Malignant eccrine spiradenocylindroma and parotid gland involvement in Brooke-Spiegler syndrome


Published: 26 January 2022
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Authors

  • Giulia Merlo Dermatology Unit, SS. Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy. https://orcid.org/0000-0003-0767-4684
  • Marianna Pesce Department of Plastic and Reconstructive Surgery, SS. Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy.
  • Tiziana Borra Department of Pathology, SS. Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy.
  • Ileana Orejuela Department of Plastic and Reconstructive Surgery, SS. Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy.
  • Francesca Pasquali Vulnology Unit, Local Health Department of Alessandria, Italy.
  • Renzo Panizza Department of Plastic and Reconstructive Surgery, SS. Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy.
  • Marco Ghiglione Department of Plastic and Reconstructive Surgery, SS. Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy.
  • Federica Grosso Translational Medicine, Integrated Activities Research and Innovation Department (DAIRI), SS. Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy.

Brooke-Spiegler syndrome is a rare disorder, characterized by the development of skin adnexal tumors, including cylindromas, trichoepitheliomas, spiradenomas. Although these neoplasms are benign in most patients, a malignant transformation can rarely occur. Furthermore, an occasional association between cutaneous adnexal tumors and basal cell adenoma as well as adenocarcinoma of the parotid gland has been rarely described, with approximately 20 cases reported. We report a case of Brooke-Spiegler syndrome presenting with a malignant eccrine spiradenocylindroma, in a patient with previous history of parotid basal cell tumor.


Kazakov DV. Brooke-Spiegler Syndrome and Phenotypic Variants: An Update. Review Head Neck Pathol 2016;10:125-30. DOI: https://doi.org/10.1007/s12105-016-0705-x

Kazakov DV, Zelger B, Rutten A, et al. Morphologic diversity of malignant neoplasms arising in preexisting spiradenoma, cylindroma and spiradenocylindroma based on the study of 24 cases, sporadic or occurring in the setting of Brooke-Spiegler syndrome. Am J Surg Pathol 2009;33:705-19. DOI: https://doi.org/10.1097/PAS.0b013e3181966762

Gerretsen AL, van der Putte SC, Deenstra W, et al. Cutaneous cylindroma with malignant transformation. Cancer 1993;72:1618-23. DOI: https://doi.org/10.1002/1097-0142(19930901)72:5<1618::AID-CNCR2820720521>3.0.CO;2-5

Kuklani RM, Glavin FL, Bhattacharyya I. Malignant cylindroma of the scalp arising in a setting of multiple cylindromatosis: a case report. Head Neck Pathol 2009;3:315-9. DOI: https://doi.org/10.1007/s12105-009-0138-x

Pichler M, Thuile T, Kluge R, et al. Metastatic cylindrocarcinoma in Brooke-Spiegler Syndrome - Report of a case and review of the literature. J Dtsch Dermatol Ges 2021;19:125-8. DOI: https://doi.org/10.1111/ddg.14227

Malzone MG, Campanile AC, Losito NS, 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;43:654-8. DOI: https://doi.org/10.1002/dc.23275

Vasenina V, Cibull T, Stadlan N. Brooke-Spiegler Syndrome With Cervical Spine Lesion. Cureus 2020;12:e10982. DOI: https://doi.org/10.7759/cureus.10982

Kalina P, El-Azhary R. Brooke-spiegler syndrome with multiple scalp cylindromas and bilateral parotid gland adenomas. Case Rep Radiol 2012;2012:249583. DOI: https://doi.org/10.1155/2012/249583

Scott AR, Faquin WC, Deschler DG. Parotid mass in a woman with multiple cutaneous cylindromas. Head Neck 2010;32:684-7. DOI: https://doi.org/10.1002/hed.21133

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;35:34-44. DOI: https://doi.org/10.1097/DAD.0b013e31824e7658

Blake PW, Toro JR. Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. Review Hum Mutat 2009;30:1025-36. DOI: https://doi.org/10.1002/humu.21024

Denadai R, Stelini RF, Roberto WM, et al. Brooke-Spiegler syndrome clinically misdiagnosed as neurofibromatosis type 1. J Craniofac Surg 2015;26:323-5. DOI: https://doi.org/10.1097/SCS.0000000000001227

Pizinger K, Michal M. Malignant cylindroma in Brooke-Spiegler syndrome. Dermatology 2000;201:255-7. DOI: https://doi.org/10.1159/000018499

Durani BK, Kurzen H, Jaeckel A, et al. Malignant transformation of multiple dermal cylindromas. Br J Dermatol 2001;145:653-6. DOI: https://doi.org/10.1046/j.1365-2133.2001.04460.x

Köstler E, J Schönlebe, T Mentzel, et al. Psoriasis and Brooke-Spiegler syndrome with multiple malignancies. J Eur Acad Dermatol Venereol 2005;19:380-1. DOI: https://doi.org/10.1111/j.1468-3083.2005.01037.x

Merlo, G. ., Pesce, M. ., Borra, T. ., Orejuela, I. ., Pasquali, F. ., Panizza, R. ., Ghiglione, M. ., & Grosso, F. . (2022). Malignant eccrine spiradenocylindroma and parotid gland involvement in Brooke-Spiegler syndrome. Dermatology Reports, 14(3). https://doi.org/10.4081/dr.2022.9418

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