Multiple familial trichoepithelioma: A new CYLD gene mutation;Trichoépithéliomes multiples familiaux: nouvelle mutation du gène CYLD

Annales de Dermatologie et de Venereologie

Volumn 140, Issue 4, 2013, Pages 274-277

  Duparc, A ^a   Lasek Duriez, A ^a   Wiart, T ^a   Duban Bedu, B ^a   Gosset, P ^a   Modiano, P ^a  

^a UNIVERSITÉ CATHOLIQUE DE LILLE   (France)

Author keywords

CYLD; Familial; Genodermatosis; Mutation; Trichoepithelioma

Indexed keywords

ARTICLE; CYLD GENE; FAMILIAL DISEASE; GENE MUTATION; HUMAN; MULTIPLE FAMILIAL TRICHOEPITHELIOMA; TRICHOEPITHELIOMA; TUMOR SUPPRESSOR GENE;

EID: 84876543701     PISSN: 01519638     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.annder.2013.01.441     Document Type: Article

References (19)

1. Clarke J, Ioffreda M, Helm KF. Multiple familial trichoepitheliomas: a folliculosebaceous-apocrine genodermatosis. Am J Dermatopathol 2002;24:402-5.
2. Bignell GR, Warren W, Seal S, Takahashi M, Rapley E, Barfoot R, et al. Identification of the familial cylindromatosis tumoursuppressor gene. Nat Genet 2000;2:160-5.
3. Hu G, Onder M, Gill M, Aksakal B, Oztas M, Gürer MA, et al. A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. J Invest Dermatol 2003;121:732-4.
4. Zhang XJ, Liang YH, He PP, Yang S, Wang HY, Chen JJ, et al. Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. J Invest Dermatol 2004;122:658-64.
5. Blake PW, Toro Jr. Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. Hum Mutat 2009;30:1025-36.
6. Tsalamlal A, Bourillon C, Kannengiesser A, Riffault C, Moreno F, Aubin, et al. Étude clinique et moléculaire de patients atteints de cylindromatose. Ann Dermatol Venereol 2011;138:A78.
7. Saggar S, Chernoff KA, Lodha S, Horev L, Kohl S, Honjo RS, et al. CYLD mutations in familial skin appendage tumours. J Med Genet 2008;45:298-302.
8. 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;128:587-93.
9. Bowen S, Gill M, Lee DA, Fisher G, Geronemus RG, Vazquez ME, et al. Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. J Invest Dermatol 2005;124:919-20.
10. Brummelkamp TR, Nijman SM, Dirac AM, Bernards R. Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-kappaB. Nature 2003;424:797-801.
11. Bonnet M, Courtois G. CYLD deubiquitinase as a recurrent target in oncogenic processes. Med Sci (Paris) 2011;27:626-31.
12. Pincus LB, McCalmont TH, Neuhaus IM, Kasper R, Oh DH. Basal cell carcinomas arising within multiple trichoepitheliomas. J Cutan Pathol 2008;35:59-64.
13. Misago N, Narisawa Y. Basal cell carcinoma in association with multiple trichoepitheliomas. Dermatology 2001;202:261-5.
14. 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;88:43-6.
15. Rallan D, Harland CC. Brooke-Spiegler syndrome: treatment with laser ablation. Clin Exp Dermatol 2005;30:355-7.
16. LoPiccolo MC, Sage RJ, Kouba DJ. Comparing ablative fractionated resurfacing, photodynamic therapy, and topical imiquimod in the treatment of trichoblastomas of Brooke-Spiegler Syndrome: a case study. Dermatol Surg 2011;37: 1047-50.
17. Fisher GH, Geronemus RG. Treatment of multiple familial trichoepitheliomas with a combination of aspirin and a neutralizing antibody to tumor necrosis factor alpha: a case report and hypothesis of mechanism. Arch Dermatol 2006;142: 782-3.
18. Urquhart JL, Weston WL. Treatment of multiple trichoepitheliomas with topical imiquimod and tretinoin. Pediatr Dermatol 2005;22:67-70.
19. Alessi SS, Sanches JA, Oliveira WR, Messina MC, Pimentel ER, Festa Neto C. Treatment of cutaneous tumors with topical 5% imiquimod cream. Clinics (Sao Paulo) 2009;64:961-6.