Hidradenitis Suppurativa - a Mendelian Trait? Genetic Pedigree and Linkage Analysis

Hidradenitis suppurativa (HS) is a chronic, debilitating skin disease characterized by multiple abscesses located predominantly in areas such as armpit, genital, pelvic, and perineum. It is considered an orphan disease of unknown origin and no existing treatment with a population prevalence estimated between 1-4%. It develops in otherwise healthy patients after puberty and affects patients life-long. HS often requires multiple surgical procedures to drain large abscesses, or hospitalization to treat infected wounds, can lead to feelings of personal embarrassment and social stigmatization.

Anecdotal evidence from affected families shows that HS often "runs in families" and may be inherited in a Mendelian fashion; however, no adequately powered study has been undertaken to investigate this hypothesis. This project aims to characterize the inheritance pattern of HS in families, and identify the genetic cause of this disease in those families with evidence for monogenic inheritance.

Data collection includes blood sample analysis (DNA), medical history, and information pertaining to any known family history of HS, from which a familial pedigree can be generated. This 'family-based' genetic study design will include both affected and unaffected family members, ideally spanning several generations. Therefore, study patients will be asked to refer their immediate and extended (affected and unaffected) family members to this research study.