Departments of Dermatology and Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
J Invest Dermatol. 2019 Mar;139(3):535-540. doi: 10.1016/j.jid.2018.08.027. Epub 2019 Jan 19.
Despite extensive discovery about the mutations underlying genetic skin disorders, there have been few therapeutic advances. Better understanding of the molecular changes that may lead to the phenotypic manifestations of genetic disorders may lead to the discovery of new pharmacologic interventions. The ichthyoses are characterized by scaling, inflammation, and an impaired epidermal barrier. Recent studies have uncovered T helper type 17 skewing in ichthyotic skin, resembling psoriasis, and high frequencies of IL-17- and IL-22-expressing T cells in blood, correlating with severity and transepidermal water loss. Repurposing systemic T helper type 17/IL-23-inhibitory therapies for psoriasis may prove useful for patients with ichthyosis.
尽管人们对导致遗传性皮肤疾病的突变进行了广泛的研究,但治疗进展却很少。更好地了解可能导致遗传性疾病表型表现的分子变化,可能会发现新的药物干预措施。鱼鳞病的特征是鳞片、炎症和表皮屏障受损。最近的研究发现,鱼鳞病皮肤中有 Th17 偏向,类似于银屑病,并且血液中 IL-17 和 IL-22 表达的 T 细胞频率较高,与严重程度和经表皮水分流失相关。重新利用针对银屑病的全身性 Th17/IL-23 抑制性疗法可能对鱼鳞病患者有用。