PDF《Genetics》

2 Diagnosis & Management Genetic Testing Information ? What is genetic testing? /primer/testing/genetictesting ? Genetic Testing Registry: Familial multiple trichoepitheliomata https://www.ncbi.nlm.nih.gov/gtr/conditions/C1275122/ ? Genetic Testing Registry: Trichoepithelioma multiple familial

2 https://www.ncbi.nlm.nih.gov/gtr/conditions/C2677505/ Additional Information & Resources Health Information from MedlinePlus ? Health Topic: Benign Tumors https://medlineplus.gov/benigntumors.html ? Health Topic: Skin Conditions https://medlineplus.gov/skinconditions.html Genetic and Rare Diseases Information Center ? Multiple familial trichoepithelioma https://rarediseases.info.nih.gov/diseases/10867/multiple-familial-trichoepithelioma Educational Resources ? American Cancer Society: Skin Cancer https://www.cancer.org/cancer/basal-and-squamous-cell-skin-cancer.html ? MalaCards: multiple familial trichoepithelioma https://www.malacards.org/card/multiple_familial_trichoepithelioma ? Orphanet: Familial multiple trichoepithelioma https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=867 Patient Support and Advocacy Resources ? AboutFace https://www.aboutface.ca/ ? Skin Cancer Foundation https://www.skincancer.org/ page

3 Scientific Articles on PubMed ? PubMed https://www.ncbi.nlm.nih.gov/pubmed?term=%28Skin+Neoplasms%5BMAJR%5D %29+AND+%28%28multiple+familial+trichoepithelioma%5BTIAB%5D%29+OR+ %28mft%5BTIAB%5D%29+OR+%28epithelioma+adenoides+cysticum+of+brooke %5BTIAB%5D%29+OR+%28eac%5BTIAB%5D%29%29+AND+english%5Bla%5D +AND+human%5Bmh%5D+AND+%22last+3600+days%22%5Bdp%5D Catalog of Genes and Diseases from OMIM ? TRICHOEPITHELIOMA, MULTIPLE FAMILIAL,

1 http://omim.org/entry/601606 ? TRICHOEPITHELIOMA, MULTIPLE FAMILIAL,

2 http://omim.org/entry/612099 Sources for This Summary ? Almeida S, Maillard C, Itin P, Hohl D, Huber M. Five new CYLD mutations in skin appendage tumors and evidence that aspartic acid

681 in CYLD is essential for deubiquitinase activity. J Invest Dermatol.

2008 Mar;

128(3):587-93. Epub

2007 Sep 13. Citation on PubMed: https://www.ncbi.nlm.nih.gov/pubmed/17851586 ? 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. Citation on PubMed: https://www.ncbi.nlm.nih.gov/pubmed/15854031 ? Huang TM, Chao SC, Lee JY. A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma. Clin Exp Dermatol.

2009 Jan;

34(1):77-80. doi: 10.1111/ j.1365-2230.2008.02870.x. Review. Citation on PubMed: https://www.ncbi.nlm.nih.gov/pubmed/19076795 ? 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 biological study, including CYLD and PTCH gene analysis, of a series of

16 patients. Am J Dermatopathol.

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]. Citation on PubMed: https://www.ncbi.nlm.nih.gov/pubmed/21389835 ? Lee DA, Grossman ME, Schneiderman P, Celebi JT. Genetics of skin appendage neoplasms and related syndromes. J Med Genet.

2005 Nov;

42(11):811-9. Review. Citation on PubMed: https://www.ncbi.nlm.nih.gov/pubmed/16272260 Free article on PubMed Central: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735949/ ? Lee KH, Kim JE, Cho BK, Kim YC, Park CJ. Malignant transformation of multiple familial trichoepithelioma: case report and literature review. Acta Derm Venereol. 2008;