title: Trichodysplasia spinulosa is characterized by active polyomavirus infection.
abstract: BACKGROUND
  Recently a new polyomavirus was identified in a patient with trichodysplasia spinulosa (TS), a rare follicular skin disease of immunocompromised patients characterized by facial spines and overgrowth of inner root sheath cells. Seroepidemiological studies indicate that TSPyV is ubiquitous and latently infects 70% of the healthy individuals.
  
  
  OBJECTIVE
  To corroborate the relationship between active TSPyV infection and TS disease by analyzing the presence, load, and precise localization of TSPyV infection in TS patients and in controls.
  
  
  METHODS
  TS lesional and non-lesional skin samples were retrieved from TS patients through a PubMed search. Samples were analyzed for the presence and load of TSPyV DNA with quantitative PCR, and for expression and localization of viral protein with immunofluorescence. Findings obtained in TS patients (n=11) were compared to those obtained in healthy controls (n=249).
  
  
  RESULTS
  TSPyV DNA detection was significantly associated with disease (P<0.001), with 100% positivity of the lesional and 2% of the control samples. Quantification revealed high TSPyV DNA loads in the lesional samples (∼10(6)copies/cell), and low viral loads in the occasionally TSPyV-positive non-lesional and control samples (<10(2)copies/cell). TSPyV VP1 protein expression was detected only in lesional TS samples, restricted to the nuclei of inner root sheath cells over-expressing trichohyalin.
  
  
  CONCLUSIONS
  The high prevalence and load of TSPyV DNA only in TS lesions, and the abundant expression of TSPyV protein in the affected hair follicle cells demonstrate a tight relation between TSPyV infection and TS disease, and indicate involvement of active TSPyV infection in TS pathogenesis.
authors.affiliation: Department of Medical Microbiology, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Siamaque
authors.initials: S
authors.lastname: Kazem
authors.forename: Els
authors.initials: E
authors.lastname: van der Meijden
authors.forename: Sander
authors.initials: S
authors.lastname: Kooijman
authors.forename: Arlene S
authors.initials: AS
authors.lastname: Rosenberg
authors.forename: Lauren C
authors.initials: LC
authors.lastname: Hughey
authors.forename: John C
authors.initials: JC
authors.lastname: Browning
authors.forename: Genevieve
authors.initials: G
authors.lastname: Sadler
authors.forename: Klaus
authors.initials: K
authors.lastname: Busam
authors.forename: Elena
authors.initials: E
authors.lastname: Pope
authors.forename: Taylor
authors.initials: T
authors.lastname: Benoit
authors.forename: Philip
authors.initials: P
authors.lastname: Fleckman
authors.forename: Esther
authors.initials: E
authors.lastname: de Vries
authors.forename: Just A
authors.initials: JA
authors.lastname: Eekhof
authors.forename: Mariet C W
authors.initials: MC
authors.lastname: Feltkamp
mesh_terms: D000293:Adolescent; D000328:Adult; D036022:Capsid Proteins / Q000737:chemistry; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002843:Chromatin / Q000737:chemistry; D004279:DNA, Viral / Q000302:isolation & purification; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D007381:Intermediate Filament Proteins / Q000737:chemistry; D008297:Male; D008875:Middle Aged; D011120:Polyomavirus / Q000302:isolation & purification*; D027601:Polyomavirus Infections / Q000378:metabolism / Q000473:pathology / Q000821:virology*; D012867:Skin / Q000737:chemistry / Q000473:pathology / Q000821:virology; D017193:Skin Diseases, Viral / Q000378:metabolism / Q000473:pathology / Q000821:virology*; D014412:Tumor Virus Infections / Q000378:metabolism / Q000473:pathology / Q000821:virology*; D019562:Viral Load
chemical_list: D036022:Capsid Proteins; D002843:Chromatin; D004279:DNA, Viral; D007381:Intermediate Filament Proteins; C062481:VP1 protein, polyomavirus; C016159:trichohyalin