Epidermodysplasia verruciformis

1998-06-01   Claude Viguié  

Identity

Name

Epidermodysplasia verruciformis

Alias

Levandowsky-Lutz syndrome

Inheritance

autosomal recessive in 10 to 20 % of the patients; other cases are sporadic; rare disease.

Omim

226400 , 305350

Mesh

D004819

Orphanet

302 Epidermodysplasia verruciformis

Umls

C0014522

Clinics

Phenotype and clinics

  • age at onset is variable; more frequently: young adults or children
  • two types of elementary cutaneous lesions are observed :
    - persistant papule-like warts, isolated, or confluent with a psoriasic aspect
    - white spots, pityriasis versicolor-like
    both types of lesions are localized mainly on the outer part of the hands, on foreharms, legs, face, trunk and perianal zone.
  • immunodeficiency: decreased immune response of T lymphocytes to mitogens, decreased humoral response to Human Papilloma Virus antigens; EV lesions have been described in renal transplant recipients.
  • various Human Papilloma Virus (HPV) subtypes are regularly detected in the cutaneous lesions: HPV 5, 8, 9, 12, 14, 15, 17, 19, 25, 36, 38, 47, 50.
  • patients are simultaneously affected by differents HPV subtypes, according to disease localisation; these subtypes are different from those observed in common warts (HPV 2, 3, 4, 10).
    • Atlas Image
    Top left: numerous papule-like warts on the skin of an hand; right: other aspect of papule-like warts on one hand; bottom left: basocellular carcinoma of the face developped from epidermodysplasia verruciformis lesions; right: carcinoma of the face developped from epidermodysplasia verruciformis lesions - Courtesy Daniel Wallach

    Neoplastic risk

  • risk of malignant transformation of cutaneous lesions is within a delay of 20 to 30 yrs (very slow process comparable to the genital carcinogenesis associated with high risk HPVs)
  • cytology: squamous cell carcinoma (spinocellular or basocellular carcinoma, Bowen disease).
  • correlation with oncogenic subtypes of HPV found in the transformed lesions: HPV 5, 8, 14; the most frequent subtypes are HPV 5 and 8 (90% of cases).
  • benign familial forms are associated with HPV 3, without malignant evolution.
  • HPV-5 is present in the macular lesions.
  • probable potentialisation by UV ligth: 25 to 30% of malignant lesions localised to the face and forehead (hypothetic role of P53 mutations).
  • protein E6 and\/or E7 (tumor suppressor function) from HPV seem to be involved in the malignant transformation.

    • Treatment

    surgical resection of localized lesions; chemotherapy with Acitretin (25 mg\/j) for multifocal lesions.

    Evolution

    local recidives, enhanced by UV exposition.

    Genes involved and Proteins

    Complementation groups

    genes and proteins are unknown.

    Article Bibliography

    Pubmed IDLast YearTitleAuthors
    95795401998Human papillomaviruses are commonly found in normal skin of immunocompetent hosts.Astori G et al
    95689731998Detection of new human papillomavirus sequences in skin lesions of a renal transplant recipient and characterization of one complete genome related to epidermodysplasia verruciformis-associated types.Bens G et al
    75748491995Toxic epidermal necrolysis in Singapore, 1989 through 1993: incidence and antecedent drug exposure.Chan HL et al
    95409671998Psoriasis: A possible reservoir for human papillomavirus type 5, the virus associated with skin carcinomas of epidermodysplasia verruciformis.Favre M et al
    89802871997Human papillomavirus DNA in non-melanoma skin cancers of a renal transplant recipient: detection of a new sequence related to epidermodysplasia verruciformis associated types.Höpfl R et al
    88791181996E7 proteins of four groups of human papillomaviruses, irrespective of their tissue tropism or cancer association, possess the ability to transactivate transcriptional promoters E2F site dependently.Hiraiwa A et al
    93310781997Skin autografts in epidermodysplasia verruciformis: human papillomavirus-associated cutaneous changes need over 20 years for malignant conversion.Majewski S et al
    93495081997p53 mutations implicate sunlight in post-transplant skin cancer irrespective of human papillomavirus status.McGregor JM et al
    94009791997Regulatory interactions of transcription factor YY1 with control sequences of the E6 promoter of human papillomavirus type 8.Pajunk HS et al
    87676611996[HPV-5 typing with nested PCR and sequencing in epidermodysplasia verruciformis].Schaller J et al
    85235151996E2 represses the late gene promoter of human papillomavirus type 8 at high concentrations by interfering with cellular factors.Stubenrauch F et al