Erythrokeratoderma variabilis

Erythrokeratodermia variabilis is a congenital disease that belongs to the group of erythrokeratoderms. It describes a nonhyosiform dermatosis with hyperkeratosis and shape-changing erythema.

The disease manifests already in the newborn and at the latest in infancy. The skin reddening forms are rapidly advancing and heal fast. The strong expansive hyperkeratosis can lead to functional impairment. The lesions are localized to the extremities, face and buttocks, most of the time hand and foot surfaces are unaffected.

There have been reports of spontaneous regression in several cases.

There are cases of autosomal recessive inheritance with mutations in the GBJ3 gene, but also heterozygous mutations in genes encoding connexin.