Erythrokeratodermia variabilis

Erythrokeratodermia variabilis (pronunciation: eh-rith-ro-ker-a-to-der-mia va-ri-a-bil-is) is a rare genetic skin disorder characterized by transient red patches and fixed scaling plaques. The term is derived from the Greek words "erythros" (red), "kerato" (horny), "derma" (skin), and the Latin "variabilis" (variable), reflecting the changing nature of the skin lesions.

Symptoms

The primary symptoms of Erythrokeratodermia variabilis include red, thickened patches of skin that can appear anywhere on the body but are most commonly found on the limbs, buttocks, and trunk. These patches can change in size, shape, and location over time.

Causes

Erythrokeratodermia variabilis 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. Mutations in these genes disrupt the normal functioning of skin cells, leading to the characteristic symptoms of erythrokeratodermia variabilis.

Diagnosis

Diagnosis of Erythrokeratodermia variabilis is typically based on the characteristic skin findings. Genetic testing can confirm the diagnosis.

Treatment

Treatment for Erythrokeratodermia variabilis primarily involves managing the symptoms. This can include the use of emollients to moisturize the skin and keratolytics to remove excess skin cells. In some cases, retinoids may be used to slow the production of skin cells.

Related Terms

• Keratoderma
• Erythema
• Genodermatosis
• Gap junction

External links

• Medical encyclopedia article on Erythrokeratodermia variabilis
• Wikipedia's article - Erythrokeratodermia variabilis

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