Treatment of a patient with epidermodysplasia verruciformis carrying a novel EVER2 mutation with imiquimod

doi:10.1016/j.jaad.2007.01.036

Journal of the American Academy of Dermatology

Volume 56, Issue 5, May 2007, Pages 882-886

https://doi.org/10.1016/j.jaad.2007.01.036 Get rights and content

Epidermodysplasia verruciformis (EV) is a rare disorder characterized by widespread human papillomavirus infection and malignant transformation. EV may be caused by mutations of the genes EVER1 or EVER2, which are located on the EV1 locus, 17q25. We describe a patient with EV and a novel homozygous gene mutation of EVER2 gene who was treated successfully with topical imiquimod.

Section snippets

Case report

A 22-year-old Hispanic man had a 10-year history of flat warts on the face, chest, and extremities and a 6-month history of a rapidly growing mass on the mid upper aspect of his chest. The patient had worked as a painter for 5 years and spent the majority of his time outdoors. He denied previous radiation or chemical exposure other than paint and chemicals associated with his job. There was no family history of similar skin lesions or skin cancer. His parents were nonconsanguineous and grew up

Discussion

EV is a rare autosomal recessive HPV-associated genodermatosis characterized by development of disseminated flat warts and widespread pityriasis versicolor-like and seborrheic keratosis-like plaques that start in early childhood on the back of hands, extremities, and face and spread to involve larger areas.¹ A pseudo-Koebner's phenomenon is frequently observed in affected patients, with multiple flat warts appearing in excoriated areas as a result of inoculation of HPV. It is usually regarded

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Persistent human papillomavirus infection (PHPVI) causes cutaneous, anogenital, and mucosal warts. Cutaneous warts include common warts, Treeman syndrome, and epidermodysplasia verruciformis, among others. Although more reports of monogenic predisposition to PHPVI have been published with the development of genomic technologies, genetic testing is rarely incorporated into clinical assessments. To encourage broader molecular testing, we compiled a list of the various monogenic etiologies of PHPVI.
We conducted a systematic literature review to determine the genetic, immunological, and clinical characteristics of patients with PHPVI.
The inclusion criteria were met by 261 of 40,687 articles. In 842 patients, 83 PHPVI-associated genes were identified, including 42, 6, and 35 genes with strong, moderate, and weak evidence for causality, respectively. Autosomal recessive inheritance predominated (69%). PHPVI onset age was 10.8 ± 8.6 years, with an interquartile range of 5 to 14 years. GATA2, IL2RG, DOCK8, CXCR4, TMC6, TMC8, and CIB1 are the most frequently reported PHPVI-associated genes with strong causality. Most genes (74 out of 83) belong to a catalog of 485 inborn errors of immunity-related genes, and 40 genes (54%) are represented in the nonsyndromic and syndromic combined immunodeficiency categories.
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Dr Berthelot is currently affiliated with the Department of Internal Medicine, University of Texas Health Science Center at Houston.

Funding sources: None.

Disclosure: Drs Tyring and Pandya are consultants, are clinical researchers, and serve on the speakers' bureau for 3M Pharmaceuticals, maker of imiquimod. Drs Berthelot, Dickerson, Rady, He, and Niroomand have no conflicts of interest to declare.

Presented in poster form at the American Academy of Dermatology 65th Annual Meeting, Washington, DC, February 2-6, 2007.

Reprints not available from the authors.

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Case ReportTreatment of a patient with epidermodysplasia verruciformis carrying a novel EVER2 mutation with imiquimod

Section snippets

Case report

Discussion

Trends Mol Med

J Am Acad Dermatol

J Am Acad Dermatol

J Clin Virol

Epidermodysplasia verruciformis

South Med J

Nomenclature for the description of human sequence variations

Hum Genet

Ein Fall einer bisher nicht beschriebenen Hauterkrankungn (Epidermodysplasia verruciformis)

Arch Dermatol Syphilol

Nested PCR approach for detection and typing of epidermodysplasia verruciformis-associated human papillomavirus types in cutaneous cancers from renal transplant recipients

J Clin Microbiol

Epidermodysplasia verruciformis defines a subset of cutaneous human papillomaviruses

J Virol

Case Report
Treatment of a patient with epidermodysplasia verruciformis carrying a novel EVER2 mutation with imiquimod