γ-Secretase mutations in acne inversa

VernacularTitle: γ分泌酶基因突变在反常性痤疮的研究进展
Author: Pengjun ZHOU ¹ ; Baoxi WANG ² ; Lihang LIN ³ ; Xuemin XIAO ³
Author Information

1. Graduate School of Fujian Medical University, Fuzhou 350001, China
2. Department of Dermatology, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100144, China
3. Department of Dermatology, Fujian Medical University Union Hospital, Fuzhou 350001, China
Publication Type:Review
Keywords: Hidradenitis suppurativa; γ -Secretase; Mutation; Receptors, Notch; Pathogenesis
From: Chinese Journal of Dermatology 2019;52(9):656-659
CountryChina
Language:Chinese
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.