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Article

Brooke-Spiegler Syndrome and Phenotypic Variants: An Update.

Head and neck pathology - 1 Jun 2016

Kazakov Dmitry V

Abstract excerpt

Brooke-Spiegler syndrome (BSS) is an inherited autosomal dominant disease characterized by the development of multiple adnexal cutaneous neoplasms most commonly spiradenoma, cylindroma, spiradenocylindroma, and trichoepithelioma. Multiple familial trichoepithelioma (MFT) is a phenotypic variant of the disease characterized by the development of numerous trichoepitheliomas (cribriform trichoblastoma) only....

Topics

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Germ-Line Mutation
Deubiquitinating Enzyme CYLD
CYLD gene
Genotype
Neoplastic Syndromes, Hereditary
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Tumor Suppressor Proteins

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Identifiers

PMID: 26971504
DOI: 10.1007/s12105-016-0705-x
PMCID: PMC4838966

Genes

CYLD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Brooke-Spiegler Syndrome and Phenotypic Variants: An Update.PMID 26971504Read ↗

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.Semantic proximity Read ↗

Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation.Semantic proximity Read ↗

Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation.Semantic proximity Read ↗

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Brooke-Spiegler Syndrome: Report of 10 Patients From 8 Families With Novel Germline MutationsSemantic proximity Read ↗

Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene.Semantic proximity Read ↗

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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.Semantic proximity Read ↗

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