Epidermodysplasia verruciformis

Epidermodysplasia verruciformis of Lewandowsky-Lutz dysplasie is een erg zeldzame erfelijke ziekte van het afweersysteem, die zich uit in het ontstaan van wratachtige papels(bultjes), voornamelijk op de handen. Deze worden veroorzaakt door infectie met varianten van het humaan papillomavirus (HPV, wratvirus). Op plekken die aan zonlicht zijn blootgesteld ontstaan uit deze wratten huidkanker (plaveiselcelcarcinoom). Dezelfde HPV-varianten komen ook bij gezonde mensen voor, maar geven daar geen afwijkingen, zelfs geen wratten. Epidermodysplasia-verruciformispatiënten kunnen deze HPV-varianten niet goed bestrijden, door een erfelijke stoornis in het afweersysteem.

Genetic cause

The cause of the condition is an inactivating mutation in either the EVER1 or EVER2 genes, which are located adjacent to one another onchromosome 17.^[1] The precise function of these genes is not yet fully understood, but they play a role in regulating the distribution of zinc in the cell nucleus. It has been shown that zinc is a necessary cofactor for many viral proteins, and that the activity of EVER1/EVER2 complex appears to restrict the access of viral proteins to cellular zinc stores, limiting their growth.

Diagnosis

Clinical diagnostic features are lifelong eruption of pityriasis versicolor-like macules, flat wart-like papules and development of cutaneous carcinomas.

Patients present with flat, slightly scaly, red-brown macules on the face, neck and body, or verruca-like papillomatous lesions, seborrheic keratosis-like lesions, and pinkish-red plane papules on the hands, upper and lower extremities, and face. The benign form of EV presents with only flat, wart-like lesions over the body, whereas the malignant form shows a higher rate of polymorphic skin lesions and development of multiple cutaneous tumors.

Generally cutaneous lesions are disseminated over the body, but there are some cases with only a few lesions which are limited to one extremity.^[8][9]

Treatment

A totally effective treatment method against EV has not yet been found. Several treatments have been suggested, and acitretin 0.5–1 mg/day for 6 months’ duration is the most effective treatment owing to antiproliferative and differentiation-inducing effects.

Interferons can also be used effectively together with retinoids.

Cimetidine was reported to be effective because of its depressing mitogen-induced lymphocyte proliferation and Regulatory T cell activity features. A report by Oliveira et al. showed that cimetidine was ineffective. Hayashi et al. applied topical calcipotriol to a patient with a successful result.

As mentioned, various treatment methods are offered against EV; however, most importantly, education of the patient, early diagnosis and excision of the tumoral lesions take preference to prevent the development of cutaneous tumors.