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Trichoepithelioma, multiple familial, 2

MedGen UID:
394303
•Concept ID:
C2677505
•
Disease or Syndrome
Synonym: Multiple familial trichoepithelioma
 
Monarch Initiative: MONDO:0012800
OMIM®: 612099

Definition

Multiple familial trichoepithelioma (MFT) is an autosomal dominant disorder of skin appendage tumors characterized by the appearance of trichoepitheliomas. See also MFT1 (601606), which is caused by mutations in the CYLD gene (605018) on chromosome 16q12-q13. [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission.
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
Expression and secretion of wild type and mutant GNE proteins in Dictyostelium discoideum.
Grover S, Aslam S, Sharma V, Arya R
CNS Neurol Disord Drug Targets 2014;13(7):1263-72. doi: 10.2174/1871527313666140917094905. PMID: 25230235
Skull invaders: when surgical pathology and neuropathology worlds collide.
Serracino HS, Kleinschmidt-Demasters BK
J Neuropathol Exp Neurol 2013 Jul;72(7):600-13. doi: 10.1097/NEN.0b013e318299c40f. PMID: 23771219
A clinicopathologic and molecular biologic study of patients presenting with few adnexal tumors (two to four) from the morphological spectrum of Brooke-Spiegler syndrome.
Kacerovska D, Vanecek T, Spagnolo DV, Bisceglia M, Zelger B, Michal M, Kazakov DV
Am J Dermatopathol 2013 Feb;35(1):19-24. doi: 10.1097/DAD.0b013e318255dd37. PMID: 22588548
Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.
Rajan N, Langtry JA, Ashworth A, Roberts C, Chapman P, Burn J, Trainer AH
Arch Dermatol 2009 Nov;145(11):1277-84. doi: 10.1001/archdermatol.2009.262. PMID: 19917957Free PMC Article

Diagnosis

Cylindroma spine metastasis: Long-term follow-up is required.
Riche M, Mathon B, Mokhtari K, Carpentier A, Amelot A
Neurochirurgie 2020 Feb;66(1):45-49. Epub 2019 Oct 18 doi: 10.1016/j.neuchi.2019.09.024. PMID: 31634508
Trichoblastic carcinoma arising in trichoepithelioma in Brooke-Spiegler syndrome.
Leelamma JP, Sundaram S, Kandasamy S
Indian J Pathol Microbiol 2019 Apr-Jun;62(2):313-318. doi: 10.4103/IJPM.IJPM_639_17. PMID: 30971565
Trichoepithelioma: A Comprehensive Review.
Karimzadeh I, Namazi MR, Karimzadeh A
Acta Dermatovenerol Croat 2018 Jun;26(2):162-165. PMID: 29989874
Multiple Familial Trichoepithelioma Successfully Treated With CO(2) Laser and Imiquimod.
McGee JS, Suchter MF, Milgraum SS
Skinmed 2016;14(6):467-468. Epub 2016 Dec 1 PMID: 28031139
Multiple facial cylindromas: a case report.
Nath AK, Udayashankar C
Dermatol Online J 2012 Feb 15;18(2):8. PMID: 22398229

Therapy

A case of multiple familial trichoepitheliomas responding to treatment with the Hedgehog signaling pathway inhibitor vismodegib.
Baur V, Papadopoulos T, Kazakov DV, Agaimy A, Hartmann A, Isbary G, Wirtz RM, Schultz ES
Virchows Arch 2018 Aug;473(2):241-246. Epub 2018 Jun 22 doi: 10.1007/s00428-018-2397-y. PMID: 29934657
Tropomyosin Receptor Antagonism in Cylindromatosis (TRAC), an early phase trial of a topical tropomyosin kinase inhibitor as a treatment for inherited CYLD defective skin tumours: study protocol for a randomised controlled trial.
Cranston A, Stocken DD, Stamp E, Roblin D, Hamlin J, Langtry J, Plummer R, Ashworth A, Burn J, Rajan N
Trials 2017 Mar 7;18(1):111. doi: 10.1186/s13063-017-1812-z. PMID: 28270164Free PMC Article
Use of topical sirolimus in the management of multiple familial trichoepitheliomas.
Tu JH, Teng JM
Dermatol Ther 2017 Mar;30(2) Epub 2017 Jan 30 doi: 10.1111/dth.12458. PMID: 28133868
Multiple Familial Trichoepithelioma Successfully Treated With CO(2) Laser and Imiquimod.
McGee JS, Suchter MF, Milgraum SS
Skinmed 2016;14(6):467-468. Epub 2016 Dec 1 PMID: 28031139
An evaluation of the efficacy of topical application of salicylic acid for the treatment of familial cylindromatosis.
Oosterkamp HM, Neering H, Nijman SM, Dirac AM, Mooi WJ, Bernards R, Brummelkamp TR
Br J Dermatol 2006 Jul;155(1):182-5. doi: 10.1111/j.1365-2133.2006.07224.x. PMID: 16792771

Prognosis

Identification of putative phenotype-modifying genetic factors associated with phenotypic diversity in Brooke-Spiegler syndrome.
Pap ÉM, Farkas K, Széll M, Németh G, Rajan N, Nagy N
Exp Dermatol 2020 Oct;29(10):1017-1020. Epub 2020 Sep 17 doi: 10.1111/exd.14161. PMID: 32744342
Clinical, genetic and experimental studies of the Brooke-Spiegler (CYLD) skin tumor syndrome.
Andersson MK, Kölby L, Nilsson JA, Stenman G
J Plast Surg Hand Surg 2019 Apr;53(2):71-75. Epub 2019 Jan 24 doi: 10.1080/2000656X.2018.1547736. PMID: 30676842
A clinicopathologic and molecular biologic study of patients presenting with few adnexal tumors (two to four) from the morphological spectrum of Brooke-Spiegler syndrome.
Kacerovska D, Vanecek T, Spagnolo DV, Bisceglia M, Zelger B, Michal M, Kazakov DV
Am J Dermatopathol 2013 Feb;35(1):19-24. doi: 10.1097/DAD.0b013e318255dd37. PMID: 22588548
CYLD regulates keratinocyte differentiation and skin cancer progression in humans.
Alameda JP, Fernández-Aceñero MJ, Moreno-Maldonado R, Navarro M, Quintana R, Page A, Ramírez A, Bravo A, Casanova ML
Cell Death Dis 2011 Sep 8;2(9):e208. doi: 10.1038/cddis.2011.82. PMID: 21900959Free PMC Article
Identification of the familial cylindromatosis tumour-suppressor gene.
Bignell GR, Warren W, Seal S, Takahashi M, Rapley E, Barfoot R, Green H, Brown C, Biggs PJ, Lakhani SR, Jones C, Hansen J, Blair E, Hofmann B, Siebert R, Turner G, Evans DG, Schrander-Stumpel C, Beemer FA, van Den Ouweland A, Halley D, Delpech B, Cleveland MG, Leigh I, Leisti J, Rasmussen S
Nat Genet 2000 Jun;25(2):160-5. doi: 10.1038/76006. PMID: 10835629

Clinical prediction guides

Clinical, genetic and experimental studies of the Brooke-Spiegler (CYLD) skin tumor syndrome.
Andersson MK, Kölby L, Nilsson JA, Stenman G
J Plast Surg Hand Surg 2019 Apr;53(2):71-75. Epub 2019 Jan 24 doi: 10.1080/2000656X.2018.1547736. PMID: 30676842
A clinicopathologic and molecular biologic study of patients presenting with few adnexal tumors (two to four) from the morphological spectrum of Brooke-Spiegler syndrome.
Kacerovska D, Vanecek T, Spagnolo DV, Bisceglia M, Zelger B, Michal M, Kazakov DV
Am J Dermatopathol 2013 Feb;35(1):19-24. doi: 10.1097/DAD.0b013e318255dd37. PMID: 22588548
Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.
Rajan N, Langtry JA, Ashworth A, Roberts C, Chapman P, Burn J, Trainer AH
Arch Dermatol 2009 Nov;145(11):1277-84. doi: 10.1001/archdermatol.2009.262. PMID: 19917957Free PMC Article
Identification of the familial cylindromatosis tumour-suppressor gene.
Bignell GR, Warren W, Seal S, Takahashi M, Rapley E, Barfoot R, Green H, Brown C, Biggs PJ, Lakhani SR, Jones C, Hansen J, Blair E, Hofmann B, Siebert R, Turner G, Evans DG, Schrander-Stumpel C, Beemer FA, van Den Ouweland A, Halley D, Delpech B, Cleveland MG, Leigh I, Leisti J, Rasmussen S
Nat Genet 2000 Jun;25(2):160-5. doi: 10.1038/76006. PMID: 10835629

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