2009
DOI: 10.1002/humu.21024
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Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling

Abstract: Germline mutations in the cylindromatosis (CYLD) gene have been described in families with cylindromas, trichoepitheliomas, and/or spiradenomas. Brooke-Spiegler syndrome (BSS) is the autosomal dominant predisposition to skin appendageal neoplasms including cylindromas, trichoepitheliomas, and/or spiradenomas. We review the clinical features, molecular genetics, and the animal models of BSS. To date, a total of 51 CYLD mutations have been reported, occurring in exons 9–20, in 73 families with diverse ethnic and… Show more

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Cited by 94 publications
(80 citation statements)
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References 121 publications
(194 reference statements)
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“…Desmoplastic changes have been reported to occur following inflammation [7], other types of tissue injury and neoplasm [6]. Inflammation is commonly associated with the multiple familial variant of trichoepithelioma, particularly the ones caused by CYLD gene mutations [8,9].…”
Section: Discussionmentioning
confidence: 99%
“…Desmoplastic changes have been reported to occur following inflammation [7], other types of tissue injury and neoplasm [6]. Inflammation is commonly associated with the multiple familial variant of trichoepithelioma, particularly the ones caused by CYLD gene mutations [8,9].…”
Section: Discussionmentioning
confidence: 99%
“…All rights reserved Mutations in the CYLD gene are causative for the development of familial cylindromatosis, multiple familial trichoepithelioma and Brooke-Spiegler syndrome, conditions characterized by growth of benign skin tumors occurring mainly in the head and neck areas [90][91][92]. Mice deficient for CYLD are viable and do not spontaneously develop cancer, but are more prone to development of chemically-induced tumors [93] and to colitis-associated inflammation and tumorigenesis [94].…”
Section: Author Manuscriptmentioning
confidence: 99%
“…the folliculo-sebaceous-apocrine germ). They are small skin-colored papules or nodules, with nests of basaloid cells forming cysts containing horn cells (with keratin) (Lee et al, 2005;Kim et al, 2007;Blake and Toro, 2009). …”
Section: Phenotype and Clinicsmentioning
confidence: 99%
“…Spiradenomas may transform into spiradenocarcinomas or show sarcomatous differentiation. An increased risk of developing tumors of the salivary glands has also been described (basalcell adenomas and adenocarcinomas of the parotid glands and minor salivary glands) (Lee et al, 2005;Kim et al, 2007;Blake and Toro, 2009). …”
Section: Neoplastic Riskmentioning
confidence: 99%