Initial skin lesions in erythrokeratodermia variabilis

Abstract

Case report. The child who currently has 70 days is the second child of healthy parents, but brother of a 30-month-old girl suffering from erythrokeratodermia variabilis Cram-Mevorah type (see EJPD 22, 253-6, 2012). In the latter a missense mutation c.295G>A in the gene GJB4 (Cx30 .3) has been identified by Prof. Daniel Hohl in his laboratory. The mother had already phoned after the birth of the second child to inform us that he had the same disease of the sister and had sent us by email the photo at birth (Fig. 1) and 19 days (Fig. 2). When we observed directly the child aged 70 days, he presented on the cheeks and neck bilaterally circinate erythematous lesions resembling erythema giratum repens (Fig. 3), identical to those that we had observed in his sister. A genetic analysis was programmed for him and his parents.