Acquired epidermodysplasia verruciformis

doi:10.1016/j.jaad.2008.08.035

Journal of the American Academy of Dermatology

Volume 60, Issue 2, February 2009, Pages 315-320

https://doi.org/10.1016/j.jaad.2008.08.035 Get rights and content

Epidermodysplasia verruciformis (EV) is a rare autosomal recessive genodermatosis with an increased susceptibility to specific human papillomavirus (HPV) genotypes. Classically, this viral infection leads to the development of tinea versicolor–like macules on the trunk, neck, arms, and face during childhood, and over time, these lesions can progress to squamous cell carcinoma. More recently, an EV-like syndrome has been described in patients with impaired cell-mediated immunity. We describe two cases of EV-like syndrome in HIV-positive patients, review all previously reported cases of EV in patients with impaired cell-mediated immunity, introduce the term “acquired epidermodysplasia verruciformis” to describe EV developing in the immunocompromised host and examine the limited treatment options for these patients.

Section snippets

Case 1

An inpatient dermatology consult was requested to evaluate white macules on a 22-year-old Hispanic male with congenital HIV hospitalized for progressive dyspnea and pyrexia. The patient reported that his skin findings first appeared at 18 years of age and had remained unchanged and asymptomatic. At the time of consultation, the patient was not taking highly active antiretroviral therapy (HAART) and had a CD4 count of 83 cells per microliter (normal range, >500 cells/μL) and a viral load of

Case 2

A 32-year-old African American HIV-positive male with acne vulgaris, pruritus of HIV, common warts, and condyloma acuminatum presented with a 4-month history of numerous flat-topped papules on his trunk. The patient was compliant on HAART therapy with a CD4 count of 253 cells per microliter and viral load of less than 50 copies per milliliter at the time of presentation. He was treated with narrowband ultraviolet B (NBUVB) light phototherapy for the previous 14 months for pruritus and topical

Discussion

The pathogenesis of congenital EV remains unknown. In 2002, families with EV were found to have missense mutations in the EVER1/TMC6 or EVER2/TMC8 genes on chromosome 17q25. These genes encode a cytoplasmic protein that colocalizes with calnexin, an integral membrane protein in the endoplasmic reticulum.² However, the function of these proteins has yet to be elucidated. It has been hypothesized that the mutations down-regulate cell-mediated immunity by decreasing the ability of cells to present

Conclusion

With the prolonged survival of immunosuppressed patients and increased clinical awareness, we expect the incidence of AEV to continue to rise. There is currently no definitive treatment for the congenital or acquired forms of EV, and the risk of progression to malignancy in the immunosuppressed patient remains unknown, although likely. Therefore, as dermatologists, we must be diligent in performing regular full body skin exams on these patients and have a low threshold for biopsy and treatment

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HIV infection alters the skin microbiome and predisposes to a wide range of cutaneous infections, from atypical presentations of common skin infections to severe disseminated infections involving the skin that are AIDS-defining illnesses. Bacterial infection of the skin, most commonly caused by Staphylococcus aureus, occurs frequently and can result in bacteremia. Nontuberculous mycobacterial infections that are usually localized to the skin may disseminate, and guidance on the treatment of these infections is limited. Herpes simplex can be severe, and less common presentations such as herpetic sycosis and herpes vegetans have been reported. Severe herpes zoster, including disseminated infection, requires intravenous antiviral treatment. Viral warts can be particularly difficult to treat, and in atypical or treatment-resistant cases a biopsy should be considered. Superficial candidosis occurs very commonly in people living with HIV, and antifungal resistance is an increasing problem in non-albicans Candida species. Systemic infections carry a poor prognosis. In tropical settings the endemic mycoses including histoplasmosis are a problem for people living with HIV, and opportunistic infections can affect those with advanced HIV in all parts of the world. Most cutaneous infections can develop or worsen as a result of immune reconstitution in the weeks to months after starting antiretroviral therapy. Direct microscopic examination of clinical material can facilitate rapid diagnosis and treatment initiation, although culture is important to provide microbiological confirmation and guide treatment.
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Citation Excerpt :
Sometimes they coalesce to form wart-like papillomatous lesions.1 Classically, EV was thought to be a purely genetic condition until Rogers et al2 coined the term “acquired EV” reporting the development of EV in immunocompromised patients. This landmark publication led to an influx of reports of similar cases; more than two-thirds of the publications about acquired EV came after this report, as documented by Limmer et al.3 Significant interest in understanding the etiology and pathogenesis of this condition stems not only from the psychosocial impact of EV on patients but also from patients’ increased susceptibility to develop nonmelanoma skin cancers, especially squamous cell carcinoma.
Eyelid squamous cell carcinoma in the setting of epidermodysplasia verruciformis (EV) diagnosed by next-generation sequencing: A case report and literature review
2022, Advances in Ophthalmology Practice and Research
We describe a 41-year-old Asian male who presented with a left upper eyelid mass for one year associated with multiple pigmented maculopapules on his face, who was found to have Epidermodysplasia verruciformis (EV). The ophthalmic examination was unremarkable. The patient spontaneously started to have disseminated, bean-sized, pinkish flat papules on his forehead since childhood and had history of multiple non-melanoma skin carcinoma. He had been treated as possible xeroderma pigmentosum (XP) by dermatologists. The oculoplastic surgeon resected the lesion and submitted tissue for histopathological and genetic analysis. Eyelid biopsy was consistent with a squamous cell carcinoma (SCC). Next-generation Sequencing (Sanger sequencing) suggested the homozygous mutation of TMC8 gene which is indicative of EV. Our case is a rare report in eyelid SCC in the setting of EV. This patient highlights the importance of considering systemic genodermatosis rather than individual eyelid malignancy and the function of molecular diagnosis in clinical challenge case.
Common presentations and diagnostic approaches
2020, Stiehm's Immune Deficiencies: Inborn Errors of Immunity
Primary immune deficiencies are a heterogeneous group of inherited disorders generally caused by specific gene mutations affecting the immune system and leading to various clinical manifestations, including severe infections, autoimmunity, and malignancies. In this chapter, general considerations on primary immune deficiency as well as the various circumstances in which a primary immune deficiency is evoked are described. This chapter serves as a roadmap to understand the layout of this book and it mirrors the clinical approach taken by immunologists.

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: Conflicts of interest: None declared.

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Case reportAcquired epidermodysplasia verruciformis

Section snippets

Case 1

Case 2

Discussion

Conclusion

J Invest Dermatol

Lancet

J Am Acad Dermatol

Clin Dermatol

J Invest Dermatol

J Am Acad Dermatol

J Am Acad Dermatol

Ein Fall einer bisher nicht beschriebenen Hauterkrankung

Arch Dermatol Syphilol

Mutations in two adjacent novel genes are associated with EV

Nat Genet

Clinical observations, virologic studies, treatment trials in patients with epidermodysplasia verruciformis, a disease induced by specific human papillomaviruses

J Invest Dermatol

Epidermodysplasia verruciformis

Epidermodysplasia verruciformis-associated papillomavirus infection complicating human immunodeficiency virus disease

Br J Dermatol

Epidermodysplasia verruciformis-like eruption complicating human immunodeficiency virus infection

Br J Dermatol

Epidermodysplasia verruciformis in a patient with Hodgkin's disease

J Invest Dermatol

Case report
Acquired epidermodysplasia verruciformis