title: Physiopathogenic investigations in a case of familial stiff-skin syndrome.
abstract: BACKGROUND
  Stiff-skin syndrome (SSS) is a rare cutaneous syndrome characterized by stony-hard skin and limitation of joint mobility. Its cause is still unknown.
  
  
  OBJECTIVE
  Biological investigations were performed in a new case of SSS.
  
  
  METHODS
  Collagen production and DNA biosynthesis were studied from fibroblast culture. Proinflammatory cytokines (TNF-alpha, IL-6 and TGF-beta2) were measured in the patient's serum. Results were compared with pathological findings.
  
  
  RESULTS
  Collagen production and DNA biosynthesis were normal whereas the level of circulating cytokines was high. Histological examination of the skin showed mild fibrosis in the dermis whereas the fascia was not thickened.
  
  
  CONCLUSIONS
  Our clinical and biological findings suggest that in this case, cutaneous changes may be related to an inflammatory process rather than to a primary fibroblast defect or a fascial abnormality as previously hypothesized.
authors.affiliation: Service de Dermatologie, Hôpital Sainte-Marguerite, Marseille, France.
authors.forename: M A
authors.initials: MA
authors.lastname: Richard
authors.forename: J J
authors.initials: JJ
authors.lastname: Grob
authors.forename: N
authors.initials: N
authors.lastname: Philip
authors.forename: J
authors.initials: J
authors.lastname: Rey
authors.forename: A
authors.initials: A
authors.lastname: Chamson
authors.forename: J L
authors.initials: JL
authors.lastname: Mege
authors.forename: L
authors.initials: L
authors.lastname: Andrac
authors.forename: F
authors.initials: F
authors.lastname: Faure
authors.forename: N
authors.initials: N
authors.lastname: Basseres
authors.forename: J J
authors.initials: JJ
authors.lastname: Bonerandi
mesh_terms: D003094:Collagen / Q000096:biosynthesis; D004247:DNA / Q000096:biosynthesis; D005192:Family Health; D017809:Fatal Outcome; D005347:Fibroblasts / Q000166:cytology / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007223:Infant; D015850:Interleukin-6 / Q000097:blood; D008297:Male; D010375:Pedigree; D012871:Skin Diseases / Q000097:blood* / Q000235:genetics / Q000473:pathology*; D013577:Syndrome; D016212:Transforming Growth Factor beta / Q000097:blood; D014409:Tumor Necrosis Factor-alpha / Q000378:metabolism
chemical_list: D015850:Interleukin-6; D016212:Transforming Growth Factor beta; D014409:Tumor Necrosis Factor-alpha; D003094:Collagen; D004247:DNA