Epidermodysplasia verruciformis and human papilloma virus

Current Opinion in Infectious Diseases

Volumn 21, Issue 2, 2008, Pages 141-146

  Gewirtzman, Aron ^a,c   Bartlett, Brenda ^a   Tyring, Stephen ^a,b  

^a UNIVERSITY OF TEXAS   (United States)

^b University of Texas Health Science Center at Houston   (United States)

^c CENTER FOR CLINICAL STUDIES   (United States)

Author keywords

Cutaneous oncogenesis; Epidermodysplasia verruciformis; Epidermodysplasia verruciformis human papillomavirus

Indexed keywords

ALPHA2A INTERFERON; AMINOLEVULINIC ACID; CIDOFOVIR; CIMETIDINE; ETRETIN; ETRETINATE; IMIQUIMOD; PEGINTERFERON ALPHA2B; TACALCITOL;

ABSENCE OF SIDE EFFECTS; BURNING SENSATION; CARCINOGENESIS; COMBINATION CHEMOTHERAPY; DISEASE ASSOCIATION; DRUG WITHDRAWAL; DRY LIP; EPIDERMODYSPLASIA VERRUCIFORMIS; GENE LOCUS; GENE MAPPING; GENETIC SUSCEPTIBILITY; HUMAN; PROTEIN FUNCTION; REVIEW; SKIN CANCER; WART VIRUS; XEROSTOMIA;

ADJUVANTS, IMMUNOLOGIC; ALPHAPAPILLOMAVIRUS; ANTIVIRAL AGENTS; EPIDERMODYSPLASIA VERRUCIFORMIS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; PAPILLOMAVIRUS INFECTIONS; SKIN NEOPLASMS;

EID: 43149118766     PISSN: 09517375     EISSN: None     Source Type: Journal    
DOI: 10.1097/QCO.0b013e3282f486c9     Document Type: Review

References (58)

1. Lewandowsky F, Lutz W. A case of a previously undescribed skin disease (epidermodysplasia verruciformis) [in German]. Arch Dermatol Syphilol 1922; 141:193-203.
2. de Oliveira WR, Festa Neto C, Rady PL, Tyring SK. Clinical aspects of epidermodysplasia verruciformis. J Eur Acad Dermatol Venereol 2003; 17:394-398.
3. Segura S, Carrera C, Ferrando J, et al. Dermoscopy in epidermodysplasia verruciformis. Dermatol Surg 2006; 32:103-106. Although the scope of the present review did not permit discussion of dermoscopy in epidermodysplasia verruciformis, this is the only published article describing dermoscopic findings in epidermodysplasia verruciformis correlated with histopatology.
4. Lane JE, Bowman PH, Cohen DJ. Epidermodysplasia verruciformis. South Med J 2003; 96:613-615.
5. Oliveira WR, Rady PL, Festa C, et al. Skin cancer in epidermodysplasia verruciformis patients from Brazil. J Eur Acad Dermatol Venereol 2006; 20:1154-1156.
6. Ramoz N, Rueda LA, Bouadjar B, et al. Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. Nat Genet 2002; 32:579-581.
7. Ramoz N, Taieb A, Rueda LA, et al. Evidence for a nonallelic heterogeneity of epidermodysplasia verruciformis with two susceptibility loci mapped to chromosome regions 2p21-p24 and 17q25. J Invest Dermatol 2000; 114:1148-1153.
8. Lutzner MA. Epidermodysplasia verruciformis. An autosomal recessive disease characterized by viral warts and skin cancer. A model for viral oncogenesis. Bull Cancer 1978; 65:169-182.
9. Sehgal VN, Luthra A, Bajaj P. Epidermodysplasia verruciformis: 14 members of a pedigree with an intriguing squamous cell carcinoma transformation. Int J Dermatol 2002; 41:500-503.
10. Androphy EJ, Dvoretzky I, Lowy DR. X-linked inheritance of epidermodysplasia verruciformis. Genetic and virologic studies of a kindred. Arch Dermatol 1985; 121:864-868.
11. Orth G. Genetics of epidermodysplasia verruciformis: insights into host defense against papillomaviruses. Semin Immunol 2006; 18:362-374. This thorough review highlights the known genetic basis of epidermodysplasia verruciformis, describes the EVER proteins, and hypothesizes their function as restriction factors for EV-HPV. It discusses epidermodysplasia verruciformis as both a genodermatosis and as a primary immunodeficiency disease.
12. Akgul B, Cooke JC, Storey A. HPV-associated skin disease. J Pathol 2006; 208:165-175. This article features the most comprehensive description of the link between HPV, ultraviolet radiation, and NMSC. It outlines the role for HPV infection as a co-carcinogen with ultraviolet in NMSC development.
13. Aochi S, Nakanishi G, Suzuki N, et al. A novel homozygous mutation of the EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis. Br J Dermatol 2007; 157:1265-1266. While reporting a new homozygous transition mutation in the EVER1 gene in a Japanese epidermodysplasia verruciformis patient, the authors summarize mutations discovered to date. All mutations have been isolated findings, with no accumulation of specific mutation sites.
14. Gober MD, Rady PL, He Q, et al. Novel homozygous frameshift mutation of EVER1 gene in an epidermodysplasia verruciformis patient. J Invest Dermatol 2007; 127:817-820. In addition to reporting a novel frameshift mutation of the EVER1 gene in an epidermodysplasia verruciformis patient, this study reports the presence of the mutated allele in heterozygous form in the patient's consanguineous parents. The role of genetic counseling is also discussed.
15. Rady PL, De Oliveira WR, He Q, et al. Novel homozygous nonsense TMC8 mutation detected in patients with epidermodysplasia verruciformis from a Brazilian family. Br J Dermatol 2007; 157:831-833. The authors report a novel nonsense TMC8 mutation in three patients with epidermodysplasia verruciformis from a Brazilian family. They discuss the ethnicities of patients in whom previous mutations have been found and provides further evidence for possible pan-ethnic presence of TMC gene mutations in epidermodysplasia verruciformis patients.
16. Sun XK, Chen JF, Xu AE. A homozygous nonsense mutation in the EVER2 gene leads to epidermodysplasia verruciformis. Clin Exp Dermatol 2005; 30:573-574.
17. Tate G, Suzuki T, Kishimoto K, Mitsuya T. Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis. J Hum Genet 2004; 49:223-225.
18. Zuo YG, Ma D, Zhang Y, et al. Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis. J Dermatol Sci 2006; 44:153-159. This paper reports one of several novel mutations and genetic polymorphisms of the EVER1 gene, lending further support to the hypothesis that EVER1 and EVER2 are at the molecular basis of epidermodysplasia verruciformis.
19. Akgül B, Kose O, Safali M, et al. A distinct variant of epidermodysplasia verruciformis in a Turkish family lacking EVER1 and EVER2 mutations. J Dermatol Sci 2007; 46:214-216. This paper provides an important reminder that not all epidermodysplasia verruciformis cases are associated with EVER1 and EVER2 mutations. It highlights the probable involvement of other genetic loci in the disease as well.
20. + T-cell lymphocytopenia and lack of EVER mutations in a patient with clinically and virologically typical epidermodysplasia verruciformis. Arch Dermatol 2005; 141:1323-1325.
21. Majewski S, Jablonska S. Do epidermodysplasia verruciformis human papillomaviruses contribute to malignant and benign epidermal proliferations? Arch Dermatol 2002; 138:649-654.
22. Orth G. Epidermodysplasia verruciformis. In: Salzman NP, Howley PM, editors. The papovaviridae: the papillomaviruses. New York, New York, USA: Plenum Publishing Corp; 1987. pp. 199-235.
23. Sterling JC. Human papillomaviruses and skin cancer. J Clin Virol 2005; 32 (Suppl 1):S67-S71.
24. Feltkamp MC, Broer R, di Summa FM, et al. Seroreactivity to epidermodysplasia verruciformis-related human papillomavirus types is associated with nonmelanoma skin cancer. Cancer Res 2003; 63:2695-2700.
25. Forslund O, Lindelof B, Hradil E, et al. High prevalence of cutaneous human papillomavirus DNA on the top of skin tumors but not in 'Stripped' biopsies from the same tumors. J Invest Dermatol 2004; 123:388-394.
26. Orth G. Human papillomaviruses associated with epidermodysplasia verruciformis in nonmelanoma skin cancers: guilty or innocent? J Invest Dermatol 2005; 125:xii-xii10.
27. Majewski S, Jablonska S. Current views on the role of human papillomaviruses in cutaneous oncogenesis. Int J Dermatol 2006; 45:192-196. This report clearly describes both sides of the controversy surrounding the role of HPV in cutaneous oncogenesis. It discusses the causative role of HPV versus contamination theory in great detail.
28. Pfister H, Fuchs PG, Majewski S, et al. High prevalence of epidermodysplasia verruciformis-associated human papillomavirus DNA in actinic keratoses of the immunocompetent population. Arch Dermatol Res 2003; 295:273-279.
29. Weissenborn SJ, Nindl I, Purdie K, et al. Human papillomavirus-DNA loads in actinic keratoses exceed those in nonmelanoma skin cancers. J Invest Dermatol 2005; 125:93-97.
30. de Oliveira WR, He Q, Rady PL, et al. HPV typing in Brazilian patients with epidermodysplasia verruciformis: high prevalence of EV-HPV 25. J Cutan Med Surg 2004; 8:110-115.
31. Termorshuizen F, Feltkamp MC, Struijk L, et al. Sunlight exposure and (sero)prevalence of epidermodysplasia verruciformis-associated human papillomavirus. J Invest Dermatol 2004; 122:1456-1462.
32. Majewski S, Jablonska S. Possible involvement of epidermodysplasia verruciformis human papillomaviruses in the immunopathogenesis of psoriasis: a proposed hypothesis. Exp Dermatol 2003; 12:721-728.
33. Weissenborn SJ, Hopfl R, Weber F, et al. High prevalence of a variety of epidermodysplasia verruciformis-associated human papillomaviruses in psoriatic skin of patients treated or not treated with PUVA. J Invest Dermatol 1999; 113:122-126.
34. Favre M, Orth G, Majewski S, et al. Psoriasis: a possible reservoir for human papillomavirus type 5, the virus associated with skin carcinomas of epidermodysplasia verruciformis. J Invest Dermatol 1998; 110:311-317.
35. Nair RP, Henseler T, Jenisch S, et al. Evidence for two psoriasis susceptibility loci (HLA and 17q) and two novel candidate regions (16q and 20p) by genome-wide scan. Hum Mol Genet 1997; 6:1349-1356.
36. Tomfohrde J, Silverman A, Barnes R, et al. Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q. Science 1994; 264:1141-1145.
37. Mahé E, Bodemer C, Descamps V, et al. High frequency of detection of human papillomaviruses associated with epidermodysplasia verruciformis in children with psoriasis. Br J Dermatol 2003; 149:819-825.
38. Alpsoy E, Ciftcioglu MA, Keser I, et al. Epidermodysplasia verruciformis associated with neurofibromatosis type 1: coincidental association or model for understanding the underlying mechanism of the disease? Br J Dermatol 2002; 146:503-507.
39. Lee SH, Rose BR, Thompson CH, Cossart YE. A novel human papillomavirus DNA sequence related to epidermodysplasia verruciformis-associated types isolated from recurrent scar carcinoma. Arch Dermatol 1999; 135:727-728.
40. Ozyazgan I, Kontas O, Gokahmetoglu S, Ozkul Y. An epidermoid carcinoma case developed on old surgical scar in an epidermodysplasia verruciformis patient. J Eur Acad Dermatol Venereol 2005; 19:640-642.
41. Li YH, Chen G, Dong XP, Chen HD. Detection of epidermodysplasia verruciformis-associated human papillomavirus DNA in nongenital seborrhoeic keratosis. Br J Dermatol 2004; 151:1060-1065.
42. Davison SC, Francis N, McLean K, Bunker CB. Epidermodysplasia verruciformis-like eruption associated with HIV infection. Clin Exp Dermatol 2004; 29:311-312.
43. Haas N, Fuchs PG, Hermes B, Henz BM. Remission of epidermodysplasia verruciformis-like skin eruption after highly active antiretroviral therapy in a human immunodeficiency virus-positive patient. Br J Dermatol 2001; 145:669-670.
44. Hu W, Nuovo G, Willen M, Somach S. Epidermodysplasia verruciformis in two half brothers with HIV infection. J Cutan Med Surg 2004; 8:357-360.
45. Kunishige JH, Hymes SR, Madkan V, et al. Epidermodysplasia verruciformis in the setting of graft-versus-host disease. J Am Acad Dermatol 2007; 57 (5 Suppl):S78-S80. This report describes a rare case of epidermodysplasia verruciformis in the setting of graft-versus-host disease. The article discusses the incidence of epidermodysplasia verruciformis in immunocompromised patients as well as the presence of EV-HPV in patients without epidermodysplasia verruciformis. It suggests that epidermodysplasia verruciformis-like lesions in immunocompromised individuals may be linked to epidermodysplasia verruciformis-related haplotypes, as compared with the alternative viewpoint that patients colonized with EV-HPV can manifest with lesions after prolonged immunosuppression.
46. de Villiers EM, Lavergne D, McLaren K, Benton EC. Prevailing papillomavirus types in nonmelanoma carcinomas of the skin in renal allograft recipients. Int J Cancer 1997; 73:356-361.
47. Harwood CA, Surentheran T, McGregor JM, et al. Human papillomavirus infection and nonmelanoma skin cancer in immunosuppressed and immunocompetent individuals. J Med Virol 2000; 61:289-297.
48. Anadolu R, Oskay T, Erdem C, et al. Treatment of epidermodysplasia verruciformis with a combination of acitretin and interferon alfa-2a. J Am Acad Dermatol 2001; 45:296-299.
49. Iraji F, Faghihi G. Epidermodysplasia verruciformis: association with isolated IgM deficiency and response to treatment with acitretin. Clin Exp Dermatol 2000; 25:41-43.
50. Gubinelli E, Posteraro P, Cocuroccia B, Girolomoni G. Epidermodysplasia verruciformis with multiple mucosal carcinomas treated with pegylated interferon alfa and acitretin. J Dermatolog Treat 2003; 14:184-188.
51. Hayashi J, Matsui C, Mitsuishi T, et al. Treatment of localized epidermodysplasia verruciformis with tacalcitol ointment. Int J Dermatol 2002; 41:817-820.
52. Berthelot C, Dickerson MC, Rady P, et al. Treatment of a patient with epidermodysplasia verruciformis carrying a novel EVER2 mutation with imiquimod. J Am Acad Dermatol 2007; 56:882-886. In addition to discussing potentially helpful treatment modalities, this article also points out treatments that can be detrimental. It reinforces the need to avoid radiotherapy in epidermodysplasia verruciformis patients because of the propensity to develop further SCCs.
53. Baskan EB, Tunali S, Adim SB, et al. A case of epidermodysplasia verruciformis associated with squamous cell carcinoma and Bowen's disease: a therapeutic challenge. J Dermatolog Treat 2006; 17:179-183. This is the first reported use of interferons combined with imiquimod for treatment of epidermodysplasia verruciformis lesions. Of the recently attempted treatments for epidermodysplasia verruciformis associated lesions, this combination proved to be both safe and effective, and (at least in the case reported) with a high degree of compliance.
54. Micali G, Nasca MR, Dall'Oglio F, Musumeci ML. Cimetidine therapy for epidermodysplasia verruciformis. J Am Acad Dermatol 2003; 48 (2 Suppl):S9-10.
55. de Oliveira WR, Neto CF, Rivitti EA. The lack of a clinical effect of cimetidine in the treatment of epidermodysplasia verruciformis. J Am Acad Dermatol 2004; 50:e14.
56. Karrer S, Szeimies RM, Abels C, et al. Epidermodysplasia verruciformis treated using topical 5-aminolaevulinic acid photodynamic therapy. Br J Dermatol 1999; 140:935-938.
57. Preiser W, Kapur N, Snoeck R, et al. No apparent effect of cidofovir in epidermodysplasia verruciformis. J Clin Virol 2000; 16:55-57.
58. Carre D, Dompmartin A, Verdon R, et al. Epidermodysplasia verruciformis in a patient with HIV infection: no response to highly active antiretroviral therapy. Int J Dermatol 2003; 42:296-300.