作者
J. Mazereeuw‐Hautier,Celine J. Granier,Á. Hernández‐Martín,Silvia Vendruscolo Milesi,Hélène Texier,M. Sévérino-Freire,N. Bellon,Christine Bodemer,Robert Gruber,E. Mahé,Fanny Morice‐Picard,Katariina Hannula-Jouppi,Jenny E Murase,S. Barbarot,Eran Cohen‐Barak,Mauricio Torres Pradilla,Anna L. Bruckner,Moise L. Levy,Mark Jean Aan Koh,M. Masson Regnault,Vanya Rossel,C. Chiavérini,Lisa M. Arkin,Hagen Ott,Cristina Has,Kira Süβmuth,Antoni Gostyński,Jason Shourick,Amy S. Paller
摘要
Abstract Background Congenital ichthyoses (CI) comprise a heterogeneous group of genetic diseases requiring lifelong treatment and having a major effect on quality of life. Conventional treatments reduce scaling and skin discomfort; however, they usually have little or no effect on erythema and pruritus. The identification of cytokine alterations in CI raised the possibility of repurposing available biologics. Several case reports in the literature report successes using different biologics. Objective We aimed to report the effects of biologics in real life. Methods This was a retrospective, observational, international multicenter study of patients with CI treated with at least one biologic for a minimum of 3 months. The effect of the biologics was evaluated using an Investigator Global Assessment-Change (IGA-C) scale. A comprehensive literature search was performed in parallel. Results A total of 98 patients were included, with a mean age of 19.7 years and both sexes equally represented. Patients with Netherton syndrome (NS) or congenital ichthyosiform erythroderma (CIE) represented the majority of patients (30% and 21.4%, respectively). Most patients (84.7%) had a severe or very severe form of CI. The most frequently used biologics were inhibitors targeting interleukin-17 (IL-17), IL-12/IL-23, or the IL-4 receptor. The mean duration of treatment was 22+20.1 months. There were 45 responders (45.9%), including 18 patients (18.3%) who were good responders; all had an erythrodermic CI subset and received one of the three main biologics. In 2 NS and CIE, IL-12/IL-23 and IL-4 receptor inhibitors tended to be most effective. Review of the literature revealed a shorter mean duration of use of biologics (11.5+8.5 months) and higher percentage of responders (85.7%), suggesting reporter bias. Conclusion This series identified subsets of CI that may respond to biologics and will aid in designing future clinical trials of biologics for CI.