Dupuytren’s disease is a benign fibroproliferative disease of unknown aetiology. It is often familial and commonly affects Northern European Caucasian men, but genetic studies have yet to identify the relevant genes. Transforming growth factor beta one (TGF-β1) is a multifunctional cytokine which plays a central role in wound healing and fibrosis. It stimulates the proliferation of fibroblasts and the deposition of extracellular matrix. Previous studies have implicated TGF-β1 in Dupuytren’s disease, suggesting that it may represent a candidate susceptibility gene for this condition. We have investigated the association of four common single nucleotide polymorphisms in TGF-β1 with the risk of developing Dupuytren’s disease. A polymerase chain reaction-restriction fragment length polymorphism method was used for genotyping TGF-β1 polymorphisms. DNA samples from 135 patients with Dupuytren’s disease and 200 control subjects were examined. There was no statistically significant difference in TGF-β1 genotype or allele frequency distributions between the patients and controls for the codons 10, 25, −509 and −800 polymorphisms. Our observations suggest that common TGF-β1 polymorphisms are not associated with a risk of developing Dupuytren’s disease. These data should be interpreted with caution since the lack of association was shown in only one series of patients with only known, common polymorphisms of TGF-β1. To our knowledge, this is the first report of a case-control association study in Dupuytren’s disease using single nucleotide polymorphisms in TGF-β1.
A vascular necrosis of the lunate, first described by Kienböck, can be treated either conservatively or by various surgical procedures. We compared the results of 18 conservatively treated patients, all of whom had stage-2 or stage-3 disease, with those of 15 who underwent a radial shortening procedure. We evaluated pain, range of movement, grip strength and functional disability, and determined the progression of the disease by assessing radiologically carpal height, the width and flattening of the lunate, the radioscaphoid angle, the pattern of the fracture and sclerosis and cysts. The mean follow-up was for 3.6 years (1.5 to 9). Patients treated by radial shortening had less pain and better grip strength than those managed conservatively. In some patients with stage-3 disease treated conservatively there was rapid deterioration to carpal collapse. Although radial shortening did not reverse or prevent carpal collapse, it slowed down the process in patients with stage-3 disease. We recommend a radial shortening procedure for patients with severe pain and radiological signs of progressive carpal collapse.
