Diagnosis of epidermodysplasia verruciformis: Two cases highlighting the role of direct HPV L1 gene sequencing

Bushara, Omar; Miller, Daniel D.; Giubellino, Alessio; Schomaker, Matthew; Thyagarajan, Bharat; Nelson, Andrew C.

doi:10.1111/cup.13444

Cited by 6 publications

(21 citation statements)

References 44 publications

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“…In the research on the pathogenesis of skin diseases, the relationship between EV and HPV infection is mentioned. 24 The article describes EV, this rare lifelong autosomal recessive skin disease, which was recently classified as primary sexual immunodeficiency. 25 It is related to ubiquitous β-HPV infection, but has nothing to do with other pathogens, including skin or genital α-HPV, γ-HPV and other factors.…”

Section: Discussionmentioning

confidence: 99%

HPV infection upregulates the expression of ZNT-1 in condyloma acuminatum

et al. 2021

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Condyloma acuminata (CA) are benign anogenital warts caused by human papillomavirus (HPV) infection with a high recurrence rate. Despite its high contagiousness, high recurrence rate and potential for malignant transformation, effective treatments for CA have not yet been developed. Accordingly, it is necessary to clarify the mechanisms underlying CA development. Zinc (Zn) is stably maintained in the weight of human body. Skin is the third most Zn-abundant tissue in the body. Zn is present as a divalent ion (Zn2+) in cells and does not need a redox reaction upon crossing the cellular membrane. Zn transporters (ZnTs; SLC30A) and Irt-like proteins (ZIPs; SLC39A) are involved in Zn2+ efflux and uptake, respectively. ZnT1 is one of the ZnTs, which associates with the development of HPV. However, the role of ZnT1 regulation in the CA caused by HPV infection remains unknown. A multigroup case-control study was designed to investigate the expression and significance of the ZnT1 in patients with CA infected with HPV and in normal vulva controls. ZnT1 was assessed by immunohistochemistry in 44 patients with CA at Zhongnan Hospital of Wuhan University 2019-2020. Samples were analyzed by paraffin embedding and sectioning and hematoxylin-eosin and immunohistochemical staining. Immunohistochemical methods detected specific, dark brown, positive staining of ZnT1 in the keratinocytes of epidermis. We verified that the expression levels of ZnT1 that interact with HPV were upregulated in the CA groups independently of genotype compared with the control group. And then we found that the HPV risk grade in CA patients has a certain correlation with ZnT1 expression. These findings showed that HPV infection upregulated the expression of ZnT1 in CA. Additionally, there were obvious differences in the expression of ZnT1 between the different HPV risk grade infection groups. The higher the HPV risk grade, the stronger the ZNT1 protein expression. This study provided new insights into the sign pathway to HPV infection.

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Section: Discussionmentioning

confidence: 99%

HPV infection upregulates the expression of ZNT-1 in condyloma acuminatum

et al. 2021

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“…The onset of AEV is variable after immunosuppression; however, most patients develop lesions within 5 years. 2 Patients with AEV present with multiple cutaneous papules that are predominantly present on areas of sun-exposed skin, but have been described on all body surfaces. Although many immunosuppressive medications are implicated, azathioprine has been suggested to be a high-risk drug for the development of AEV.…”

Section: Introductionmentioning

confidence: 99%

“…Although many immunosuppressive medications are implicated, azathioprine has been suggested to be a high-risk drug for the development of AEV. 2 Reports of AEV in kidney transplanted patients are rare with few reports described in worldwide literature. 3 Herein, we describe an additional case of AEV occurring 9 years after renal transplant in the oldest patient to date (Table 1).…”

Section: Introductionmentioning

confidence: 99%

Acquired Epidermodysplasia Verruciformis in the Setting of Renal Transplant

Henning

Weaver

Reedy³

2020

The American Journal of Dermatopathology

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Epidermodysplasia verruciformis (EV) is a rare dermatologic condition that is clinically characterized by flat, cutaneous, verrucous papules, pityriasis versicolor-like lesions, and similar lichenoid papules. There are 2 forms of EV: a classic inherited genodermatosis and a secondary acquired form. EV predisposes individuals to infections with certain types of human papillomavirus virus and subsequently increases the risk of cutaneous squamous cell carcinoma. The acquired form occurs in immunosuppressed patients, particularly in patients infected with HIV; however, it has also been described in patients who have undergone stem cell and solid organ transplantation. We report an additional case of renal transplantation and immunosuppressive therapy-associated acquired EV (AEV) in a 78-year-old man with multiple flesh-colored to violaceous, flattopped papules distributed on the face and trunk clinically mimicking lichen planus. Biopsy was typical for that of EV, demonstrating enlarged keratinocytes with a blue-gray cytoplasm, a thickened granular layer, acanthosis, and hyperkeratosis. Herein, we discuss an unusual presentation of an AEV-mimicking lichen planus with review of the literature.

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“…[13] The histology of EV shows moderate acanthosis in the epidermis, mild hyperkeratosis, bluegray cytoplasm, and prominent keratohvalin granules and characteristic large keratinocytes. [13,14] These scattered or clustered keratinocytes in the granular layer or upper stratum spinosum appear to be swollen with blue-gray foamy cytoplasm. [15] Histopathological findings of blue cells in EV are pathogonomic for HPVinfected keratinocytes and the ''blue'' appearance of these cells can be used as an indicator of EV-related disease.…”

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confidence: 99%

“…[13] These lesions are common and heterogeneous genodermatosis that can develop in the face, extremities, back and all other body parts exposed to the sun. [9,14] Patients may present with verruca plana-like flat wart-like papules located in the sun-exposed areas. Another common appearance is saline-colored, hyperpigmented or hypopigmented macules, papules, or plaques spread on it, similar to tine.…”

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confidence: 99%

Epidermodysplasia Verruciformis

Ün¹

2020

JEB Med Sci

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Epidermodysplasia verruciformis (UV) is an extremely rare skin disease with autosomal recessive inheritance. This disease is because of susceptibility to certain types of human papilloma virus and mutations of two genes named EVER1/ TMC6 and EVER2/TMC8. Epidermodysplasia verruciformis is characterized by various skin lesions, such as flat warts and reddish papules, which have been seen since childhood. There is a high risk of these lesions becoming malignant in the areas exposed to UV radiation in the following years. This transformation, usually seen in the fourth decade of life, is most commonly associated with squamous cell carcinoma. Although various treatment methods have been proposed for this disease so far, there is no definitive treatment.

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Diagnosis of epidermodysplasia verruciformis: Two cases highlighting the role of direct HPV L1 gene sequencing

Cited by 6 publications

References 44 publications

HPV infection upregulates the expression of ZNT-1 in condyloma acuminatum

HPV infection upregulates the expression of ZNT-1 in condyloma acuminatum

Acquired Epidermodysplasia Verruciformis in the Setting of Renal Transplant

Epidermodysplasia Verruciformis

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