Erythrokeratodermia variabilis

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Erythrokeratodermia variabilis (EKV) is a rare genetic disorder characterized by the presence of transient red patches (erythema) and persistent thickened skin (hyperkeratosis). This condition is typically evident from birth or early infancy and can vary significantly in its presentation and severity.

Clinical Features

Individuals with erythrokeratodermia variabilis exhibit two primary skin abnormalities:

• **Erythematous Patches**: These are well-demarcated, red patches that can appear anywhere on the body. They are transient and can change in size, shape, and location over time.
• **Hyperkeratosis**: This refers to areas of thickened skin that are usually symmetric and persistent. The hyperkeratotic plaques are often found on the extremities, buttocks, and face.

Genetics

EKV is primarily inherited in an autosomal dominant manner, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. Mutations in the GJB3 and GJB4 genes, which encode the connexin proteins connexin 31 and connexin 30.3, respectively, are known to cause EKV. These proteins are involved in the formation of gap junctions, which are essential for cell communication in the skin.

Diagnosis

The diagnosis of erythrokeratodermia variabilis is based on clinical examination and the characteristic appearance of the skin lesions. Genetic testing can confirm the diagnosis by identifying mutations in the GJB3 or GJB4 genes. A skin biopsy may also be performed to rule out other conditions with similar presentations.

Treatment

There is no cure for EKV, but treatment focuses on managing symptoms. Options include:

• **Topical Treatments**: Emollients and keratolytic agents can help reduce scaling and hyperkeratosis.
• **Systemic Treatments**: Retinoids, such as acitretin, may be prescribed for severe cases.
• **Lifestyle Adjustments**: Avoiding triggers that exacerbate erythema, such as heat and friction, can help manage symptoms.

Prognosis

The prognosis for individuals with erythrokeratodermia variabilis varies. While the condition is chronic and can significantly impact quality of life, it is not life-threatening. With appropriate management, many individuals can lead relatively normal lives.

See Also

• Ichthyosis
• Keratoderma
• Genodermatoses
• Connexin