New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome;Entdeckung einer neuen Mutation im CYLD-Gen bei einer Familie mit Brooke-Spiegler-Syndrom

JDDG - Journal of the German Society of Dermatology

Volumn 8, Issue 2, 2010, Pages 99-101

  Scholz, Ina M ^a   Nümann, Astrid ^a   Froster, Ursula G ^b   Helmbold, Peter ^a   Enk, Alexander H ^a   Näher, Helmut ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY OF LEIPZIG   (Germany)

Author keywords

Brooke Spiegler syndrome; CYLD gene; Cylindromas; Spiradenomas; Trichoepitheliomas

Indexed keywords

ARTICLE; BROOKE SPIELGER SYNDROME; CHROMOSOME 16Q; CLINICAL FEATURE; CYLD GENE; DISEASE SEVERITY; EXON; FRAMESHIFT MUTATION; GENE; GENETIC DISORDER; HUMAN; MOLECULAR GENETICS; PATIENT MONITORING; PHENOTYPE; SKIN TUMOR;

ADENOMA, SWEAT GLAND; ADOLESCENT; ADULT; BIOPSY; CARCINOMA, ADENOID CYSTIC; CARCINOMA, BASAL CELL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 16; DNA MUTATIONAL ANALYSIS; EXONS; FACIAL NEOPLASMS; FEMALE; FRAMESHIFT MUTATION; GENES, DOMINANT; HUMANS; MALE; MIDDLE AGED; NEOPLASMS, MULTIPLE PRIMARY; NOSE NEOPLASMS; PHENOTYPE; SCALP; SKIN; SKIN NEOPLASMS; SYNDROME; TUMOR SUPPRESSOR PROTEINS;

EID: 76149098929     PISSN: 16100379     EISSN: 16100387     Source Type: Journal    
DOI: 10.1111/j.1610-0387.2009.07156.x     Document Type: Article

References (9)

1. Lee DA, Grossman ME, Schneiderman P, Celebi JT. Genetics of skin appendage neoplasms and related syndromes. J Med Genet 2005 42 : 811 819.
2. Massoumi R, Paus R. Cylindromatosis and the CYLD gene: new lessons on the molecular principles of epithelial growth control. BioEssays 2007 29 : 1203 1214.
3. Gerretsen AL, Beemer FA, Deenstra W, Hennekam FA, van Vloten WA. Familial cutaneous cylindromas: Investigations in five generations of a family. J Am Acad Dermatol 1995 33 : 199 206.
4. Poblete Gutiérrez P, Eggermann T, Höller D, Jugert FK, Beermann T, Grussendorf-Conen EI, Zerres K, Merk HF, Frank J. Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages. J Invest Dermatol 2002 119 : 527 531.
5. Bignell GR, Warren W, Seal S. Identification of the familial cylindromatosis tumour suppressor gene. Nat Genet 2000 25 : 160 165.
6. Brummelkamp TR, Nijman SM, Dirac AM, Bernards R. Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-kappaB. Nature 2003 424 : 738 739.
7. 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 : 587 593.
8. Rallan D, Harland CC. Brooke-Spiegler sydrome: treatment with laser ablation. Clin Exp Dermatol 2005 30 : 355 357.
9. Oosterkamp HM, Neering H, Nijman SMB, Dirac AMG, Mooi WJ, Bernards R, Brumelkamp TR. An evaluation of the efficacy of topical application of salicylic acid for the treatment of familial cylindromatosis. Br J Dermatol 2006 155 : 182 185.