Autosomal dominant epidermodysplasia verruciformis: A clinicotherapeutic experience in two cases

Abstract

Epidermodysplasia verruciformis (EV) is a rare genodermatosis characterized by a unique susceptibility to cutaneous infection by a group of phylogenetically related human papilloma viruses (HPVs). These patients show a defect in cell-mediated immunity specific toward the causative HPVs that lead to lifelong disease. The defect is usually inherited as autosomal recessive trait and presents clinically with plane warts, pityriasis versicolor-like lesions and reddish verrucous plaques. Dysplastic and malignant changes in the form of actinic keratoses, Bowen's disease and squamous cell carcinoma (SCC) are common but metastasis occurs rarely. A totally effective treatment against EV is as yet highly desirable. Two siblings having autosomal dominant EV presented with multiple actinic keratoses in addition to classic lesions. One of them had also developed well-differentiated SCC over forehead with metastases to regional lymph nodes. They were treated with combination of excision of small malignant/premalignant lesions, topical 5-flurouracil and sun protection. Additionally, elective excision/grafting of large SCC was performed after chemotherapy/radiotherapy in patient with metastatic SCC. Oral acitretin (25 mg/day) was of benefit in the other patient. Overall clinicotherapeutic experience in both the patients is discussed here.

Epidermodysplasia Verruciformis: A Rare Case Report

“…The familial form of EV is more common, but, in our case, there was no family history of the disease and, hence, we assume that she had a sporadic appearance. However, the autosomal dominant pattern of inheritance had been reported in two cases [ 3 ]. Epidermodysplasia verruciformis can be acquired and is usually seen in immunodeficient patients such as after renal transplantation, in Hodgkin’s disease and systemic lupus erythematosus, and with human immunodeficiency virus (HIV) infection [ 5 ].…”

“…Transformation into malignancy occurs in 35% to 50% of patients around 40 to 50 years of age, more commonly with Bowen’s-type carcinoma in situ followed by invasive squamous cell carcinoma; metastasis is uncommon [ 1 ]. Transformation into skin cancer depends mainly on the oncogenic potential of the infecting virus [ 3 ]. There are more than 30 EV-associated HPV types that have been recognized, including HPV5, HPV8, HPV12, HPV14, HPV15, HPV17, HPV19-HPV25, HPV36, HPV38, HPV47, and HPV50 [ 4 ].…”

“…Pharmacologic treatments include oral and topical retinoids, interferon, immunotherapy, imiquimod, and cimetidine [ 1 ]. Presently, acitretin 0.5-1 mg/day is the drug of choice [ 3 ]. Oral retinoids (0.5 mg/kg) used in two sisters with an autosomal recessive pattern showed that cutaneous lesions decreased in size after a short time but a relapse of the lesions occurred after one year [ 9 ].…”

“…It is characterized by pityriasis versicolor-like macules, flat wart-like lesions, macules, and seborrheic keratosis-like plaques that begin in childhood mainly on the sun-exposed areas of the face, neck, trunk, and extremities [ 1 , 3 ]. There is an increased risk of the malignant transformation of these lesions especially on the sun-exposed areas [ 1 ].…”

Epidermodysplasia verruciformis in a young adult with activated PI3Kδ syndrome

“…It is reported that 60% of EV patients will go on to have cutaneous squamous cell carcinoma at an early age 2, 5. Systemic retinoids have been used with varying success, although recurrence is high when treatment is discontinued 6, 7. One report documents clearance with the Gardasil vaccine in a renal transplant patient 8 .…”