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© 2016 The Authors. doi: 10.2340/00015555-2307 Journal Compilation © 2016 Acta Dermato-Venereologica. ISSN 0001-5555 Most cases of erythrokeratoderma variabilis (EKV, OMIM#133200) are inherited in an autosomal dominant manner, although autosomal recessive cases can occur. EKV is caused by mutations in GJB3 or GJB4, which encode connexin (Cx) 31 and Cx30.3, respectively. Clinically, there are 2 characteristic skin manifestations of EKV: localized, sharply circumscribed hyperkeratotic plaques; and migratory erythematous lesions (1, 2). Cxs are components of gap junctions, intercellular junctions that are expressed in several organs, including the skin and the cochlea. Individual Cxs are assembled in groups of 6 to form hemichannels in the plasma membrane, and then 2 hemichannels between adjacent cells combine to form a gap junction (2). To date, 21 Cx genes have been discovered that have essential roles in cell communication and free transfer of small molecules in many organs. In this report, we describe a recurrent mutation in GJB3, p.Gly45Glu, in a Japanese female with EKV. In addition, we review the literature and focus on genotype-phenotype correlations, notably for Cx mutations affecting the first glycine within the first extracellular domain of the protein.