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

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

Dermatology. 2016;232(1):30-7

Authors: Tantcheva-Poór I, Vanecek T, Lurati MC, Rychly B, Kempf W, Michal M, Kazakov DV

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.

PMID: 26329847 [PubMed - indexed for MEDLINE]

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