Ishida-Yamamoto Akemi
Department of Dermatology, Asahikawa Medical University, Asahikawa, Japan.
J Dermatol. 2016 Mar;43(3):280-5. doi: 10.1111/1346-8138.13220.
Erythrokeratodermia variabilis et progressiva (EKVP) is a rare inherited skin disease characterized by fixed hyperkeratotic plaques and transient erythematous patches. EKVP is most often transmitted in an autosomal dominant manner. Causal mutations were found in the GJB3, GJB4 and GJA1 genes encoding connexins 31, 30.3 and 43, respectively. Approximately 50% of affected individuals develop palmoplantar keratoderma. Connexins are components of gap junctions, which are intercellular channels that are found in almost all tissues including the skin. Treatment of EKVP usually involves use of topical keratolytics and emollients resulting in some improvement in hyperkeratosis. Low-dose systemic retinoid may be beneficial. Novel therapies targeting connexin hemichannels and gap junctions may become available in the future.
进行性可变红斑角皮病（EKVP）是一种罕见的遗传性皮肤病，其特征为固定的角化过度斑块和短暂的红斑。EKVP通常以常染色体显性方式遗传。分别在编码连接蛋白31、30.3和43的GJB3、GJB4和GJA1基因中发现了致病突变。约50%的受累个体出现掌跖角皮病。连接蛋白是间隙连接的组成部分，间隙连接是几乎在包括皮肤在内的所有组织中都能找到的细胞间通道。EKVP的治疗通常包括使用局部角质松解剂和润肤剂，这会使角化过度得到一定改善。低剂量全身性维甲酸可能有益。未来可能会有针对连接蛋白半通道和间隙连接的新型疗法。
