Erythrokeratodermia variabilis et progressiva 4

An erythrokeratodermia variabilis caused by a variation in the KDSR gene, which impairs the sphingolipid pathway enzyme 3-ketodihydrosphingosine reductase. Affected individuals develop severe localized and acral hyperkeratotic, erythematous and scaly plaques, particularly on the face, genitals, hands and feet. Some individuals also exhibit thrombocytopenia or abnormal platelet production, reflecting the role of sphingolipid metabolism in megakaryocyte maturation.