The Genetics of Hidradenitis Suppurativa

Dermatol Clin. 2016 Jan;34(1):23-8. doi: 10.1016/j.det.2015.07.002.

Abstract

A family history of hidradenitis suppurativa (HS) is reported by about one-third of patients, and the pattern of inheritance suggests a single gene disorder inherited as an autosomal dominant trait. Several γ-secretase gene mutations were identified in 6 Han Chinese families with multiple affected family members. Several of the Han Chinese patients had a severe disease phenotype, with involvement of nonflexural skin locations such as the back and chest. These findings have been repeated in other populations, but γ-secretase mutations have been found only in a minority of patients with HS.

Keywords: Gamma secretase; Genetics; Hidradenitis suppurativa; Notch signaling.

Publication types

  • Review

MeSH terms

  • Amyloid Precursor Protein Secretases / genetics*
  • Asian People / genetics
  • Heterozygote
  • Hidradenitis Suppurativa / genetics*
  • Humans
  • Mutation
  • Receptors, Notch
  • Signal Transduction
  • White People / genetics

Substances

  • Receptors, Notch
  • Amyloid Precursor Protein Secretases

Supplementary concepts

  • Hidradenitis suppurativa, familial