A clinicopathologic and molecular biologic study of patients presenting with few adnexal tumors (two to four) from the morphological spectrum of Brooke-Spiegler syndrome

The American Journal of Dermatopathology
Denisa KacerovskaDmitry V Kazakov

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 s...Continue Reading

References

Apr 1, 1993·The American Journal of Dermatopathology·W WeyersW B Schill
Mar 21, 1998·The American Journal of Dermatopathology·L PuigJ M de Moragas
Jun 3, 2000·Nature Genetics·G R BignellS Rasmussen
Sep 5, 2001·Journal of Clinical Pathology·N LeonardS R Lakhani
Oct 3, 2002·The American Journal of Dermatopathology·Jennie ClarkeKlaus F Helm
Feb 1, 2008·Journal of Medical Genetics·S SaggarJ T Celebi
May 27, 2010·Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B·Radek SimaDmitry V Kazakov
Aug 17, 2010·The American Journal of Dermatopathology·Dmitry V KazakovMichal Michal

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Citations

Mar 8, 2016·International Journal of Dermatology·Krister J JonesCarrie A Cusack
Apr 16, 2013·Pediatric Dermatology·Jayson R MiedemaDaniel Zedek
Aug 26, 2016·Indian Dermatology Online Journal·Vikram K MahajanSaurabh Sharma

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