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Review
. 2019 Sep/Oct;23(5):519-527.
doi: 10.1177/1203475419852049. Epub 2019 Jun 6.

Hidradenitis Suppurativa: Comprehensive Review of Predisposing Genetic Mutations and Changes

Abdulhadi H Jfri  1 , Elizabeth A O'Brien  1 , Ivan V Litvinov  1 , Afsaneh Alavi  2 , Elena Netchiporouk  1
Affiliations
Review

Hidradenitis Suppurativa: Comprehensive Review of Predisposing Genetic Mutations and Changes

Abdulhadi H Jfri et al. J Cutan Med Surg. 2019 Sep/Oct.

Abstract

Hidradenitis suppurativa (HS) is a chronic inflammatory skin disorder. A genetic component in the pathogenesis is highly likely considering that ~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.

Keywords: acne inversa (AI); genes; genetic; genotype; hidradenitis suppurativa (HS).

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