title: Human papillomavirus infection in Netherton's syndrome.
abstract: BACKGROUND
  Netherton's syndrome (NS) is a hereditary disorder with dermatological signs (e.g. ichthyosis) and a complex immunological dysfunction. In immunodeficient individuals human papillomavirus (HPV) types are associated with carcinomas on non-mucosal sites.
  
  
  OBJECTIVE
  To study the presence of HPV infection in different skin lesions of three male NS patients and to investigate a possible association between HPV and malignancies in NS.
  
  
  METHODS
  Patient 1 had extraordinary widespread multiple skin carcinomas on sunlight-exposed areas, as well as common viral warts. Patient 2 showed disseminated viral plane warts that resolved spontaneously, and patient 3 was free of skin lesions suspicious for HPV infection; only pseudoepitheliomatous wart-like lesions as a symptom of ichthyosis were apparent. We performed nested polymerase chain reaction analysis of DNA from benign and malignant skin lesions and HPV-8 serology in these three patients.
  
  
  RESULTS
  Antibodies to HPV-8 were not detectable in our patients; however, seven of 22 (31%) biopsies of the three NS patients were positive for HPV DNA. Epidermodysplasia verruciformis (EV) -associated HPV types and normal cutaneous types (HPV-2, HPV-28) were detected. Interestingly, only the patient with cutaneous carcinomas harboured, preferentially in malignant lesions, EV-HPV types (HPV-19, 23, 38 and HPV-RTRX9, closely related to EV-HPVs), whereas plane warts of patient 2 were positive for HPV-28. The pseudoepitheliomatous skin lesions were HPV-DNA negative in all investigated probes.
  
  
  CONCLUSIONS
  These data in NS patients further confirm an association of EV-HPVs with non-melanoma skin cancer (NMSC) and suggest a possible carcinogenic role similar to that assumed for NMSC in transplant recipients. A complex immunological disorder facilitating EV-HPV infection, negative HPV serology and photochemotherapy may all have contributed to the unusual occurrence of multiple cancers in one of our NS patients.
authors.affiliation: Department of Dermatology and Venereology, University of Innsbruck, Anichstrasse 35, A-6020 Innsbruck, Austria. florian.weber@uibk.ac.at
authors.forename: F
authors.initials: F
authors.lastname: Weber
authors.forename: P G
authors.initials: PG
authors.lastname: Fuchs
authors.forename: H J
authors.initials: HJ
authors.lastname: Pfister
authors.forename: H
authors.initials: H
authors.lastname: Hintner
authors.forename: P
authors.initials: P
authors.lastname: Fritsch
authors.forename: R
authors.initials: R
authors.lastname: Hoepfl
mesh_terms: D000328:Adult; D004279:DNA, Viral / Q000032:analysis; D006801:Humans; D007057:Ichthyosis / Q000150:complications*; D007154:Immune System Diseases / Q000150:complications; D008297:Male; D009894:Opportunistic Infections / Q000150:complications; D027383:Papillomaviridae / Q000145:classification / Q000302:isolation & purification*; D030361:Papillomavirus Infections / Q000150:complications*; D011230:Precancerous Conditions / Q000821:virology; D012878:Skin Neoplasms / Q000821:virology*; D013577:Syndrome; D014412:Tumor Virus Infections / Q000150:complications*
chemical_list: D004279:DNA, Viral