Treatment of Epidermal Pathology in a Pediatric Patient With Keratitis-Ichthyosis-Deafness (KID) Syndrome With Topical Mefenamic Acid

局部应用甲芬那酸治疗患有角膜炎-鱼鳞病-耳聋(KID)综合征的儿童患者的表皮病变

阅读:2

Abstract

Keratitis-ichthyosis-deafness (KID) syndrome is a rare genetic condition typically presenting at birth with ichthyosiform erythroderma and bilateral hearing loss and later progressing to diffuse keratodermatous plaques with scaling. The condition is associated with mutations in the GJB2 gene, which lead to aberrant activation of connexin hemichannels in keratinocytes. While no targeted treatment currently exists, a previously published in vivo study demonstrated that flufenamic acid (FFA), a nonspecific connexin inhibitor, reduces epidermal pathology in transgenic mouse models expressing the lethal GJB2 mutation. Herein, we report the case of a 5-year-old boy with KID syndrome presenting with painful, persistent scalp lesions, which responded remarkably well to topical mefenamic acid, offering a potential novel therapy for managing this challenging condition.

特别声明

1、本页面内容包含部分的内容是基于公开信息的合理引用;引用内容仅为补充信息,不代表本站立场。

2、若认为本页面引用内容涉及侵权,请及时与本站联系,我们将第一时间处理。

3、其他媒体/个人如需使用本页面原创内容,需注明“来源:[生知库]”并获得授权;使用引用内容的,需自行联系原作者获得许可。

4、投稿及合作请联系:info@biocloudy.com。