What is the role of genetic factors in the etiology of hidradenitis suppurativa (HS)?

Updated: Aug 30, 2019
  • Author: Marina Jovanovic, MD, PhD; Chief Editor: William D James, MD  more...
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Answer

Although the inciting influences for the follicular occlusion and sinus tract formation have not been fully elucidated, genetic factors may play a role. More than 15 years ago, the existence of a familial form of hidradenitis suppurativa with autosomal dominant inheritance was proposed. The disease frequency among first-degree relatives of patients with familial hidradenitis suppurativa was 34%. [33]

Heterozygous mutations were have been reported in the gamma-secretase genes PSENEN, PSEN1, and NCSTN in some patients with hidradenitis suppurativa. [34] One member of this gene complex, termed nicastrin (NCSTN), lies on chromosome 1 within the previously reported region 1p21.1-1q25.3 on chromosome 1, where the AI (acne inversa) gene (one putative genetic locus in hidradenitis suppurativa), was mapped. [35]


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