Erythrokeratodermia

Erythrokeratodermia (pronounced: eh-rith-oh-kair-uh-toe-derm-ee-uh) is a rare genetic skin disorder characterized by red, thickened areas of skin that can be either fixed or transient. The term is derived from the Greek words "erythros" meaning red, "kerato" meaning horn-like, and "derma" meaning skin.

Symptoms

The primary symptoms of erythrokeratodermia include erythema (redness of the skin) and hyperkeratosis (thickening of the skin). These symptoms can appear at birth or during early childhood and can vary greatly in severity and duration. Some individuals may also experience itching or discomfort.

Causes

Erythrokeratodermia 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 gap junctions, leading to the symptoms of erythrokeratodermia.

Diagnosis

Diagnosis of erythrokeratodermia is typically based on the characteristic skin findings. Genetic testing can confirm the diagnosis and identify the specific gene mutation.

Treatment

There is currently no cure for erythrokeratodermia. Treatment is aimed at managing the symptoms and may include the use of emollients, keratolytics, and retinoids. In some cases, oral retinoids may be used to reduce the thickness of the skin.

Related Terms

External links

Medical encyclopedia article on Erythrokeratodermia
Wikipedia's article - Erythrokeratodermia

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Erythrokeratodermia