γ分泌酶基因突变在反常性痤疮的研究进展

doi:10.3760/cma.j.issn.0412-4030.2019.09.015

Abstract

Abstract: 【Abstract】 Acne inversa is a chronic inflammatory skin disease of the folliculo-sebaceous-apocrine unit. Currently， genetic and immunological factors are hot topics in the study of its pathogenesis. Genetic factors are mainly related to γ-secretase mutations, and abnormal expression of the γ-secretase-Notch axis leads to increased keratinization of hair follicles and inflammation in some patients with haploinsufficiency of the γ-secretase gene. Mutations in the γ-secretase gene are not necessary for acne inversa, and the risk of Alzheimer′s disease in familial acne inversa patients still remains unclear. Some progress has been made in researches on the association of genotype with phenotype in acne inversa patients, but further studies with large sample size are needed for verification.

Key words: Hidradenitis suppurativa , γ-Secretase, Mutation, Receptors, Notch, Pathogenesis

Zhou Pengjun, Wang Baoxi, Lin Lihang, Xiao Xuemin. γ-Secretase mutations in acne inversa[J].Chinese Journal of Dermatology, 2019, 52(9): 656-659.

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γ-Secretase mutations in acne inversa

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