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Hidradenitis Suppurativa: Comprehensive Review of Predisposing Genetic Mutations and Changes.

Abdulhadi H JfriElizabeth A O'BrienIvan V LitvinovAfsaneh AlaviElena Netchiporouk
Published in: Journal of cutaneous medicine and surgery (2019)
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.
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