|Year : 2017 | Volume
| Issue : 4 | Page : 335-337
A sporadic case of epidermodysplasia verruciformis in a young boy
Rita V Vora, Rahulkrishna Sureshkumar Kota, Rochit R Singhal, Shailee S Gandhi
Department of Dermatology, Shree Krishna Hospital, Pramukhswami Medical College, Anand, Gujarat, India
|Date of Web Publication||29-Sep-2017|
Rita V Vora
Skin OPD, Room Number 111, Shree Krishna Hospital, Pramukhswami Medical College, Karamsad, Anand, Gujarat - 388 325, Gujarat
Source of Support: None, Conflict of Interest: None
Epidermodysplasia verruciformis (EV) is a rare disorder that is usually transmitted in an autosomal recessive manner, caused by human papillomavirus which presents with tinea versicolor-like or flat wart-like lesions. It has propensity for malignant transformation, especially squamous cell carcinoma. Here, we present a case of 7 year boy with complaints of asymptomatic hypopigmented macular lesions over the face, neck, and forearms. Histopathology was suggestive of EV and was given oral zinc, advised strict photoprotection.
Keywords: Autosomal recessive, epidermodysplasia verruciformis, human papillomavirus
|How to cite this article:|
Vora RV, Kota RS, Singhal RR, Gandhi SS. A sporadic case of epidermodysplasia verruciformis in a young boy. Indian J Paediatr Dermatol 2017;18:335-7
|How to cite this URL:|
Vora RV, Kota RS, Singhal RR, Gandhi SS. A sporadic case of epidermodysplasia verruciformis in a young boy. Indian J Paediatr Dermatol [serial online] 2017 [cited 2019 Oct 16];18:335-7. Available from: http://www.ijpd.in/text.asp?2017/18/4/335/206083
| Introduction|| |
Epidermodysplasia verruciformis (EV) is an uncommon cutaneous disorder characterized by persistent infection with beta-human papillomavirus (HPV) and a combination of flat wart-like lesions, pityriasis versicolor-like lesions, hypopigmented macules, or other erratic skin lesions. These lesions are mainly located on the face, neck, and extremities. EV is most commonly inherited in an autosomal recessive manner although sporadic, sex-linked, and autosomal dominant inheritance has been described. It has a potential for malignant transformation, especially squamous cell carcinoma.
| Case Report|| |
A 7 years boy came to the skin outpatient department with complaints of asymptomatic lesions over the forehead for 2 years, which were gradually increasing in number and spread to the neck and forearms. There were no similar complaints in the past or in the family. There were no other systemic complaints. On examination, multiple hypopigmented maculopapular lesions, few of them coalescing to form patches, were present over the forehead [Figure 1]a, retroauricular region [Figure 1]b, face [Figure 2]a and [Figure 2]b, neck, and forearms. Scalp, oral cavity, genitals, and nails were normal. Systemic examination was unremarkable. A punch biopsy was taken from the lesion over the right forearm which showed hyperkeratotic (basket-weave hyperkeratosis) and acanthotic epidermis. The vacuolated cells are present in the upper malpighian and granular layer [Figure 3]a. The keratinocytes have abundant basophilic cytoplasm. The nuclei are large, round, and empty with the presence of keratohyaline granules [Figure 3]b. Above features were suggestive of EV. The patient was advised strict photoprotection, started on oral zinc, topical 0.025% retinoic acid over the lesions, and was advised regular follow-up.
|Figure 1: (a) Multiple hypopigmented macules and papules coalescing to form patches over the forehead. (b) Multiple hypopigmented papules over the right retroauricular area|
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|Figure 2: Multiple hypopigmented popular lesions over (a) left side of the face (b) right side of the face|
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|Figure 3: (a) Hyperkeratotic and acanthotic epidermis with the vacuolated cells in the upper malpighian and granular layer (H and E, ×10). (b) Basket-weave hyperkeratosis with the vacuolated cells is present in the upper malpighian and granular layer. Keratinocytes have abundant basophilic cytoplasm. The nuclei are large, round, and empty with the presence of keratohyaline granules is seen (H and E, ×40)|
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| Discussion|| |
There are more than 100 types of HPV. EV-associated HPVs can be divided into two groups, one with high oncogenic potential such as types 5, 8, and 47 which are seen in more than 90% of EV-associated skin cancers while the other group has low oncogenic potential such as types 14, 20, 21, and 25 usually seen with benign skin lesions. Very high oncogenic strains of HPV selectively express the E6, E7 portions of the viral genome, which code major oncoproteins and cause failure of programed cell death, resulting in transformation of the normal human keratinocytes into malignant cells. Simultaneous presence of more than one type of HPV can be seen in the same patient.
Deficiency in cell-mediated immunity, genetic susceptibility to HPV-EV results in a natural inhibition of cytotoxic mechanisms against infection by HPV keratinocytes, leading to the development of skin lesions in classical EV. Immune status of the patient, viral phenotype, and sun exposure influences progression and evolution of skin lesions to malignancy, particularly squamous cell carcinoma. EV-enhancing region 1 (EVER 1) and EVER 2 which belong to transmembrane channel-like gene family are located on chromosome 17q25. Intracellular zinc homeostasis is regulated by a complex of EVER proteins, and zinc transporter proteins play a role in inhibiting EV-HPV expression. Mutations in these genes contribute to HPV-associated EV. Important carcinogenic cofactors include ultraviolet (UV) B and X-rays. There are some reports of acquired EV associated with immunosuppression states such as renal transplantation, graft-versus-host disease, systemic lupus erythematosus, and HIV infection.
EV occurs in all races, without sex predilection and is most common during childhood, puberty with age of onset between 5 and 8 years. It can present with three types of lesions, pityriasis versicolor-like, verruca plana-like, seborrheic keratosis-like, in isolation or in combination. Initially, the lesions are localized, hypochromic scaly patches on the face and neck, similar to tinea versicolor. Over time, they increase in number and tend to evolve to papules resembling flat warts from pink to brownish, sized a few millimeters, with a smooth surface. Subsequently, they extend to the dorsum of the hands, forearms, knees, legs, and feet. Mucous membranes are not affected. The clinical course is protracted. As the disease progresses, some lesions disappear, while new lesions may appear on other areas of the body. Malignant transformation is common in people with skin types 1 and 2 and less common in Africans, suggesting a protective effect of skin pigmentation. Transformation of EV lesions into SCC occurs in 30%–70% cases and may require over 20 years for such conversion. Actinic damage is perhaps the pathogenic mechanism involved in malignant transformation of lesions over extremities and forehead. Bowenoid lesions developing over body parts not directly exposed to sun-like vulva, periungual skin are attributed due to physical trauma.
EV should be suspected in a setting of numerous verrucous lesions recalcitrant to appropriate therapy. Biopsy is performed for early detection of premalignant and malignant lesions and for the identification of EV-associated HPVs. EV has pathognomonic histological features. The keratin layer is loose with a basket-weave-like appearance. The most characteristic findings are the presence of clear cells in the granular and spinous layers with occasional enlarged, hyperchromatic, atypical nuclei. The nucleoplasm is clear, and keratohyaline granules of various sizes and shapes are present. In premalignant tumors, the normal keratinocyte maturation is preserved, while in the malignant lesions, the normal surface maturation of keratinocytes is lost. The premalignant lesions display features similar to actinic keratoses with prominent atypical, dyskeratotic cells.
Currently, there is no specific or effective treatment for EV. Management includes preventive measures such as genetic counseling, photoprotection, and monitoring of symptoms for proper identification of premalignant and malignant lesions. Sunscreens are recommended to avoid direct exposure to UV radiation since constant exposure tends to increase the risk of malignancy. Oral zinc, due to its immunomodulatory effects, had been used by many authors either alone as well as in combination therapy. Nonsurgical approaches include topical imiquimod, 5-fluorouracil, Vitamin D3, cimetidine, systemic retinoids, and interferon. Surgical and electrosurgical removal and cryotherapy are used in the treatment of benign and premalignant lesions. Surgery is also indicated for the treatment of malignant lesions. For localized multiple malignant lesions, autotransplantation of the skin from uninvolved skin has been reported with success. Few consider acitretin 0.5–1 mg/day the drug of choice currently. These patients should undergo lifetime monitoring due the high risk of developing premalignant and malignant lesions.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]