Erythrokeratodermia is a group of keratinization disorders. [1]
Types include:
- Erythrokeratodermia variabilis
- Erythrokeratodermia with ataxia
- Progressive symmetric erythrokeratodermia
Erythrokeratodermia variabilis is a rare autosomal dominant disorder that usually presents at birth or during the first year of life. 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.
Erythrokeratodermia with ataxia is a condition characterized by erythematous, hyperkeratotic plaques with fine, white, attached scales distributed almost symmetrically on the extremities.
Progressive symmetric erythrokeratodermia is a rare, autosomal dominant skin condition that manifests soon after birth with erythematous, hyperkeratotic plaques that are symmetrically distributed on the extremities, buttocks, and face, but sparing the trunk. No other clinical symptoms nor mental or physical signs are usually associated with the condition.
