A Novel Missense Mutation in CYLD in a Family with Brooke-Spiegler Syndrome

Journal of Investigative Dermatology

Volumn 121, Issue 4, 2003, Pages 732-734

  Hu, Guofang ^a   Önder, Meltem ^b   Gill, Melissa ^a   Aksakal, Burhan ^b   Öztas, Murat ^b   Gürer, M Ali ^b   Çelebi, Jülide Tok ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b GAZI UNIVERSITY   (Turkey)

Author keywords

Cylindroma; Familial cylindromatosis; Genodermatosis; Trichoepithelioma; Turban tumor syndrome

Indexed keywords

ARTICLE; BROOKE SYNDROME; CHROMOSOME 12; CHROMOSOME 13; CONTROLLED STUDY; CYLINDROMA; GENE IDENTIFICATION; GENE MAPPING; GENETIC HETEROGENEITY; HUMAN; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SKIN APPENDAGE; TRICHOEPITHELIOMA;

EID: 0141956460     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2003.12514.x     Document Type: Article

References (16)

1. Antonescu CR, Terzakis JA: Multiple malignant cylindromas of skin in association with basal cell adenocarcinoma with adenoid cystic features of minor salivary gland. J Cutan Pathol 24:449-453, 1997
2. Biggs PJ, Wooster R, Ford D, et al: Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: Evidence for its role as a tumour suppressor gene. Nat Genet 11:441-443, 1995
3. Bignell GR, Warren W, Seal S, et al: Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet 25:160-165, 2000
4. Brooke H: Epithelioma adenoides cysticum. Br J Dermatol 4:269-287, 1892
5. Burrows NP, Jones RR, Smith NP: The clinicopathological features of familial cylindromas and trichoepitheliomas (Brooke-Spiegler syndrome): A report of two families. Clin Exp Dermatol 17:332-336, 1992
6. Durani BK, Kurzen H, Jaeckel A, et al: Malignant transformation of multiple dermal cylindromas. Br J Dermatol 145:653-656, 2001
7. Gerretsen AL, Beemer FA, Deenstra W, et al: Familial cutaneous cylindromas. Investigations in five generations of a family. J Am Acad Dermatol 33:199-206, 1995
8. Gerretsen AL, van der Putte SC, Deenstra W, et al: Cutaneous cylindroma with malignant transformation. Cancer 72:1618-1623, 1993
9. Gutierrez PP, Eggermann T, Holler D, et al: Phenotype diversity in familial cylindromatosis: A frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages. J Invest Dermatol 119:527-531, 2002
10. Harada H, Hashimoto K, Ko MS: The gene for multiple familial trichoepithelioma maps to chromosome 9p21. J Invest Dermatol 107:41-43, 1996
11. Jungehulsing M, Wagner M, Damm M: Turban tumour with involvement of the parotid gland. J Laryngol Otol 113:779-783, 1999
12. Leonard N, Chaggar R, Jones C, et al: Loss of heterozygosity at cylindromatosis gene locus, CYLD, in sporadic skin adnexal tumours. J Clin Pathol 54:689-692, 2001
13. Matt D, Xin H, Vortmeyer AO, et al: Sporadic trichoepithelioma demonstrates deletions at 9q22.3. Arch Dermatol 136:657-660, 2000
14. Pizinger K, Michal M: Malignant cylindroma in Brooke-Spiegler syndrome. Dermatology 201:255-257, 2000
15. Spiegler E: Ueber endotheliome der haut. Arch Derm Syph 50:163-176, 1899
16. Weyers W, Nilles M, Eckert F, et al: Spiradenomas in Brooke-Spiegler syndrome. Am J Dermatopathol 15:156-161, 1993