Erythrokeratodermia variabilis et progressiva

Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. Although its signs and symptoms vary, the condition is characterized by two major features. The first is hyperkeratosis, which is rough, thickened skin. These patches are usually reddish-brown and can either affect many parts of the body or occur in only a small area. They tend to be fixed, meaning they rarely spread or go away. However, the patches can vary in size and shape, and in some affected people they get larger over time. The areas of hyperkeratosis are generally symmetric, which means they occur in the same places on the right and left sides of the body.

The second major feature of EKVP is patches of reddened skin called erythematous areas. Unlike the hyperkeratosis that occurs in this disorder, the erythematous areas are usually transient, which means they come and go. They vary in size, shape, and location, and can occur anywhere on the body. The redness is more common in childhood and can be triggered by sudden changes in temperature, emotional stress, or trauma or irritation to the area. It usually fades within hours to days.

Other names

EKV; EKV-P; EKVP; Erythrokeratodermia variabilis; Erythrokeratodermia variabilis of Mendes da Costa; Erythrokeratodermia, progressive symmetric; Progressive symmetrical erythrokeratoderma of Gottron

Inheritance pattern

Autosomal dominant; Autosomal recessive

Related genes

GJB3; GJA1; KRT83; GJB4

Source: MedlinePlus Genetics, U.S. National Library of Medicine.