Department of Dermatology, The Netherlands and European Reference Network - Skin, Maastricht University Medical Center, Maastricht, The Netherlands.
GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, P. Debyelaan 25, 6229HX, Maastricht, The Netherlands.
Orphanet J Rare Dis. 2022 Jul 15;17(1):269. doi: 10.1186/s13023-022-02430-6.
Ichthyosis covers a wide spectrum of diseases affecting the cornification of the skin. In recent years, new advances in understanding the pathophysiology of ichthyosis have been made. This knowledge, combined with constant development of pathogenesis-based therapies, such as protein replacement therapy and gene therapy, are rather promising for patients with inherited skin diseases. Several ongoing trials are investigating the potency of these new approaches and various studies have already been published. Furthermore, a lot of case series report that biological therapeutics are effective treatment options, mainly for Netherton syndrome and autosomal recessive congenital ichthyosis. It is expected that some of these new therapies will prove their efficacy and will be incorporated in the treatment of ichthyosis.
鱼鳞病涵盖了广泛的影响皮肤角质化的疾病。近年来,人们对鱼鳞病病理生理学的认识有了新的进展。这些知识,加上基于发病机制的治疗方法的不断发展,如蛋白质替代疗法和基因疗法,为遗传性皮肤病患者带来了很大的希望。目前正在进行多项临床试验来研究这些新方法的效果,已经有多项研究发表。此外,许多病例系列报告表明,生物疗法是有效的治疗选择,主要针对 Netherton 综合征和常染色体隐性先天性鱼鳞病。预计其中一些新疗法将证明其疗效,并将被纳入鱼鳞病的治疗中。