Novel variants of MEFV and NOD2 genes in familial hidradenitis suppurativa: A case report

Abstract

We report a two-generation Canadian family of Armenian ancestry with hidradenitis suppurativa where novel mutations in MEVF and NOD2 genes were identified. The father and both children shared a mild-to-moderate hidradenitis suppurativa phenotype together with the features of follicular occlusion (e.g. acne and scalp folliculitis). Based on our findings and previous literature, we recommend considering genetic testing with a periodic fever/autoinflammatory disorder panel in patients with a strong family history of hidradenitis suppurativa and lack of common triggers such as smoking and being overweight.