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The Genetics of Hidradenitis Suppurativa

John R Ingram1

  • 1Department of Dermatology & Wound Healing, University Hospital of Wales, Cardiff University, 3rd Floor Glamorgan House, Heath Park, Cardiff CF14 4XN, UK.

Dermatologic Clinics
|December 1, 2015
PubMed

Insights

Genetic mutations in gamma-secretase genes are linked to hidradenitis suppurativa (HS) in some families, suggesting an autosomal dominant inheritance pattern. These mutations can lead to severe HS, affecting even non-traditional skin areas.

Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology

Background:

  • Hidradenitis suppurativa (HS) has a significant familial component, with approximately one-third of patients reporting a family history.
  • The inheritance pattern suggests a monogenic disorder, likely autosomal dominant.

Purpose of the Study:

  • To investigate the genetic basis of hidradenitis suppurativa (HS) in families with a history of the condition.
  • To identify specific gene mutations associated with HS pathogenesis.

Main Methods:

  • Genetic analysis of 6 Han Chinese families with multiple affected individuals.
  • Identification and characterization of mutations in gamma-secretase genes.

Main Results:

  • Several gamma-secretase gene mutations were identified in the studied Han Chinese families.
  • A subset of patients exhibited a severe HS phenotype, including involvement of non-flexural skin sites like the back and chest.
  • Gamma-secretase mutations were found in only a minority of HS patients across different populations.

Conclusions:

  • Mutations in gamma-secretase genes represent a potential cause for a subset of hidradenitis suppurativa (HS) cases.
  • These genetic findings support the role of gamma-secretase in HS, particularly in severe forms.
  • Further research is needed to understand the prevalence and role of gamma-secretase mutations in the broader HS patient population.

Keywords:
Gamma secretaseGeneticsHidradenitis suppurativaNotch signaling

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