Hidradenitis Suppurativa: Comprehensive Review of Predisposing Genetic Mutations and Changes

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

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).

Publication types

  • Review

MeSH terms

  • Amyloid Precursor Protein Secretases / genetics*
  • Hidradenitis Suppurativa / genetics*
  • Humans
  • Inflammasomes / genetics
  • Inflammation / genetics*
  • Mutation
  • Receptors, Notch / genetics*
  • Signal Transduction / genetics
  • Skin Physiological Phenomena / genetics

Substances

  • Inflammasomes
  • Receptors, Notch
  • Amyloid Precursor Protein Secretases