LAUSR

Erythrokeratodermia variabilis (EKV) is a rare, inherited skin disease characterized by migratory erythematous areas and fixed hyperkeratosis plaques, which is most commonly caused by mutations in the GJB3, GJB4 or GJA1 gene. This study reports a 5-month-old male infant presenting with erythematous skin lesions on the trunk and brown hyperkeratotic plaques with a unique swirling pattern on the extremities. Whole exome sequencing (WES) revealed a heterozygous missense mutation c.134G>C in the GJB3 gene, which has not been reported before. The PROVEAN analysis revealed a PROVEAN score of -3.065, which was below the threshold of -2.5, moreover, the 3-D structure predicted missense mutation p.Gly45Ala could compromise the three-dimensional stability of the GJB3 protein, suggesting a deleterious effect. In Conclusion, we report a novel missense mutation (p. Gly45Ala) in the GJB3 gene that caused EKV accompanying with a unique swirling pattern in a Chinese family, which broadens the genetic and phenotypic spectrum of EKV.