Keratolytic winter erythema

Lore & Background

Keratolytic winter erythema (KWE) was first described in the town of Oudtshoorn, Western Cape, South Africa, and is notably prevalent among the Afrikaner population. The disorder is inherited in an autosomal dominant manner, meaning a single copy of the defective gene is sufficient to cause the condition. It can also arise as a spontaneous mutation in individuals with no family history. The gene responsible is located on chromosome 8, between regions 8q22 and 8q23, though no specific mutation has yet been identified as the cause.

Reader's Guide

Keratolytic winter erythema is significant as a rare genodermatosis with a strong founder effect in the Afrikaner population, where it occurs at a rate of approximately 1 in 7,200. Its distinguishing feature is the seasonal onset and worsening of symptoms during winter, which helps differentiate it from other erythematic skin disorders. The condition causes erythema, hyperkeratosis, and painful peeling of the skin on the palms and soles, with severe cases leading to life-altering debilitation. Research has localized the candidate gene to chromosome 8q22–8q23, but the exact pathogenic mutation remains unknown. The disorder has also been reported in Germany and other northwestern European countries, suggesting multiple ancestral origins. Its study contributes to understanding genetic skin diseases and the role of founder effects in population genetics.

Did You Know?

• Keratolytic winter erythema is also called Oudtshoorn skin after the town in South Africa where it was first described.
• Symptoms typically begin in winter and can first appear from early childhood to young adulthood, sometimes attenuating after age 30.
• The candidate gene for KWE is located on chromosome 8 between regions 8q22 and 8q23, but no specific mutation has been confirmed.