Scleroderma

Telangiectatases are knot-like clusters of blood vessels on the skin which can occur in 30 to 50 per cent of patients with Systemic Sclerosis, also known as Scleroderma. Telangiectases tend to occur on the face, neck, and upper limbs and can cause psychological issues for patients.

Currently, doctors use laser treatment to blast the telangiectases and destroy them but this treatment can be painful at the time and result in bruising afterwards

According to the first large population-based cohort study of its kind, patients with Systemic Sclerosis or Scleroderma were found to be at a greater than eightfold increased risk of having an acute myocardial infarction (MI) during their first year after diagnosis. After that first year however, the risk drops off over time.

Still, during the five years post diagnosis the MI risk remains more than three times that of the matched general population, Dr. J. Antonio Avina-Zubieta reported at the annual meeting of the American College of Rheumatology. "Our findings support increased vigilance in cardiovascular disease prevention, surveillance, and risk modification in patients with systemic sclerosis," declared Dr. Avina-Zubieta, a rheumatologist at the University of British Columbia, Vancouver.

The Scleroderma Research Foundation has reported that researchers at The Johns Hopkins University have discovered that some cases of Scleroderma are likely to have been initiated by Cancer.  In a landmark paper published in Science, researchers focusing on a select group of patients with both Scleroderma and Cancer, discovered that the patients' immune response to a mutated protein in their tumors resulted in autoimmunity once the immune response spread to the non-mutated form of the protein. This major insight into the origins of autoimmunity in Scleroderma may also have ramifications for other autoimmune diseases.

Using mice, lab-grown cells and clues from a related disorder, Johns Hopkins researchers have greatly increased understanding of the causes of Systemic Sclerosis, showing that a critical culprit is a defect in the way certain cells communicate with their structural scaffolding. They say the new insights point the way toward potentially developing drugs for the disease.

"Until now we've had little insight and no effective treatment strategies for Systemic Sclerosis, and many patients die within a year of diagnosis," says Hal Dietz, the Victor A. McKusick Professor of Genetics and Medicine in the Institute of Genetic Medicine and director of the Smilow Center for Marfan Syndrome Research at Johns Hopkins. "Our group created mouse models that allowed us to learn about the sequence of events that leads to the disease's symptoms, and we hope drugs can be developed that target one or more of these events." The Dietz team's results are described in the Oct. 10 issue of Nature.