European Reference Networks (ERN Skin), 75015 Paris, France.
Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, 79106 Freiburg, Germany.
Genes (Basel). 2024 Feb 24;15(3):288. doi: 10.3390/genes15030288.
Erythrokeratodermia variabilis (EKV) is a rare genodermatosis characterized by well-demarcated erythematous patches and hyperkeratotic plaques. EKV is most often transmitted in an autosomal dominant manner. Until recently, only mutations in connexins such as (connexin 31), (connexin 30.3), and occasionally (connexin 43) were known to cause EKV. In recent years, mutations in other genes have been described as rare causes of EKV, including the genes , , and . Features of the EKV phenotype can also appear with other genodermatoses: for example, in Netherton syndrome, which hampers correct diagnosis. However, in autosomal recessive congenital ichthyosis (ARCI), an EKV phenotype has rarely been described. Here, we report on seven patients who clinically show a clear EKV phenotype, but in whom molecular genetic analysis revealed biallelic mutations in , which is why the patients are classified in the ARCI group. Our study indicates that ARCI should be considered as a differential diagnosis in EKV.
变异性红斑角化症（EKV）是一种罕见的遗传性皮肤病，其特征是界限清楚的红斑斑块和过度角化斑块。EKV 最常以常染色体显性方式遗传。直到最近，只有连接蛋白（如连接蛋白 31、连接蛋白 30.3，偶尔还有连接蛋白 43）的突变才被认为是导致 EKV 的原因。近年来，其他基因的突变也被描述为 EKV 的罕见原因，包括基因、和。EKV 表型的特征也可能出现在其他遗传性皮肤病中：例如，在 Netherton 综合征中，这会阻碍正确的诊断。然而，在常染色体隐性先天性鱼鳞病（ARCI）中，很少有 EKV 表型的描述。在这里，我们报告了 7 名患者，他们的临床表现明显为 EKV 表型，但分子遗传学分析显示，他们的 基因存在双等位基因突变，这就是为什么这些患者被归类为 ARCI 组的原因。我们的研究表明，在 EKV 中应考虑 ARCI 作为鉴别诊断。
