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Classification and external resources OMIM 226400 305350 DiseasesDB 31394 eMedicine derm/123

Epidermodysplasia verruciformis (also called Lewandowsky-Lutz dysplasia or Lutz-Lewandowsky epidermodysplasia verruciformis) is an extremely rare autosomal recessive genetic[1] 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.[2] 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,[3] which are found in about 80% of the normal population as asymptomatic infections,[4] although other types may also contribute.[3]

The condition usually has an onset of between the ages of 1–20,[5] but can occasionally present in middle-age.[5] It is named after the physicians who first documented it, Felix Lewandowsky and Wilhelm Lutz.[6] Contents [hide] 1 Genetic cause 2 Diagnosis 3 Treatment 4 Notable cases 5 References 6 Further reading 7 External links //

Genetic cause

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.[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.[7]

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 Oliveria et al. showed that cimetidine was