Hidradenitis Suppurativa: Comprehensive Review of Predisposing Genetic Mutations and Changes

被引:41
作者
Jfri, Abdulhadi H. [1 ]
O'Brien, Elizabeth A. [1 ]
Litvinov, Ivan, V [1 ]
Alavi, Afsaneh [2 ]
Netchiporouk, Elena [1 ]
机构
[1] McGill Univ, Hlth Ctr, Div Dermatol, Montreal, PQ, Canada
[2] Univ Toronto, Div Dermatol, Womens Coll Hosp, Toronto, ON, Canada
关键词
acne inversa (AI); hidradenitis suppurativa (HS); genes; genetic; genotype; ICHTHYOSIS-DEAFNESS SYNDROME; DOWLING-DEGOS DISEASE; ACNE INVERSA; GAMMA-SECRETASE; PACHYONYCHIA-CONGENITA; ANTIMICROBIAL PEPTIDES; PYODERMA-GANGRENOSUM; BACTERIAL BIOFILM; NCSTN MUTATIONS; FACTOR RECEPTOR;
D O I
10.1177/1203475419852049
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Hidradenitis suppurativa (HS) is a chronic inflammatory skin disorder. A genetic component in the pathogenesis is highly likely considering that similar to 30% to 40% of patients with HS report a family history of the disease. The genetic mutations related to HS that have been reported to date suggest HS can be inherited as a monogenic trait because of a defect in either the Notch signaling pathway or inflammasome function, or as a polygenic disorder resulting from defects in genes regulating epidermal proliferation, ceramide production, or in immune system function. This review provides a summary of genetic mutations reported in patients diagnosed with HS and discusses the mechanisms by which these genes are involved in its pathogenesis.
引用
收藏
页码:519 / 527
页数:9
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