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 | |
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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]