Epidermodysplasia verruciformis

Epidermodysplasia verruciformis (also Lewandowsky -Lutz dysplasia or Lutz- Lewandowsky epidermodysplasia verruciformis ) is an extremely rare autosomal recessive genodermatosis ( hereditary skin disease), which is associated with a high risk of skin cancer. In this case, there is an unusually high susceptibility of the skin to human papillomavirus ( HPV). The resulting uncontrolled HPV infections have a growth of scaly macules and papules especially on the hands and feet result. These are above all the HPV types 5 and 8, which are present in about 80 % of the population asymptomatic disease ( " asymptomatic "), but also other types of HPV have been involved.

The disease usually occurs in age from 1 to 20 years, but may also occasionally manifest in middle age. It is named by the two doctors who first described it, Felix Lewandowsky and Wilhelm Lutz.

For inquiries about the example of papillomavirus EV received Stefania Jablonska and Gerard Orth 1985 Robert Koch Prize.

Genetic cause

The cause of the disease is a mutation which inactivates the gene product of either EVER1 ( TMC6 ie transmembrane channel- like protein 6) or of EVER2 ( TMC8 ie transmembrane channel- like protein 8); both genes are adjacent on chromosome 17 The exact function of these genes is not yet fully elucidated, but they play a role in the regulation of zinc in the cell nucleus. It has been shown that zinc is a necessary co-factor for many viral proteins and that the biological activity of the transcription products of EVER1/EVER2 reduce the availability of zinc for foreign proteins (ie, viral proteins), and thus can prevent viral growth and spread of the viruses.

Diagnosis

In clinical diagnosis, the disease is manifested by pityriasis versicolor -like spots, flat warty papules and by carcinoma of the skin. Patients present with flat, slightly scaly, red - brown spots on the face, neck and body, or wart-like lesions as papillomas or seborrheic keratosis and pink - red papules on the hands, upper and lower extremities and face. Generally, the lesions are spread over the whole body, but there are some cases in just a few changes are limited to an extremity.

Benign ( dhgutartige ) form of epidermodysplasia verruciformis seen only by flat, wart-like lesions on the body, while the malignant ( ie malignant) form is characterized by a higher rate of polymorphic skin lesions and the development of various types of skin cancer.

Therapy

A long-term successful therapy for epidermodysplasia verruciformis it does not exist yet. Also important is early diagnosis and treatment in addition to medication, the patient must learn to deal with his illness. In most cases, tumoral lesions are surgically removed to prevent the development of skin cancer.

Various treatments have been proposed, and the gift of the retinoid acitretin keratolytic ( 0.5-1 mg / day for six months) is currently the most effective treatment. Also interferons - together with retinoids - are intended to provide a treatment success. The effect of cimetidine is controversial: it has been reported that it was effective because of its effect to suppress mitogen- induced lymphocyte growth. A report by Oliveira et al. however, suggests that cimetidine has no effect. Hayashi et al. achieved positive results in a patient by superficial application of calcipotriol.