Erythrokeratodermia variabilis

Erythrokeratodermia variabilis (EKV) is a rare skin disorder characterized by transient red patches and fixed scaling plaques. The condition is usually present at birth or appears in the first years of life.

Symptoms

The main symptoms of EKV include:

• Transient erythematous patches: These are red patches that come and go. They can appear anywhere on the body and usually last for a few minutes to hours.
• Fixed scaling plaques: These are thick, scaly patches that are always present. They are usually found on the limbs, buttocks, and trunk.

Causes

EKV is caused by mutations in the GJB3 or GJB4 genes. These genes provide instructions for making proteins that form gap junctions, which allow cells to communicate with each other.

Diagnosis

Diagnosis of EKV is based on the clinical features and can be confirmed by genetic testing.

Treatment

There is no cure for EKV, but treatments can help manage the symptoms. These may include emollients, keratolytics, and retinoids.

See also

• List of cutaneous conditions
• Genodermatoses

References

Erythrokeratodermia variabilis Resources
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