Hidradenitis Suppurativa: Comprehensive Review of Predisposing Genetic Mutations and Changes. Issue 5 (September 2019)

• Record Type: Journal Article
• Authors: Jfri, Abdulhadi H.; O'Brien, Elizabeth A.; Litvinov, Ivan V.; Alavi, Afsaneh; Netchiporouk, Elena
• Is Part Of: Journal of cutaneous medicine and surgery. Volume 23:Issue 5(2019)
• Page Start: 519
• Page End: 527
• Publication Date: 2019-09
• Subjects: acne inversa (AI) -- hidradenitis suppurativa (HS) -- genes -- genetic -- genotype; Dermatology -- Periodicals; Skin -- Diseases -- Treatment -- Periodicals; Skin -- Surgery -- Periodicals; Dermatology -- Canada -- Periodicals; Skin -- Diseases -- Treatment -- Canada -- Periodicals; Skin -- Surgery -- Canada -- Periodicals; 616.5005
• DOI: 10.1177/1203475419852049
• Languages: English
• ISSNs: 1203-4754

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.