Erythrokeratoderma En cocardes with R32W Mutation in GJB3

Abstract

The term erythrokeratodermas is applied to a group of inherited disorders of keratinisation characterized by well demarcated erythematous lesions and hyperkeratotic plaques. Erythrokeratoderma en cocardes is an atypical variant characterised by the presence of transient hyperkeratotic and erythematous plaques. The pathogenetic mechanisms of most of the erythrokeratodermas are related to mutations in the connexin gene family, but until now, there is no information concerning the genetic alterations that are responsible for the appearance of the erythrokeratoderma en cocardes. We report the case of a 31-year-old woman with a 5-year history of fixed erythematous plaques with scaly rims on the arms, trunk, axillae and limb flexures that disappeared spontaneously and recurred every summer. According to clinical features the diagnosis of erythrokeratoderma en cocardes was made. In this patient we have demonstrated the presence of a R32W mutation in the GJB3 gene, but this might be a functionally inconsequential polymorphism. Here in we report the first case of a patient with erythokeratoderma en cocardes in whom a mutation in GJB3 has been found, but the clinical implications of this finding remain to be elucidated.