Report of three novel germline CYLD mutations in unrelated patients with Brooke-Spiegler syndrome, including classic phenotype, multiple familial trichoepitheliomas and malignant transformation
Copyright policy )Report of three novel germline CYLD mutations in unrelated patients with Brooke-Spiegler syndrome, including classic phenotype, multiple familial trichoepitheliomas and malignant transformation
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.
- University Hospital Cologne Germany
- University of Zurich Switzerland
- University of the Republic Uruguay
Adult, Male, Skin Neoplasms, Tumor Suppressor Proteins, 10177 Dermatology Clinic, 610 Medicine & health, Middle Aged, Deubiquitinating Enzyme CYLD, Pedigree, 2708 Dermatology, Cell Transformation, Neoplastic, Phenotype, Neoplastic Syndromes, Hereditary, Humans, Female, Germ-Line Mutation, Aged
Adult, Male, Skin Neoplasms, Tumor Suppressor Proteins, 10177 Dermatology Clinic, 610 Medicine & health, Middle Aged, Deubiquitinating Enzyme CYLD, Pedigree, 2708 Dermatology, Cell Transformation, Neoplastic, Phenotype, Neoplastic Syndromes, Hereditary, Humans, Female, Germ-Line Mutation, Aged
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