Reynolds syndrome

Definition:

Reynolds syndrome is a rare disease associating primary biliary cirrhosis (PBC) and systemic scleroderma (SSc). It is typically classified as an autoimmune disorder since there are specific autoantibodies associated with both facets of the disease (antimitochondrial antibodies for PBC and anticentromere/antitopoisomerase for SSc), and suggestive microscopical abnormalities in the skin and liver. A mutation in the Lamin B receptor gene has been discovered in the white blood cells, suggesting that nuclear signalling defects could be a cause in Reynolds syndrome.

References:

[1]. Caroline Gaudy-Marqueste, et al. LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome. J Med Genet. 2010 Jun;47(6):361-70. [Content Brief]

[2]. J Cabane, et al. Is Reynolds syndrome a genetic laminopathy?. Gastroenterol Clin Biol. 2010 Oct;34(10):509-10. [Content Brief]

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