【摘要】 可变性红斑角皮病是一种罕见的常染色体显性遗传性皮肤病,以可变的片状红斑和固定的角化过度性斑快为特征,主要由GJB3和GJB4基因突变引起,具有遗传异质性。近年来对可变性红斑角皮病的分子遗传学的研究,包括基因定位与结构、编码蛋白的结构与功能、突变分析以及对功能的影响均取得了很大进展,为该病基因诊断与治疗创造良好的条件。更多还原

【Abstract】 Erythrokeratodermia variabilis is a rare autosomal dominant genodermatosis characterized by transient erythema and fixed hyperkeratotic plaques. The disorder is genetically heterogeneous and may be associated with the mutations in GJB3 and GJB4 genes encoding connexin (Cx)31 and Cx30.3, respectively. Recently great advancement has been made in the research of molecular genetics in erythrokeratodermia variabilis, including the gene location and structure, the structure and function of encoding proteins, the gene mutation and its effects, which will lay a sound foundation for gene diagnosis and therapy of erythrokeratodermia variabilis.更多还原