A heterozygous mutation in GJA1 gene in Chinese family with serious erythrokeratodermia variabilis et progressive

To the Editor:Erythrokeratodermia variabilis (EKV;MIM 133200) is characterized by the coexistence of transient,figurate,erythematous patches,and localized keratotic hyperkeratosis.EKV shows marked phenotypic heterogeneity,even within kindreds bearing the same diseasecausing mutation.[1] The term EKV et progressiva (EKVP) is a severe variant of EKV and has been proposed to encompass the diversity of phenotypes,ranging from limited hyperkeratotic plaques and erythematous patches to severe progressive symmetric erythrokeratodermia which can feature more generalized cutaneous involvement.