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Trichoepithelioma, multiple familial, 1(MFT1)

MedGen UID:
979606
Concept ID:
CN296585
Disease or Syndrome
Synonym: MFT1
 
Gene (location): CYLD (16q12.1)
 
Monarch Initiative: MONDO:0042977
OMIM®: 601606

Authors:

Additional description

From OMIM
Multiple familial trichoepithelioma (MFT), also called epithelioma adenoides cysticum (EAC), is an autosomal dominant dermatosis characterized by the presence of many skin tumors predominantly on the face. Since histologic examination shows dermal aggregates of basaloid cells with connection to or differentiation toward hair follicles, this disorder has been thought to represent a benign hamartoma of the pilosebaceous apparatus. Trichoepitheliomas can degenerate into basal cell carcinoma (Johnson and Bennett, 1993). Because BRSS, familial cylindromatosis, and MFT1 are allelic, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008). Blake and Toro (2009) provided a detailed review of the spectrum of disorders associated with CYLD mutations.  http://www.omim.org/entry/601606

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Nagy N, Farkas K, Kemény L, Széll M
Eur J Med Genet 2015 May;58(5):271-8. Epub 2015 Mar 14 doi: 10.1016/j.ejmg.2015.02.010. PMID: 25782638
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VIETA JO, MAIER HC
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Etiology

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Arefi M, Wilson V, Muthiah S, Zwolinski S, Bajwa D, Brennan P, Blasdale K, Bourn D, Burn J, Santibanez-Koref M, Rajan N
J Am Acad Dermatol 2019 Dec;81(6):1300-1307. Epub 2019 May 11 doi: 10.1016/j.jaad.2019.05.021. PMID: 31085270Free PMC Article
Tolkachjov SN, Drage LA, Gibson LE, Camilleri MJ, Wetter DA
Am J Dermatopathol 2017 Dec;39(12):943-944. doi: 10.1097/DAD.0000000000000626. PMID: 29189319
Humphreys T
Skinmed 2010 Sep-Oct;8(5):289-90. PMID: 21137639
Wall NR, Shi Y
Lancet 2003 Oct 25;362(9393):1401-3. doi: 10.1016/S0140-6736(03)14637-5. PMID: 14585643

Diagnosis

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Int J Dermatol 2015 Mar;54(3):275-8. Epub 2014 Dec 16 doi: 10.1111/ijd.12600. PMID: 25515269

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Dreyfus I, Onnis G, Tournier E, Dereure O, Mazereeuw-Hautier J
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Baur V, Papadopoulos T, Kazakov DV, Agaimy A, Hartmann A, Isbary G, Wirtz RM, Schultz ES
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Prognosis

Srikantharajah T, Skovby F, Behrendt N, Jemec GBE, Saunte DM
Acta Dermatovenerol Alp Pannonica Adriat 2020 Sep;29(3):133-140. PMID: 32975300
Arefi M, Wilson V, Muthiah S, Zwolinski S, Bajwa D, Brennan P, Blasdale K, Bourn D, Burn J, Santibanez-Koref M, Rajan N
J Am Acad Dermatol 2019 Dec;81(6):1300-1307. Epub 2019 May 11 doi: 10.1016/j.jaad.2019.05.021. PMID: 31085270Free PMC Article
Reuven B, Margarita I, Dov H, Ziad K
Am J Dermatopathol 2013 Jun;35(4):445-7. doi: 10.1097/DAD.0b013e31827132af. PMID: 23694822
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Humphreys T
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Clinical prediction guides

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Acta Dermatovenerol Alp Pannonica Adriat 2020 Sep;29(3):133-140. PMID: 32975300
Zaballos P, Gómez-Martín I, Martin JM, Bañuls J
Dermatol Clin 2018 Oct;36(4):397-412. Epub 2018 Aug 16 doi: 10.1016/j.det.2018.05.007. PMID: 30201149
Reuter S, Maxeiner J, Meyer-Martin H, Michel A, Baars P, Bopp T, Waisman A, Reissig S, Wehler TC, Schild H, Taube C, Stassen M, Becker M
Cell Immunol 2016 Oct;308:27-34. Epub 2016 Jun 25 doi: 10.1016/j.cellimm.2016.06.003. PMID: 27372382
Nagy N, Farkas K, Kemény L, Széll M
Eur J Med Genet 2015 May;58(5):271-8. Epub 2015 Mar 14 doi: 10.1016/j.ejmg.2015.02.010. PMID: 25782638
Biggs PJ, Wooster R, Ford D, Chapman P, Mangion J, Quirk Y, Easton DF, Burn J, Stratton MR
Nat Genet 1995 Dec;11(4):441-3. doi: 10.1038/ng1295-441. PMID: 7493027

Recent systematic reviews

Singh DD, Naujoks C, Depprich R, Schulte KW, Jankowiak F, Kübler NR, Handschel J
J Craniomaxillofac Surg 2013 Sep;41(6):516-21. Epub 2012 Dec 21 doi: 10.1016/j.jcms.2012.11.016. PMID: 23260808

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