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CYLD Cutaneous Syndrome.
Dubois A, Rajan N. Dubois A, et al. 2020 Apr 16. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2020 Apr 16. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 32298062 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: CYLD cutaneous syndrome (CCS) typically manifests in the second or third decade with the appearance of multiple skin tumors including cylindromas, spiradenomas, trichoepitheliomas, and rarely, membranous basal cell adenoma of the sal …
CLINICAL CHARACTERISTICS: CYLD cutaneous syndrome (CCS) typically manifests in the second or third decade with the appe …
Genetic Testing in CYLD Cutaneous Syndrome: An Update.
Nagy N, Dubois A, Szell M, Rajan N. Nagy N, et al. Appl Clin Genet. 2021 Oct 29;14:427-444. doi: 10.2147/TACG.S288274. eCollection 2021. Appl Clin Genet. 2021. PMID: 34744449 Free PMC article. Review.
CYLD cutaneous syndrome (CCS) is an inclusive label for the inherited skin adnexal tumour syndromes Brooke-Spiegler Syndrome (BSS-OMIM 605041), familial cylindromatosis (FC - OMIM 132700) and multiple familial trichoepitheliomas (MFT-OMIM 601606
CYLD cutaneous syndrome (CCS) is an inclusive label for the inherited skin adnexal tumour syndromes Brooke-Spieg
Molecular pathology of skin adnexal tumours.
Plotzke JM, Adams DJ, Harms PW. Plotzke JM, et al. Histopathology. 2022 Jan;80(1):166-183. doi: 10.1111/his.14441. Histopathology. 2022. PMID: 34197659 Review.
AIMS: Tumours of the cutaneous adnexa arise from, or differentiate towards, structures in normal skin such as hair follicles, sweat ducts/glands, sebaceous glands or a combination of these elements. ...Adnexal tumours often present as solitary sporadic lesions, but can her …
AIMS: Tumours of the cutaneous adnexa arise from, or differentiate towards, structures in normal skin such as hair follicles, sweat d …
A large family with CYLD cutaneous syndrome: medical genetics at the community level.
Arruda AP, Cardoso-Dos-Santos AC, Mariath LM, Feira MF, Kowalski TW, Bezerra KRF, da Silva LACT, Ribeiro EM, Schuler-Faccini L. Arruda AP, et al. J Community Genet. 2020 Jul;11(3):279-284. doi: 10.1007/s12687-019-00447-2. Epub 2019 Dec 3. J Community Genet. 2020. PMID: 31792733 Free PMC article.
Germline mutations in the cylindromatosis gene (CYLD) are associated with a rare autosomal dominant disease known as CYLD cutaneous syndrome (CCS). ...A high frequency of basal cell carcinomas among affected people was found. The mutation c.2806C>T, …
Germline mutations in the cylindromatosis gene (CYLD) are associated with a rare autosomal dominant disease known as CYLD c
Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome.
Davies HR, Hodgson K, Schwalbe E, Coxhead J, Sinclair N, Zou X, Cockell S, Husain A, Nik-Zainal S, Rajan N. Davies HR, et al. Nat Commun. 2019 Oct 17;10(1):4717. doi: 10.1038/s41467-019-12746-w. Nat Commun. 2019. PMID: 31624251 Free PMC article.
Patients with CYLD cutaneous syndrome (CCS; syn. Brooke-Spiegler syndrome) carry germline mutations in the tumor suppressor CYLD and develop multiple skin tumors with diverse histophenotypes. ...Phylogenetic and mutational signature analyses con …
Patients with CYLD cutaneous syndrome (CCS; syn. Brooke-Spiegler syndrome) carry germline mutations in the tumor …
Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission.
Arefi M, Wilson V, Muthiah S, Zwolinski S, Bajwa D, Brennan P, Blasdale K, Bourn D, Burn J, Santibanez-Koref M, Rajan N. Arefi M, et al. J Am Acad Dermatol. 2019 Dec;81(6):1300-1307. doi: 10.1016/j.jaad.2019.05.021. Epub 2019 May 11. J Am Acad Dermatol. 2019. PMID: 31085270 Free PMC article.
METHODS: A study of 6 cases from a series of 55 patients who met criteria for diagnostic gene testing for pathogenic CYLD variants over a 5-year period (2012-2017) was performed. A novel genetic assay was used to study DNA from peripheral blood leukocytes and, where possib …
METHODS: A study of 6 cases from a series of 55 patients who met criteria for diagnostic gene testing for pathogenic CYLD variants ov …
A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family.
Zhu R, Xu J, Shen J, Li W, Tan F, Li C, Wei Z, Liu Y, Bai Y. Zhu R, et al. Mol Genet Genomic Med. 2020 Oct;8(10):e1441. doi: 10.1002/mgg3.1441. Epub 2020 Aug 11. Mol Genet Genomic Med. 2020. PMID: 32783365 Free PMC article.
BACKGROUND: CYLD cutaneous syndrome (CCS; syn. Brooke-Spiegler syndrome) is a rare autosomal dominant hereditary disease characterized by multiple adnexal skin tumors including cylindromas, spiradenomas, and trichoepitheliomas. More than 100 germline m …
BACKGROUND: CYLD cutaneous syndrome (CCS; syn. Brooke-Spiegler syndrome) is a rare autosomal dominant hereditary …
39 results