472 Distribution of hidradenitis suppurativa monogenic etiologies in a racially diverse specialty clinic cohort

Abstract

Hidradenitis suppurativa (HS) is an inflammatory skin disease that disproportionally affects African American women and has many unmet needs. Disease mutations have been reported in three γ-secretase genes (NSCTN, PSENEN, and PSEN1) and PSTPIP1. The population relevance of these monogenic etiologies is incompletely characterized. Previous studies, limited in size and ancestral diversity, utilized small cohorts of either European or Asian ancestry, yielding unstable prevalence estimates (0%-6%) that may not be generalizable to other populations.