Rheumatology Advance Access originally published online on May 25, 2009
Rheumatology 2009 48(7):849-852; doi:10.1093/rheumatology/kep118
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Stiff skin syndrome: evidence for an inflammation-independent fibrosis?
1Department of BioMedicine, Division of Rheumatology and DENOthe Centre, University of Florence, AOUC, Florence, Italy,2Department of Rheumatology, Center of Experimental Rheumatology, University Hospital Zurich, Zurich, Switzerland,3Department of Anatomy, Histology and Forensic Medicine and 4Department of Pediatrics, Rheumatology Unit, A. Meyer Children's Hospital, University of Florence, Florence, Italy.
Correspondence to: Serena Guiducci, Division of Rheumatology, Department of BioMedicine, University of Florence, AOUC, Villa Monna Tessa, Viale Pieraccini 18, 50139 Florence, Italy. E-mail: serena16{at}libero.it
 |
Abstract |
|---|
Objectives. Stiff skin syndrome (SSS) is a rare scleroderma-like syndrome of unknown aetiology. A 16-year-old boy presented with thoracic and abdominal asymmetry, and ‘orange peel’ cutaneous lesions, with fibrotic stone-hard indurations at the buttocks, thighs and arms leading to secondary joint contractures of the extremities. Our aim was to analyse the expression of extracellular matrix (ECM) molecules and pro-fibrotic cytokines in the dermis and epidermis of SSS.
Methods. The diagnosis of SSS was confirmed by clinical and histopathological examination. Collagen type 1 alpha-2 chain (Col1A2), fibronectin-1, thrombospondin-1, TGF-β, connective tissue growth factor (CTGF), IL-6, -1β, ET-1, Fibroblast growth factor receptor 3 (FGFR-3) and MCP-1 expression was analysed in SSS and age- and sex-matched healthy control skin by real-time PCR. VEGF expression was also studied.
Results. Histopathological examination showed flattened dermal papillae, a scarce presence of sub-epidermal microvessels and mild dermal fibrosis, but no inflammatory infiltrates. In the SSS dermis, the expression of IL-1β, -6 and MCP-1 was low, whereas VEGF was intensively expressed. No differences were observed for TGF-β, CTGF and ET-1. In contrast, col1A2, fibronectin-1 and thrombospondin-1 were overexpressed in the SSS dermis.
Conclusion. In our SSS patient, an overexpression of ECM proteins was detected, whereas no inflammatory infiltrates or up-regulation of pro-fibrotic cytokines were found. The data suggest that fibrosis in SSS might be independent from inflammation.
KEY WORDS: Stiff skin syndrome, Fibrosis, Cytokines, Extracellular matrix, Inflammation
*Serena Guiducci and Joerg H. W. Distler equally contributed to this work.
Submitted 18 December 2008;
revised version accepted 14 April 2009.
CiteULike 
Connotea 
Del.icio.us What's this?