HIV-positive child with epidermodysplasia verruciformis-like lesions and homozygous mutation in TMC6

Burger, Bettina; Kind, Fabiola; Spoerri, I.; Rütten, Arno; Battegay, Manuel; Häusermann, Peter; Itin, Peter; Arnold, Andreas

doi:10.1097/qad.0b013e32833fdfca

Cited by 5 publications

(6 citation statements)

References 12 publications

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“…An interplay between genetic susceptibility and immunosuppression has been suggested as only a small subset of HPV-positive PLWH or otherwise immunocompromised patients develop AEV. 3,7 The pathogenesis is not completely understood and seems to be unrelated to CD4 count and viral load, 2,3 as suggested also by our case. Indeed, cutaneous and mucosal HPV-induced lesions may reveal a specific defect in the immune response to the HPV family not reverted by highly active antiretroviral therapy (HAART)-mediated immune restoration.…”

mentioning

confidence: 58%

Efflorescence of acquired epidermodysplasia verruciformis due to immune reconstitution inflammatory syndrome-like mechanisms following anti-HPV vaccination in a HIV-positive patient

et al. 2021

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Epidermodysplasia verruciformis (EV) is a rare cutaneous pre-cancerous condition characterized by presence of flat, scaly macules, verruca-like papillomatous papules, seborrheic keratosis-like lesions, and pink-red pityriasis versicolor-like macules. The disease is caused by abnormal susceptibility to certain specific beta-HPV subtypes, most commonly 5 and 8. Classic EV is genetically determined, but in immunocompromised individuals, an acquired form can occur. Only 48 cases of acquired EV (AEV) in people living with HIV have been described. We describe a case of AEV in a 36-year-old HIV-positive man with an history of stable optimal CD4 cell count and undetectable HIV viral load. The AEV significantly deteriorated after the administration of the second dose of the quadrivalent anti-HPV vaccine and did not improve despite local treatment, anti-HPV vaccination completion, and persistently optimal combined antiretroviral treatment adherence. To the best of our knowledge, this is the first report of an AEV deterioration with a clinical and temporal pattern mimicking an immune reconstitution inflammatory syndrome (IRIS) following anti-HPV vaccination, instead of low CD4 count restoration. After reviewing the current literature, we have hypothesized a vaccine-mediated IRIS-like phenomenon in the pathogenesis of the disease.

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mentioning

confidence: 58%

Efflorescence of acquired epidermodysplasia verruciformis due to immune reconstitution inflammatory syndrome-like mechanisms following anti-HPV vaccination in a HIV-positive patient

et al. 2021

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“…Acquired EV (aEV) is due to an immunodeficiency secondary to immunosuppressant medications following transplant, infection with HIV, or other diseases such as systemic lupus erythematous, tuberculoid leprosy and Hodgkin lymphoma . The underlying mechanism is believed to be similar to gEV: infected cells are not cleared by the immune system because of defective cell‐mediate immunity, leading first to disseminated hyperkeratotic lesions, and then transformation to SCC and other non‐melanoma skin cancer (NMSC).…”

Section: Introductionmentioning

confidence: 99%

“…The underlying mechanism is believed to be similar to gEV: infected cells are not cleared by the immune system because of defective cell‐mediate immunity, leading first to disseminated hyperkeratotic lesions, and then transformation to SCC and other non‐melanoma skin cancer (NMSC). Although the timing of infection and disease onset in acquired EV is variable after the onset of immunosuppression, approximately 92% of acquired EV patients develop lesions within 5 years . One study has suggested that immunosuppression regimens using azathioprine are potentially higher‐risk for EV‐development than other drug combinations .…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2019

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Epidermodysplasia verruciformis (EV) is a rare skin disease characterized by the development of multiple flat warts with the potential for malignant transformation. Patients are susceptible to human papillomavirus (HPV) infection that develops in a background of either a genetic or acquired immunodeficiency predisposing patients to infection with specific HPV types that are ubiquitous but generally non-pathogenic in healthy individuals. There is no standard clinical methodology for determining the causative HPV from patients with suspected EV. Here, we report the diagnostic workup of two EV cases and describe the use of L1 gene Sanger sequencing as a specific method to accurately identify the causative HPV genotype and confirm the diagnosis of EV. K E Y W O R D SDNA sequence analysis, epidermodysplasia verruciformis, genotype, papillomavirus infections, polymerase chain reaction

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“…The types most frequently implicated are HPV 5 and 8, although many others have also been associated. Most of the cases are associated with mutations in one of the genes located in the long arm of chromosome 17 (EVER1 or TMC6, and EVER2 or TMC8) [24]. These genes code for transmembrane proteins that are fundamentally found in the endoplasmic reticulum and interact with the zinc transporter (ZT1) [23].…”

Section: Epidermodysplasia Verruciformismentioning

confidence: 99%

“…It has been hypothesized that these forms can create minor defects in patients with predisposing genes, and these defects manifest clinically upon immunosuppression [24].…”

Section: Epidermodysplasia Verruciformismentioning

confidence: 99%

Clinical Manifestations of the Human Papillomavirus

Arrabal-Polo¹,

Girón-Prieto²,

JacintoOrgaz-Molina³

et al. 2013

Human Papillomavirus and Related Diseases From Bench to Bedside a Diagnostic and Preventive Perspective

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HIV-positive child with epidermodysplasia verruciformis-like lesions and homozygous mutation in TMC6

Cited by 5 publications

References 12 publications

Efflorescence of acquired epidermodysplasia verruciformis due to immune reconstitution inflammatory syndrome-like mechanisms following anti-HPV vaccination in a HIV-positive patient

Efflorescence of acquired epidermodysplasia verruciformis due to immune reconstitution inflammatory syndrome-like mechanisms following anti-HPV vaccination in a HIV-positive patient

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

Clinical Manifestations of the Human Papillomavirus

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