title: Differential glycosaminoglycan expression and hyaluronan homeostasis in juvenile hyaline fibromatosis.
abstract: BACKGROUND
  Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disease characterized histologically by deposition of hyaline material and clinically by multiple skin lesions. Clarification of the molecular and structural changes involved in JHF skin lesions may unravel targets for pharmacotherapy.
  
  
  OBJECTIVE
  We sought to investigate the expression of glycosaminoglycans and their metabolizing enzymes in lesional as compared with lesion-free skin tissue specimens in JHF.
  
  
  METHODS
  Glycosaminoglycans were isolated, purified, and fractionated by electrophoresis on cellulose acetate membranes and agarose gels. Hyaluronic acid (HA) was quantitated by enzyme-linked immunosorbent assay and the expression of HA metabolizing enzymes was investigated using reverse transcriptase-polypeptide chain reaction.
  
  
  RESULTS
  JHF lesions exhibited significantly less HA and elevated amounts of dermatan sulfate and chondroitin sulfate, whereas gene expression of HA synthase-1 and HA synthase-3 was significantly down-regulated, as compared with lesion-free skin tissue specimens.
  
  
  CONCLUSIONS
  Because JHF is a rare disease, a limitation to our study was that we collected skin tissue specimens from only one patient.
  
  
  CONCLUSIONS
  The significant alterations of HA homeostasis in JHF lesions provide further understanding of JHF pathogenesis and may offer a target for pharmacologic intervention to treat the skin lesions associated with JHF.
authors: Second Department of Pharmacology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors: Thrasivoulos G
authors: TG
authors: Tzellos
authors: Alexander
authors: A
authors: Dionyssopoulos
authors: Ioannis
authors: I
authors: Klagas
authors: George
authors: G
authors: Karakiulakis
authors: Lambis
authors: L
authors: Lazaridis
authors: Eleni
authors: E
authors: Papakonstantinou
mesh_terms: D001706:Biopsy; D002648:Child; D002809:Chondroitin Sulfates / Q000378:metabolism*; D003871:Dermatan Sulfate / Q000378:metabolism*; D015536:Down-Regulation / Q000502:physiology; D004587:Electrophoresis, Agar Gel; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005260:Female; D005350:Fibroma / Q000378:metabolism* / Q000473:pathology; D014453:Glucuronosyltransferase / Q000235:genetics; D006706:Homeostasis / Q000502:physiology*; D006801:Humans; D018960:Hyaluronan Receptors / Q000235:genetics; D000076002:Hyaluronan Synthases; D006820:Hyaluronic Acid / Q000378:metabolism*; D012867:Skin / Q000378:metabolism / Q000473:pathology; D012878:Skin Neoplasms / Q000378:metabolism* / Q000473:pathology
chemical_list: C497483:CD44 protein, human; D016326:Extracellular Matrix Proteins; D018960:Hyaluronan Receptors; C098946:hyaluronan-mediated motility receptor; D003871:Dermatan Sulfate; D006820:Hyaluronic Acid; D002809:Chondroitin Sulfates; D014453:Glucuronosyltransferase; D000076002:Hyaluronan Synthases