Dupuytren’s disease (DD) is characterized by myofibroblast-mediated collagen deposition in the palmar fascia and progressive contracture involving the hand and fingers. It is mediated by the dynamic interplay of genetic and environmental factors driven by several key cellular mechanisms. Dupuytren’s disease demonstrates a predominant autosomal dominance inheritance pattern with variable penetrance. The underlying mechanism includes an increase in transforming growth factor-beta (TGF-β)-mediated activation of myofibroblasts through the Wnt/β-catenin signaling pathway. Recent advances in the understanding of the pathophysiology of DD have informed promising strategies to mitigate disease progression, potentially prevent recurrence, and may be applicable for other fibrosis-related diseases. These include several medications as well as fat grafting. However, future studies are warranted prior to widespread clinical application.

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Pathophysiology and Genetic Considerations

  • Conner J. McMains,
  • Alexander R. Graf

摘要

Dupuytren’s disease (DD) is characterized by myofibroblast-mediated collagen deposition in the palmar fascia and progressive contracture involving the hand and fingers. It is mediated by the dynamic interplay of genetic and environmental factors driven by several key cellular mechanisms. Dupuytren’s disease demonstrates a predominant autosomal dominance inheritance pattern with variable penetrance. The underlying mechanism includes an increase in transforming growth factor-beta (TGF-β)-mediated activation of myofibroblasts through the Wnt/β-catenin signaling pathway. Recent advances in the understanding of the pathophysiology of DD have informed promising strategies to mitigate disease progression, potentially prevent recurrence, and may be applicable for other fibrosis-related diseases. These include several medications as well as fat grafting. However, future studies are warranted prior to widespread clinical application.