The epidermis represents an essential barrier versus a broad range of exogenous stimuli. To form a functional epidermis, keratinocytes express filaggrin which plays a vital role in atopic dermatitis. However the relat...The epidermis represents an essential barrier versus a broad range of exogenous stimuli. To form a functional epidermis, keratinocytes express filaggrin which plays a vital role in atopic dermatitis. However the relationship between filaggrin and other skin diseases remains unknown. In our study we chose 5 different common skin diseases and analyzed the expression of filaggrin in the skin using immunohistochemistry. Imiquimod (IMQ)-induced mouse model was used for detecting the filaggrin level and barrier function. The results indicated that the expression of filaggrin is reduced in psoriasis compared to the other skin diseases. Furthermore in vivo study showed that the skin barrier is defected with a decreased expression of filaggrin in IMQ-induced psoriasis mouse model, which is accompanied with an increased level of IL-17/IL-23. In conclusion, the defective skin barrier is involved in the development of psoriasis in human and mice with a reduced expression of filaggrin which may be regulated by the increased level of IL-17/IL-23 in the skin.展开更多
Pachyonychia congenital (PC), consist of a group of rare autosomal-dominant ectodermal disorders. Symmetrically thickened, dystrophic fingernails and toenails are the defining characteristic of pachyonychia congenita....Pachyonychia congenital (PC), consist of a group of rare autosomal-dominant ectodermal disorders. Symmetrically thickened, dystrophic fingernails and toenails are the defining characteristic of pachyonychia congenita. There are two main clinical subtypes of pachyonychia congenita: Pachyonychia congenita-1 and pachyonychia congenita-2. Pachyonychia congenita-U is another subtypes of pachyonychia congenita, where either a mutation has not been found or has not been investigated. Objectives: The present aim was to indentify the mutation of keratin 6a or keratin 16 gene in the pachyonychia congenita patient. Methods: The proband, her parents and 100 unrelated controls were subjected to mutation detection in keratin 6a or keratin 16 gene. Direct sequencing of all PCR products of the whole coding regions of keratin 6a or keratin 16 was performed to identify the mutation. Results: No mutation was found in keratin 6a or keratin 16 in the proband, her parents, and 100 unrelated and unaffected people. Conclusion: This study reported a Chinese female affected with pachyonychia congenita-1 without mutation in keratin gene.展开更多
文摘The epidermis represents an essential barrier versus a broad range of exogenous stimuli. To form a functional epidermis, keratinocytes express filaggrin which plays a vital role in atopic dermatitis. However the relationship between filaggrin and other skin diseases remains unknown. In our study we chose 5 different common skin diseases and analyzed the expression of filaggrin in the skin using immunohistochemistry. Imiquimod (IMQ)-induced mouse model was used for detecting the filaggrin level and barrier function. The results indicated that the expression of filaggrin is reduced in psoriasis compared to the other skin diseases. Furthermore in vivo study showed that the skin barrier is defected with a decreased expression of filaggrin in IMQ-induced psoriasis mouse model, which is accompanied with an increased level of IL-17/IL-23. In conclusion, the defective skin barrier is involved in the development of psoriasis in human and mice with a reduced expression of filaggrin which may be regulated by the increased level of IL-17/IL-23 in the skin.
文摘Pachyonychia congenital (PC), consist of a group of rare autosomal-dominant ectodermal disorders. Symmetrically thickened, dystrophic fingernails and toenails are the defining characteristic of pachyonychia congenita. There are two main clinical subtypes of pachyonychia congenita: Pachyonychia congenita-1 and pachyonychia congenita-2. Pachyonychia congenita-U is another subtypes of pachyonychia congenita, where either a mutation has not been found or has not been investigated. Objectives: The present aim was to indentify the mutation of keratin 6a or keratin 16 gene in the pachyonychia congenita patient. Methods: The proband, her parents and 100 unrelated controls were subjected to mutation detection in keratin 6a or keratin 16 gene. Direct sequencing of all PCR products of the whole coding regions of keratin 6a or keratin 16 was performed to identify the mutation. Results: No mutation was found in keratin 6a or keratin 16 in the proband, her parents, and 100 unrelated and unaffected people. Conclusion: This study reported a Chinese female affected with pachyonychia congenita-1 without mutation in keratin gene.
