Recent advances in hidradenitis suppurativa: Role of race, genetics, and immunology

Abstract

Hidradenitis suppurativa (HS) is a multifactorial chronic skin disease characterized by inflammation around the hair follicles commonly affecting intertriginous areas. The underlying pathogenesis of HS and its molecular mechanisms are largely understudied. Genetic studies in families have identified variants within the γ-secretase complex associated with HS; however, no definitive genotype-phenotype correlations have been made. The lack of knowledge regarding the intersection of genetics, immunology and environmental risk factors is a major obstacle to improving treatment for patients with HS. This article provides an overview of the role of race, genetics, and immunology in HS to provide insight into the multiple factors influencing the pathophysiology of HS.

Hidradenitis suppurativa: Detangling phenotypes and identifying common denominators

“…This renders the phenotypic picture of described mutations difficult. Secondly, certain descriptions might have limited value due to encompassing solely Caucasian populations, while literature has highlighted phenotypic differences in distinct ancestries 139 . However, recent studies contradict this assumption 140 .…”

“…Secondly, certain descriptions might have limited value due to encompassing solely Caucasian populations, while literature has highlighted phenotypic differences in distinct ancestries. 139 However, recent studies contradict this assumption. 140 Thirdly, previously considering familial HS forms monogenic 141 might contribute to the weak genotypephenotype correlation, as recent studies pinpointed the possible role of gene-gene interaction and additive epigenetic factors in HS development.…”

NK and NKT cells in the pathogenesis of Hidradenitis suppurativa: Novel therapeutic strategy through targeting of CD2

“…Initial analysis of six HS patients by scRNAseq identified cells with a gene signature profile representing NK cell populations (CD3 + NKT and CD3 - classical NK) are predominant in lesional skin. Other prominent lymphoid cell populations in HS included CD4 + T cells and B lineage cells, as previously described ( 9, 13, 16, 22 ). In HS B cells mostly organized with tertiary follicle or germinal center like structures as recently reported ( 76 ).…”

“…Although the disease is underdiagnosed, currently, the estimated world-wide prevalence is 1-4% with a female-to-male ratio of 3:1 (4,5). The mean onset of the disease is 21.8 years and individuals of African ancestry are more commonly affected than those of European ancestry (6)(7)(8)(9). The clinical features of the disease include painful nodules, malodorous discharge, recurrent abscesses and development of scars and fibrosis (1,2,10,11).…”

Editorial: Updates on hidradenitis suppurativa – Pathogenesis, diagnosis and treatment

“…Hidradenitis suppurativa (HS) is a chronic, debilitating, inflammatory disease of the pilosebaceous unit characterized by painful nodules, abscesses, sinus tracts, and scar formation, affecting ~1% of the general population with common onset in young adulthood ( 1 ). HS is clinically under-recognized, and the diagnosis takes, in median, 7 years to be made ( 2 ). It has an extremely high comorbidity burden, rate of hospitalization, and recalcitrance to treatment deeply affecting patients' quality of life ( 1 , 2 ).…”