Epidermodysplasia verruciformis (EV) is a rare inherited susceptibility to widespread and persistent infection with specific HPV genotypes giving rise to plane warts, pigmented warts, pityriasis versicolor–like lesions and seborrhoeic keratoses-like lesions. It is inherited as an autosomal recessive trait, though autosomal dominant and X-linked patterns have been reported. The susceptibility for EV was localised to chromosome 17q25 and mutations in EVER1 and EVER2 genes from the same region were identified. There is a failure to mount an effective immune response to the HPV infection hence the recurrence after treatment. The lesions usually develop rapidly in childhood but may first appear at any age. They are most numerous on the face and neck and backs of the hands and feet, and may be restricted to these sites, but there are often scattered lesions elsewhere and the lesions may be generalized over the entire body surface. EV is remarkably persistent and may remain unchanged for decades. However, slow spontaneous regression has been reported. Carcinomas develop mainly in sun-exposed lesions* suggesting that ultraviolet radiation is an important factor. Viral particles can be identified ultrastructurally not only in the spinous cells, but also in basal cells. EV HPV may be required only in early phases of carcinogenesis and therefore may not be found in well-developed cancer. Skin cancers are less common in African patients, suggesting a protective effect of skin pigmentation. EV-like lesions have been observed in the setting of immunosuppression and are sometimes called acquired EV. Remission of EV-like eruptions can occur in HIV infected patients after the commencement of highly active antiretroviral therapy. In addition to the host genetic background, the EV-HPVs are activated by UV exposure and immunosuppression.
Strict sun avoidance and protection should be started as soon as the syndrome is diagnosed. Diligent use of an effective sunscreen should be advised. An approach similar to that for patients with xeroderma pigmentosa can be instituted. No specific treatment exists for EV lesions. Therapy with electrodesiccation, cryotherapy, topical retinoids, and surgery are generally unsatisfactory. Mixed results have been seen with topical 5% imiquimod cream. Many other therapies have been tried e.g. oral retinoids, oral cimetidine and topical vitamin D analogues. Whether dysplastic or malignant change can be prevented by oral retinoids is unknown. If skin grafting is required, the grafts should be taken from sun-protected skin, such as the buttocks or inner upper arm.
*Partridge ME, Pariser RJ. Ocular and cutaneous squamous cell carcinoma in an African American man with epidermodysplasia verruciformis resulting in blindness and death. J Am Acad Dermatol. 2003; 49 (suppl 5): 262 – 264.
|Face involvement - Her grandmother (father's side), her father, and her two sisters and brother had the same condition.|
|Hand involvement - Her grandmother (father's side), her father, and her two sisters and brother had the same condition.|
This page was last updated in September 2014.