Erythrokeratodermia variabilis

"Mendes da Costa" redirects here. For people with this name, see Mendes (name). "Mendes da Costa syndrome" redirects here. It is not to be confused with Da Costa's syndrome.

Erythrokeratodermia variabilis (also known as "erythrokeratodermia figurata variabilis", "keratosis extremitatum progrediens", "keratosis palmoplantaris transgrediens et progrediens",^[2]: 509 "Mendes da Costa syndrome",^[3] "Mendes da Costa type erythrokeratodermia", and "progressive symmetric erythrokeratoderma") is a rare autosomal dominant disorder that usually presents at birth or during the first year of life.^[4] To date, it is thought to be caused by mutations in genes encoding for connexin channels proteins in the epidermis, leading to the misregulation of homeostasis in keratinocytes.^[5]

Erythrokeratodermia variabilis
Other names	Progressive symmetric erythrokeratodermia, Gottron type
Erythrokeratodermia variabilis is inherited in an autosomal dominant manner of inheritance
Specialty	Dermatology, medical genetics
Usual onset	Infancy

One type is characterized by generalized, persistent, brown hyperkeratosis with accentuated skin markings, while a second type is localized, with involvement that is limited in extent and characterized by sharply demarcated, hyperkeratotic plaques.^{[2][6]: 565}

It can be associated with GJB3^[7] and GJB4.^[8] It was characterized in 1925.^[9]

See also

• List of cutaneous conditions