Jfri Abdulhadi, Litvinov Ivan V, Netchiporouk Elena, O'Brien Elizabeth
Division of Dermatology, McGill University Health Centre, Montreal General Hospital, Montreal, QC, Canada.
SAGE Open Med Case Rep. 2020 Sep 25;8:2050313X20953113. doi: 10.1177/2050313X20953113. eCollection 2020.
We report a two-generation Canadian family of Armenian ancestry with hidradenitis suppurativa where novel mutations in and 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.
我们报告了一个有化脓性汗腺炎的亚美尼亚裔加拿大家庭，该家庭有两代人，在其中发现了*[具体基因名称1]和[具体基因名称2]*基因的新突变。父亲和两个孩子都有轻度至中度的化脓性汗腺炎表型以及毛囊闭锁的特征（如痤疮和头皮毛囊炎）。基于我们的研究结果和先前的文献，我们建议，对于有化脓性汗腺炎家族病史且缺乏吸烟和超重等常见诱因的患者，考虑进行周期性发热/自身炎症性疾病检测的基因检测。
