec;33(8):874. Fernandez-Figueraz, Maria Tereza[corrected to Fernandez-Figueras, Maria Tereza].
  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. Lee KH, Kim JE, Cho BK, Kim YC, Park CJ. Malignant transformation of multiple familial trichoepithelioma: case report and literature review. Acta DermVenereol. 2008;88(1):43-6. doi: 10.2340/00015555-0322. Review.
  7. 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.
  8. Salhi A, Bornholdt D, Oeffner F, Malik S, Heid E, Happle R, Grzeschik KH.Multiple familial trichoepithelioma caused by mutations in the cylindromatosistumor suppressor gene. Cancer Res. 2004 Aug 1;64(15):5113-7.
  9. 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.
  10. Zhang XJ, Liang YH, He PP, Yang S, Wang HY, Chen JJ, Yuan WT, Xu SJ, Cui Y,Huang W. Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. J Invest Dermatol. 2004Mar;122(3):658-64.
  11. Zheng G, Hu L, Huang W, Chen K, Zhang X, Yang S, Sun J, Jiang Y, Luo G, KongX. CYLD mutation causes multiple familial trichoepithelioma in three Chinesefamilies. Hum Mutat. 2004 Apr;23(4):400.
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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 : Rita Xu
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Update Date: 23 Dec 2020
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