Fax +41 61 306 12 34 E-Mail karger@karger.ch www.karger.com Clinical and Laboratory Studies Dermatology 864 DOI: 10.1159/000XXXXXX Epidermodysplasia Verruciformis in a HIV-Positive Patient Homozygous for the c917A ] T Polymorphism in the TMC8/EVER2 Gene E. Hohenstein a P.L. Rady e M. Hergersberg b A.R. Huber b S.K. Tyring e T. Bregenzer c M. Streit a P. Itin a, d a Department of Dermatology, b Center for Laboratory Medicine, and c Department of Infectiology, Kantonsspital Aarau, Aarau, and d Department of Dermatology, University Hospital Basel, Basel, Switzerland; e Department of Dermatology, University of Texas Health Science Center, Houston, Tex., USA typical EV lesions. The patient is homozygous for an A to T single nucleotide polymorphism (SNP) at position 917 of the TMC8/EVER2 gene. The mother of the patient is heterozy- gous for this SNP. Conclusion: These results support the hy- pothesis that the combination of immunodeficiency and a susceptibility allele may contribute to the differences in oc- currence of EV in HIV-positive patients. Copyright © 2008 S. Karger AG, Basel Introduction Epidermodysplasia verruciformis (EV) was first de- scribed in 1922 by the Basel dermatologists Felix Lewan- dowsky and Wilhelm Lutz [1]. The disease is a general- ized human papilloma virus (HPV) infection, resulting from a genetically determined susceptibility of the skin to infection with particular types of HPV [2]. The 118 hu- man papillomavirus genotypes are distributed across 5 genera [3]. The genus -HPV comprises at least 25 HPV types, which are considered responsible for cutaneous manifestations of epidermodysplasia verruciformis [3, 4]. Worldwide, HPV5 is the most commonly found HPV genotype, although most EV patients are carriers of sev- eral types of HPV [4] . HPV5 and HPV8 have oncogenic potential, especially in the presence of cofactors such as Key Words HIV infection  Human papilloma virus infection  Epidermodysplasia verruciformis  Pathogenesis  EVER gene  Mutation  Heterozygous  Homozygous Abstract Background: Epidermodysplasia verruciformis (EV) is a rare autosomal-recessive disorder characterized by widespread and persistent infection with human papilloma virus (HPV) and a risk of malignant degeneration. Most cases of EV are caused by mutations in the two EV genes, EVER1/TMC6 and EVER2/TMC8. The clinical presentation of EV takes two differ- ent forms, which coexist in most cases. Over a period of years, patients develop planar warts and pityriasis versicol- or-like lesions. Sixteen cases of EV in HIV-positive patients have been clinically investigated and reported in the litera- ture. However, different inherited susceptibilities towards HPV infection in immunodeficient patients, like HIV-positive patients, have only rarely been addressed. Observation: We describe a 22-year-old female patient with a congenital HIV infection, who presented with slowly progressing and confluent erythematous papules on her hands and hypopig- mented macules on her extremities. The histopathology was typical for EV, and HPV5 was detected by PCR and reverse hybridization. The 44-year-old HIV-positive mother has no Received: June 12, 2008 Accepted: July 21, 2008 Published online: $$$ Peter Itin Department of Dermatology, University Hospital Basel Petersgraben 4 CH–4031 Basel (Switzerland) Tel. +41 61 265 4084, Fax +41 61 265 4200, E-Mail pitin@uhbs.ch © 2008 S. Karger AG, Basel 1018–8665/08/0000–0000$24.50/0 Accessible online at: www.karger.com/drm DRM864.indd 1 DRM864.indd 1 27.10.2008 15:41:08 27.10.2008 15:41:08