Acrokeratosis verruciformis

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Acrokeratosis verruciformis

Acrokeratosis verruciformis (pronunciation: a-cro-ker-a-tosis ver-u-ci-formis) is a rare, autosomal dominant genetic disorder that primarily affects the skin.

Etymology

The term 'Acrokeratosis verruciformis' is derived from Greek words: 'akron' meaning extremity, 'keratosis' meaning an overgrowth of the horny layer of the skin, and 'verruciformis' meaning wart-like.

Definition

Acrokeratosis verruciformis is characterized by the presence of flat wart-like lesions on the hands and feet. These lesions are typically skin-colored or slightly reddish and are often mistaken for common warts. The condition is usually present from childhood and persists throughout life.

Symptoms

The primary symptom of Acrokeratosis verruciformis is the presence of wart-like lesions on the hands and feet. These lesions are typically flat, skin-colored or slightly reddish, and may vary in size. Other symptoms may include thickening of the skin and mild itching.

Causes

Acrokeratosis verruciformis is caused by mutations in the ATP2A2 gene. This gene provides instructions for making an enzyme that regulates the balance of certain ions in cells. When this gene is mutated, it disrupts the normal balance of ions, leading to the formation of wart-like lesions.

Diagnosis

Diagnosis of Acrokeratosis verruciformis is typically based on the characteristic appearance of the skin lesions. A skin biopsy may be performed to confirm the diagnosis. Genetic testing may also be used to identify mutations in the ATP2A2 gene.

Treatment

There is currently no cure for Acrokeratosis verruciformis. Treatment is typically focused on managing the symptoms and may include the use of topical creams to soften the skin and reduce the appearance of lesions.

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