title: Pseudosyndactyly - an inflammatory and fibrotic wound healing disorder in recessive dystrophic epidermolysis bullosa.
abstract: BACKGROUND
  A genetic blistering skin disease, recessive dystrophic epidermolysis bullosa (RDEB), is marked by severe wound healing defects and finger contractures. The purpose of this investigation was to elucidate the mechanisms of impaired wound healing and pseudosyndactyly occurring in RDEB patients by studying the role of known inflammation and fibrosis markers in RDEB pseudosyndactyly tissue.
  
  
  METHODS
  We studied the expression of the fibrosis and/or inflammation markers tenascin-C, α-smooth muscle actin, transforming growth factor-β1, interleukin-1β, and interleukin-6 in scarring and nonscarring tissue from healthy donors and RDEB patients by semiquantitative real time-PCR and, where applicable, by immunoblots. Furthermore, the distribution pattern of α-smooth muscle actin and tenascin-C were assessed by immunofluorescence microscopy.
  
  
  RESULTS
  Based on mRNA and protein analysis, we found upregulation of tenascin-C, interleukin-1β, and interleukin-6 - but not of transforming growth factor-β1 - in recessive dystrophic epidermolysis bullosa scar samples taken from pseudosyndactyly hands. Unexpectedly, α-smooth muscle actin was not upregulated.
  
  
  CONCLUSIONS
  Our results confirm inflammation and fibrosis in recessive dystrophic epidermolysis bullosa, especially in scars, suggesting major roles for these processes in pseudosyndactyly. Our data therefore suggests the potential use of antiinflammatory and antifibrotic drugs in the prevention of pseudosyndactyly.
authors.affiliation: Cluster Rheumatology, Balneology and Rehabilitation, Vienna, Austria.
authors.forename: Jenny
authors.initials: J
authors.lastname: Breitenbach
authors.affiliation: Research Program for Molecular Therapy of Genodermatoses, EB House Austria, Department of Dermatology, University Hospital of the Paracelsus Medical University, Salzburg, Austria.
authors.forename: Christina
authors.initials: C
authors.lastname: Gruber
authors.affiliation: Research Program for Molecular Therapy of Genodermatoses, EB House Austria, Department of Dermatology, University Hospital of the Paracelsus Medical University, Salzburg, Austria.
authors.forename: Alfred
authors.initials: A
authors.lastname: Klausegger
authors.affiliation: Department of Ophthalmology and Optometry, Research program for Ophthalmology and Glaucoma Research, Paracelsus Medical University, Salzburg, Austria.
authors.forename: Andrea
authors.initials: A
authors.lastname: Trost
authors.affiliation: Department of Ophthalmology and Optometry, Research program for Ophthalmology and Glaucoma Research, Paracelsus Medical University, Salzburg, Austria.
authors.forename: Barbara
authors.initials: B
authors.lastname: Bogner
authors.affiliation: Department of Ophthalmology and Optometry, Research program for Ophthalmology and Glaucoma Research, Paracelsus Medical University, Salzburg, Austria.
authors.forename: Herbert
authors.initials: H
authors.lastname: Reitsamer
authors.affiliation: Research Program for Molecular Therapy of Genodermatoses, EB House Austria, Department of Dermatology, University Hospital of the Paracelsus Medical University, Salzburg, Austria.
authors.forename: Johann W
authors.initials: JW
authors.lastname: Bauer
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016207:Cytokines / Q000276:immunology; D003872:Dermatitis / Q000276:immunology* / Q000473:pathology; D016108:Epidermolysis Bullosa Dystrophica / Q000276:immunology* / Q000473:pathology; D005260:Female; D005355:Fibrosis / Q000276:immunology / Q000473:pathology; D006227:Hand Deformities, Acquired / Q000276:immunology*; D006801:Humans; D007155:Immunologic Factors / Q000276:immunology; D008297:Male; D008875:Middle Aged; D012867:Skin / Q000276:immunology* / Q000473:pathology*; D014945:Wound Healing / Q000276:immunology*; D055815:Young Adult
chemical_list: D016207:Cytokines; D007155:Immunologic Factors