Epidermodysplasia verruciformis

Epidermodysplasia verruciformis is a rare form of genodermatosis, associated with chronic HPV infection, which results in polymorphic skin lesions and increases the risk of skin cancer. The disease manifests to 7.5% in infancy, 61.5% in childhood and 22% in puberty.

The appearance varies from hyper- or hypopigmented wart-like flat papules over reddish-brown, irregular plaques and seborrheic keratosis-like lesions to pityriasis versicolor-like spots. They are located on the back of the foot and the back of the hand, on the face, neck and trunk.

The HPV types in the lesions are different, but HPV5 and HPV8 were found in 80% of the cases.

Another problem is the development of non-melanomatous cutaneous malignancies, especially squamous cell carcinomas, which occur in up to 60% of cases in patients 4 years and 5 years old.

The cause is due to the mutation of two adjacent genes, EVER1 / TMC6 or EVER2 / TMC8 at locus 17q25.3. The genes encode membrane proteins which are responsible for the formation of the endoplasmic reticulum of the keratinocyte complexes with the zinc transporter protein ZnT-1 in the membrane. The consequence of these mutations is susceptibility to infections with specific HPV subtypes of the genus Beta HPV5, 8, 9, 12, 14, 15, 17, 19-25, 36-38, 47 and 49.

The inheritance is autosomal recessive, but it has also been reported by autosomal dominant courses.