Abstract
Cylindromatosis, trichoepithelioma and Brooke-Spiegler syndrome are rare autosomal dominant tumors of skin appendages. As a tumor suppressor, CYLD gene mutation is closely related to the occurrence of these tumors. The CYLD gene encodes a deubiqutination enzyme which can negatively regulate nuclear factor (NF)-κB signaling pathway and suppress the initiation of tumors by deubiquitinating the tumor necrosis factor receptor-associated factor (TRAF) and the regulatory subunit of Ikappa B kinase complex. This review describes the advances in the researches in CYLD gene mutations in, genotype-phenotype correlation in, as well as the treatment of skin appendage tumors. Key words: Genes, CYLD; Neoplasms, adnexal and skin appendage; Genotype; Phenotype
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