- Author: Noah S Scheinfeld, JD, MD, FAAD; Chief Editor: Dirk M Elston, MD more...
Further Outpatient Care
Follow-up care of patients with multiple cylindromas is recommended because of the tendency for new lesions to develop. Follow-up care is also recommended because of the risk of malignant degeneration.
A cylindroma occasionally erodes through the skull, causing hemorrhage and meningitis.
Anal and rectal spiradenocylindroma-like basaloid carcinomas have been reported with CYLD gene mutations defined.
Scattered reports exist of malignant transformation of isolated cylindromas, so this must be a consideration for regular follow-up for patients with cylindromas. This includes transformation into basal cell carcinoma.
Most cylindromas are benign but some are malignant and potentially lethal27; at least 14 reports have described malignant transformation. The prognosis is not good with malignancy because visceral metastasis frequently follows.
Multiple cylindromas can cover the entire scalp and cause the disfiguring turban tumor appearance, which necessitates extensive reconstructive surgery.
Advise genetic counseling for the multiple variant of cylindromas.
Bignell GR, Warren W, Seal S, et al. Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet. 2000 Jun. 25(2):160-5. [Medline].
Bowen S, Gill M, Lee DA, 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 May. 124(5):919-20. [Medline].
Zhang G, Huang Y, Yan K, et al. Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene. Exp Dermatol. 2006 Dec. 15(12):966-70. [Medline].
Stegmeier F, Sowa ME, Nalepa G, Gygi SP, Harper JW, Elledge SJ. The tumor suppressor CYLD regulates entry into mitosis. Proc Natl Acad Sci U S A. 2007 May 22. 104(21):8869-74. [Medline].
Massoumi R, Paus R. Cylindromatosis and the CYLD gene: new lessons on the molecular principles of epithelial growth control. Bioessays. 2007 Dec. 29(12):1203-14. [Medline].
Fehr A, Kovács A, Löning T, Frierson H Jr, van den Oord J, Stenman G. The MYB-NFIB gene fusion-a novel genetic link between adenoid cystic carcinoma and dermal cylindroma. J Pathol. 2011 Jul. 224(3):322-7. [Medline].
Trufant J, Robinson M, Patel R. Brooke-Spiegler syndrome. Dermatol Online J. 2012 Dec 15. 18(12):16. [Medline].
Grossmann P, Vanecek T, Steiner P, et al. Novel and Recurrent Germline and Somatic Mutations in a Cohort of 67 Patients From 48 Families With Brooke-Spiegler Syndrome Including the Phenotypic Variant of Multiple Familial Trichoepitheliomas and Correlation With the Histopathologic Findings in 379 Biopsy Specimens. Am J Dermatopathol. 2013 Feb. 35(1):34-44. [Medline].
Hayashi M, Jono H, Shinriki S, Nakamura T, Guo J, Sueta A, et al. Clinical significance of CYLD downregulation in breast cancer. Breast Cancer Res Treat. 2014 Jan 8. [Medline].
Sellheyer K. Spiradenoma and cylindroma originate from the hair follicle bulge and not from the eccrine sweat gland: an immunohistochemical study with CD200 and other stem cell markers. J Cutan Pathol. 2014 Oct 29. [Medline].
Pinho AC, Gouveia MJ, Gameiro AR, Cardoso JC, Gonçalo MM. Brooke-Spiegler Syndrome - an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation. J Dermatol Case Rep. 2015 Sep 30. 9 (3):67-70. [Medline].
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 Dec. 52:1602-4.
Fukuda M, Hiroi M, Suzuki S, Ohmori Y, Sakashita H. Loss of CYLD might be associated with development of salivary gland tumors. Oncol Rep. 2008 Jun. 19(6):1421-7. [Medline].
Parren LJ, Bauer B, Hamm H, Frank J. Brooke-Spiegler syndrome complicated by unilateral hearing loss. Int J Dermatol. 2008 Nov. 47 Suppl 1:56-9. [Medline].
Carlson RM, Haddad L, Pui JC. Brooke-Spiegler syndrome with associated pegged teeth. Cutis. 2008 Nov. 82(5):345-9. [Medline].
Aggarwal R, Gupta O, Yadav YK, Dogra S. Cylindroma of the breast: a rare case report. Int J Trichology. 5(2). 2013 Apr:83-5. [Medline].
Singh DD, Naujoks C, Depprich R, Schulte KW, Jankowiak F, Kübler NR, et al. Cylindroma of head and neck: Review of the literature and report of two rare cases. J Craniomaxillofac Surg. 2012 Dec 20. [Medline].
Rajan N, Elliott R, Clewes O, et al. Dysregulated TRK signalling is a therapeutic target in CYLD defective tumours. Oncogene. 2011 May 9. [Medline].
Vranic S, Bender R, Palazzo J, Gatalica Z. A review of adenoid cystic carcinoma of the breast with emphasis on its molecular and genetic characteristics. Hum Pathol. 2012 Apr 18. [Medline].
Cohen YK, Elpern DJ. Dermatoscopic pattern of a cylindroma. Dermatol Pract Concept. 2014 Jan 31. 4(1):67-8. [Medline].
Ishihara M, Mehregan DR, Hashimoto K, et al. Staining of eccrine and apocrine neoplasms and metastatic adenocarcinoma with IKH-4, a monoclonal antibody specific for the eccrine gland. J Cutan Pathol. 1998 Feb. 25(2):100-5. [Medline].
Fusco N, Colombo PE, Martelotto LG, De Filippo MR, Piscuoglio S, Ng CK, et al. Resolving quandaries: basaloid adenoid cystic carcinoma or breast cylindroma? The role of massively parallel sequencing. Histopathology. 2016 Jan. 68 (2):262-271. [Medline].
Rallan D, Harland CC. Brooke-Spiegler syndrome: treatment with laser ablation. Clin Exp Dermatol. 2005 Jul. 30(4):355-7. [Medline].
Retamar RA, Stengel F, Saadi ME, et al. Brooke-Spiegler syndrome - report of four families: treatment with CO2 laser. Int J Dermatol. 2007 Jun. 46(6):583-6. [Medline].
Kacerovska D, Szepe P, Vanecek T, et al. Spiradenocylindroma-like basaloid carcinoma of the anus and rectum: case report, including HPV studies and analysis of the CYLD gene mutations. Am J Dermatopathol. 2008 Oct. 30(5):472-6. [Medline].
Tripathy SM, Somu TN, Sundaram M, Sadhiya S. Malignant Cylindroma of Post Aural Region Involving the Temporal Bone. J Clin Diagn Res. 2015 Jul. 9 (7):MD01-2. [Medline].