Erythrokeratodermia variabilis

Erythrokeratodermia variabilis is a rare autosomal dominant skin disorder that usually presents at birth or during the first year of life. It is also known as erythrokeratodermia figurata variabilis, keratosis extremitatum progrediens, Mendes da Costa syndrome and progressive symmetric erythrokeratoderma. It is thought to be caused by mutations in genes encoding connexin channel proteins in the epidermis, which disturb the regulation of homeostasis in keratinocytes, and it can be associated with GJB3 and GJB4. One type is characterized by generalized, persistent, brown hyperkeratosis with accentuated skin markings, while a second type is localized, limited in extent and marked by sharply demarcated, hyperkeratotic plaques. The condition was characterized in 1925.