1.
Dermatology
; 232(1): 30-7, 2016.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26329847
RESUMO
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.
Assuntos
Mutação em Linhagem Germinativa/genética , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/patologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Proteínas Supressoras de Tumor/genética , Adulto , Idoso , Transformação Celular Neoplásica/genética , Enzima Desubiquitinante CYLD , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo
2.
Arch Dermatol
; 145(12): 1447-52, 2009 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20026857