title: Two sisters reveal autosomal recessive inheritance of epidermodysplasia verruciformis: a case report.
abstract: BACKGROUND
  Epidermodysplasia verruciformis is a rare genodermatosis characterized by a unique susceptibility to cutaneous human papillomaviruses infection. Most patients show autosomal recessive patterns of inheritance.
  
  
  METHODS
  We report a case of two sisters with clinically epidermodysplasia verruciformis specific lesions on the face, neck, trunk, and extremities. PCR analysis indicated the presence of human papillomavirus type 5 in the lesions. Electron microscopic examination showed viral-like particles in keratinocyte nuclei and the stratum corneum of the epidermodysplasia verruciformis lesions. In addition, we examined the EVER1 and EVER2 genes using eight different primer pairs without finding any nonsense or frameshift mutations in the gDNA from lymphocytes of the elder sister.
  
  
  CONCLUSIONS
  In this report, the patient's parents did not have epidermodysplasia verruciformis lesions or a consanguineous marriage. EV did not develop in the elder sister until five years of age, so the parents did not perceive EV as an inherited disease. The probability that EV developed in both sisters was only 6.25%. Thus, it is rare for both sisters to develop epidermodysplasia verruciformis lesions considering that the parents were presumed to be carriers and the disease reveal an autosomal recessive pattern of inheritance.
authors.forename: Rui
authors.initials: R
authors.lastname: Yoshida
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Kato
authors.forename: Masahiko
authors.initials: M
authors.lastname: Kawase
authors.forename: Mariko
authors.initials: M
authors.lastname: Honda
authors.affiliation: Department of Dermatology, Tokyo Women's Medical University Yachiyo Medical Center, 477-96, Ohwada-Shinden, Yachiyo 276-8524, Chiba, Japan. tmitsu@tymc.twmu.ac.jp.
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Mitsuishi
mesh_terms: D000328:Adult; D052685:Alphapapillomavirus / Q000302:isolation & purification; D000634:Aminoquinolines / Q000627:therapeutic use; D000998:Antiviral Agents / Q000627:therapeutic use; D004819:Epidermodysplasia Verruciformis / Q000188:drug therapy / Q000235:genetics* / Q000821:virology; D005260:Female; D005472:Fluorouracil / Q000627:therapeutic use; D005808:Genes, Recessive; D006801:Humans; D000077271:Imiquimod; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D035781:Siblings; D014771:Virion / Q000302:isolation & purification; D055815:Young Adult
chemical_list: D000634:Aminoquinolines; D000998:Antiviral Agents; D008565:Membrane Proteins; C470314:TMC6 protein, human; C470315:TMC8 protein, human; D000077271:Imiquimod; D005472:Fluorouracil