Acrokeratosis verruciformis

Acrokeratosis verruciformis (AKV), also known as Hopf disease, is a rare genetic dermatological condition characterized by the appearance of flat-topped, wart-like papules on the hands, feet, and sometimes the forearms. The lesions are typically skin-colored or slightly erythematous and have a tendency to appear during childhood or adolescence. This condition is often confused with plane warts, but it can be distinguished by its genetic nature and its pattern of distribution.

Etiology and Genetics

Acrokeratosis verruciformis is primarily associated with mutations in the ATP2A2 gene, which encodes the SERCA2 calcium pump. This condition is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. However, cases without a known family history have been reported, suggesting the possibility of new mutations or a more complex genetic basis.

Clinical Presentation

Patients with AKV present with multiple, small, flat-topped, wart-like papules. These lesions are most commonly found on the dorsa of the hands and feet but may also extend to the forearms and shins. Unlike common warts, these papules are not caused by the human papillomavirus (HPV) but are instead a manifestation of the genetic mutation affecting skin growth and differentiation.

Diagnosis

The diagnosis of acrokeratosis verruciformis is primarily clinical, based on the characteristic appearance and distribution of the skin lesions. A family history of similar symptoms may support the diagnosis. Dermoscopy can aid in distinguishing AKV from other dermatological conditions. In uncertain cases, a skin biopsy may be performed, showing histopathological features consistent with AKV, such as hyperkeratosis and papillomatosis without evidence of viral inclusions.

Treatment

There is no cure for acrokeratosis verruciformis, and treatment is aimed at managing symptoms and preventing complications. Topical retinoids have been used with some success to reduce hyperkeratosis. In cases where lesions are cosmetically concerning or cause discomfort, procedures such as cryotherapy, laser therapy, or dermabrasion may be considered. It is also important for patients to practice good skin care and sun protection, as there is a potential risk of malignant transformation of AKV lesions into squamous cell carcinoma.

Prognosis

The prognosis for individuals with acrokeratosis verruciformis is generally good, as the condition tends to be benign and stable over time. However, there is a small risk of malignant transformation, emphasizing the importance of regular dermatological follow-up.

See Also

• Genodermatoses
• Keratosis
• Squamous cell carcinoma
• Dermoscopy