Clinical, Histological and Dermoscopic Findings in Familial Cylindromatosis: a Report of Two Cases

1. Calonje E. Tumours of the skin appendages. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook’s textbook of dermatology. 6^th ed. Oxford: Blackwell Publishing; 2010. p. 53.1-53.44.10.1002/9781444317633.ch53Search in Google Scholar

2. Chen M, Liu H, Fu X, Yu Y, Yu G, Tian H, et al. Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma and eccrine spiradenoma. Int J Dermatol 2013;52(12):1602-4.10.1111/j.1365-4632.2011.05329.xSearch in Google Scholar

3. Hu G, Onder M, Gill M, Aksakal B, Oztas M, Gurer MA, et al. A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. J Invest Dermatol 2003;121:732–4.10.1046/j.1523-1747.2003.12514.xSearch in Google Scholar

4. 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;124:919–20.10.1111/j.0022-202X.2005.23688.xSearch in Google Scholar

5. Dubois A, Wilson V, Bourn D, Rajan N. Genetic testing for Brooke-Spiegler syndrome, familial cylindromatosis and multiple familial trichoepitheliomas. PLoS Curr 2015;9(7).10.1371/currents.eogt.45c4e63dd43d62e12228cc5264d6a0dbSearch in Google Scholar

6. Rajan N, Langtry JA, Ashworth A, Roberts C, Chapman P, Burn J, et al. Tumor mapping in 2 large multigenerational families with CYLD mutations: Implications for disease management and tumor induction. Arch Dermatol 2009;145(11):1277-84.10.1001/archdermatol.2009.262Search in Google Scholar

7. Guardoli D, Argenziano G, Ponti G, Nasti S, Zalaudek I, Moscarella E, et al. A novel CYLD germline mutation in Brooke-Spiegler syndrome. J Eur Acad Dermatol Venereol 2015;29(3):457-62.10.1111/jdv.12578Search in Google Scholar

8. Shiver M, Hughes M, Naylor M, McLarney B, Stolle C, Shalin S, Gao L. A novel CYLD gene mutation and multiple basal cell carcinomas in a patient with Brooke-Spiegler syndrome. Clin Exp Dermatol 2015 May 15. doi: 10.1111/ced.12669.10.1111/ced.12669Search in Google Scholar

9. Brummelkamp TR, Nijman SM, Dirac AM, Bernards R. Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-kappaB. Nature 2003;424(6950):797–801.10.1038/nature01811Search in Google Scholar

10. Borik L, Heller P, Shrivastava M, Kazlouskaya V. Malignant cylindroma in a patient with Brooke-Spiegler syndrome. Dermatol Pract Concept 2015;5(2):61-5.10.5826/dpc.0502a09Search in Google Scholar

11. Clarke J, Ioffreda M, Helm KF. Multiple familial trichoepitheliomas: a folliculosebaceous-apocrine genodermatosis. Am J Dermatopathol 2002;24:402–5.10.1097/00000372-200210000-00005Search in Google Scholar

12. Rajan N, Elliott R, Clewes O, Mackay A, Reis-Filho JS, Burn J, et al. Dysregulated TRK signalling is a therapeutic target in CYLD defective tumours. Oncogene 2011;30(41):4243-60.10.1038/onc.2011.133Search in Google Scholar

13. Oosterkamp HM, Neering H, Nijman SM, Dirac AM, Mooi WJ, Bernards R, et al. An evaluation of the efficacy of topical application of salicylic acid for the treatment of familial cylindromatosis. Br J Dermatol 2006;155:182-5.10.1111/j.1365-2133.2006.07224.xSearch in Google Scholar

14. Gerretsen AL, van der Putte SC, Deenstra W, van Vloten WA. Cutaneous cylindroma with malignant transformation. Cancer 1993;72(5):1618-23.10.1002/1097-0142(19930901)72:5<1618::AID-CNCR2820720521>3.0.CO;2-5Search in Google Scholar

15. Malzone MG, Campanile AC, Losito NS, Longo F, Perri F, Caponigro F, et al. Brooke-Spiegler syndrome presenting multiple concurrent cutaneous and parotid gland neoplasms: cytologic findings on fine-needle sample and description of a novel mutation of the CYLD gene. Diagn Cytopathol 2015;43(8):654-8.10.1002/dc.23275Search in Google Scholar