Epidermodysplasia verruciformis

Synonyms

2

Overview

Epidermodysplasia verruciformis (also called Lewandowsky-Lutz dysplasia), colloquially known as tree man illness is an extremely rare autosomal recessive genetic hereditary skin disorder associated with a high risk of carcinoma of the skin. It is characterized by abnormal susceptibility to human papillomaviruses (HPVs) of the skin. The resulting uncontrolled HPV infections result in the growth of scaly macules and papules, particularly on the hands and feet. It is typically associated with HPV types 5 and 8, which are found in about 80 percent of the normal population as asymptomatic infections, although other types may also contribute.

The condition usually has an onset of between the ages of 1–20, but can occasionally present in middle-age. It is named after the physicians who first documented it, Felix Lewandowsky and Wilhelm Lutz.

Symptoms

It is characterized by abnormal susceptibility to human papillomaviruses (HPVs) of the skin. The resulting uncontrolled HPV infections result in the growth of scaly macules and papules, particularly on the hands and feet. It is typically associated with HPV types 5 and 8 which are found in about 80% of the normal population as asymptomatic infections, although other types may also contribute.

Causes

The cause of the condition is an inactivating mutation in either the EVER1 or EVER2 genes, which are located on adjacent to one another on chromosome 17. 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 eruptions 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, recurring especially around the penial area, 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 spread over the body, but there are some cases with only a few lesions which are limited to one extremity.

Treatment

No serious treatment against EV has been found yet. 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 important, education of the patient, early diagnosis and excision of the tumoral lesions take preference to prevent the development of cutaneous tumors.