Keratolytic winter erythema

Keratolytic winter erythema (KWE) is a rare, autosomal dominant skin disorder characterized by recurrent episodes of palmoplantar erythema and epidermal peeling. KWE was first described in South Africa and is known to be prevalent among Afrikaners, but cases have been reported in patients of other ethnicities as well.

Symptoms and Signs

The primary symptom of KWE is the cyclic occurrence of red, scaly patches on the palms of the hands and soles of the feet. These patches may also appear on the arms, legs, and trunk. The skin peeling and erythema typically worsen in the winter and improve in the summer, hence the name "winter erythema."

Causes

KWE is caused by mutations in the OCTN2 gene. This gene provides instructions for making a protein that is involved in the transport of certain substances across cell membranes. The mutations that cause KWE result in the production of an abnormal OCTN2 protein, which disrupts the normal function of cells, leading to the characteristic features of this disorder.

Diagnosis

Diagnosis of KWE is based on the clinical presentation of the skin symptoms, particularly the cyclic nature of the erythema and peeling. Genetic testing can confirm a diagnosis by identifying a mutation in the OCTN2 gene.

Treatment

There is currently no cure for KWE, and treatment is focused on managing the symptoms. Emollients and keratolytic agents can be used to soften and remove the scaly skin. In some cases, retinoids may be used to slow down the rate of skin cell growth.

See also

• List of cutaneous conditions
• Genodermatoses

References

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