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A Clinicopathologic and Molecular Biologic Study of Patients Presenting With Few Adnexal Tumors (Two to Four) From the Morphological Spectrum of Brooke–Spiegler Syndrome

Kacerovska, Denisa, MD, PhD*; Vanecek, Tomas, PhD*,†; Spagnolo, Dominic V., MBBS, FRCPA; Bisceglia, Michele§; Zelger, Bernhard, MD, MSc; Michal, Michal, MD*,†; Kazakov, Dmitry V., MD, PhD*,†

The American Journal of Dermatopathology: February 2013 - Volume 35 - Issue 1 - p 19–24
doi: 10.1097/DAD.0b013e318255dd37
Original Study

Abstract: We report 11 individuals, each presenting with few (2–4) adnexal neoplasms histologically confirmed as belonging to the spectrum of lesions typical for Brooke–Spiegler syndrome (BSS) and/or multiple familial trichoepitheliomas. These include spiradenoma, cylindroma, spiradenocylindroma, and trichoblastoma variants. Our objective was to clarify whether this is merely a sporadic, albeit unusual, occurrence of multiple neoplasms in these patients or whether they are related to BSS and its phenotypic variant, multiple familial trichoepithelioma. Six patients presented with 2 neoplasms, 4 had 3 lesions and the last had 4 lesions. In none was there any family history of similar lesions. The 28 neoplasms consisted of 7 spiradenomas, 6 cylindromas, 5 spiradenocylindromas, and 11 trichoblastomas (6 trichoepitheliomas and 5 with mixed patterns). In 1 patient only with 2 spiradenomas, both tumors harbored identical CYLD sequence alterations (c.1112C>A/S371X) in the CYLD gene and both showed loss of heterozygosity on chromosome 16q. The remaining cases yielded neither germ line nor somatic alterations in CYLD. It is concluded that the presentation with few (2–4) cylindromas, spiradenomas, spiradenocylindromas, and trichoepitheliomas is a sporadic occurrence, and that these patients do not have any relationship to BSS.

*Sikl's Department of Pathology, Charles University, Medical Faculty Hospital, Pilsen, Czech Republic

Bioptical Laboratory, Pilsen, Czech Republic

PathWest Laboratory Medicine WA, and School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, WA, Australia

§Department of Pathology, IRCCS-Ospedale "Casa Sollievo della Sofferenza", San Giovanni Rotondo, Italy

Department of Dermatology and Venereology, Innsbruck Medical University, Innsbruck, Austria.

Reprints: Dmitry V. Kazakov, MD, PhD, Sikl's Department of Pathology, Charles University Medical Faculty Hospital, Alej Svobody 80, 304 60, Pilsen, Czech Republic (e-mail:

Supported in part by the Internal Grant Agency of the Ministry of Health of the Czech Republic (NS 9734).

The authors declare no conflicts of interest.

© 2013 by Lippincott Williams & Wilkins.