Acrokeratosis verruciformis

A rare genetic skin disorder

Acrokeratosis verruciformis is a rare genetic disorder that affects the skin, characterized by wart-like lesions. It is an autosomal dominant condition, meaning that only one copy of the altered gene is sufficient to cause the disorder.

Presentation

Acrokeratosis verruciformis typically presents in early childhood or adolescence. The primary feature of the disorder is the development of flat-topped, wart-like papules on the skin. These lesions are most commonly found on the dorsal surfaces of the hands and feet, but they can also appear on the forearms, knees, and other areas.

The lesions are usually skin-colored or slightly pigmented and have a rough, scaly surface. They may be mistaken for verrucae (warts) due to their appearance. Over time, the lesions may become more numerous and can coalesce into larger plaques.

Genetics

Acrokeratosis verruciformis is inherited in an autosomal dominant pattern. This means that an affected individual has a 50% chance of passing the disorder to each of their children. The condition is associated with mutations in the ATP2A2 gene, which is also implicated in Darier's disease.

Diagnosis

Diagnosis of acrokeratosis verruciformis is primarily clinical, based on the characteristic appearance of the skin lesions. A skin biopsy may be performed to confirm the diagnosis and to differentiate it from other similar conditions, such as Darier's disease or epidermodysplasia verruciformis.

Treatment

There is no cure for acrokeratosis verruciformis, but treatment can help manage the symptoms. Options include:

• Topical retinoids to reduce the thickness of the lesions.
• Keratolytic agents to help remove the scaly surface of the lesions.
• Cryotherapy or laser therapy for individual lesions.

Prognosis

The prognosis for individuals with acrokeratosis verruciformis is generally good, as the condition is primarily cosmetic and does not affect overall health. However, the appearance of the lesions can cause psychological distress and may require ongoing management.

Related pages

• Darier's disease
• Epidermodysplasia verruciformis
• Genodermatoses
• Autosomal dominant disorder

Gallery

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  Diagram of autosomal dominant inheritance