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

Dermatology : International Journal for Clinical and Investigative Dermatology
Iliana Tantcheva-PoórDmitry V Kazakov

Abstract

Brooke-Spiegler syndrome is a rare autosomal-dominant genetic disorder characterized by multiple adnexal tumors, including cylindromas, spiradenomas, spiradenocylindromas and trichoepitheliomas. It is caused by germline CYLD mutations commonly leading to a premature stop codon. We here report on 3 novel CYLD mutations in 3 unrelated BSS patients, including the classic phenotype, multiple familial trichoepitheliomas phenotype and malignant transformation. These included c.1821_1826+1delinsCT/L607Ffs*9, c.2666A>T/p.D889V and c.2712delT/p.905Kfs*8. By extending the spectrum of CYLD mutations, better understanding of the molecular mechanisms of BSS can be gained, which might later assist in finding new treatment options.

Citations

Mar 15, 2016·Head and Neck Pathology·Dmitry V Kazakov
Mar 15, 2018·Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG·Jorge Frank
Sep 8, 2016·Cancers of the Head & Neck·Krista Roberta VerhoeftVivian Wai Yan Lui
Oct 22, 2016·Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG·Iliana Tantcheva-PoórCristina Has
Jul 6, 2018·Archives of Dermatological Research·Lizelotte J M T ParrenJorge Frank
Oct 22, 2016·Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG·Iliana Tantcheva-PoórCristina Has

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