Reynolds syndrome is a rare disease associating primary biliary cirrhosis (PBC) and systemic scleroderma (SSc). Although generally considered as an autoimmune disease owing to the presence of typical autoantibodies and to microscopical abnormalities suggesting autoimmunity (lymphoid infiltrate around the biliary ducts and the cutaneous vessels, pericarditis, pleurisy), other causes have been searched for, especially genetic. The discovery of a new mutation in the Lamin receptor B in a French patient suffering from Reynolds syndrome [1Gaudy-Marqueste C, et al. J Med Genet 2010;47:361–70.

Cliquez ici pour aller à la section Références] revives this controversy. Laminopathies have a great variety of manifestations, but some are quite comparable with either SSc or PBC, and the new mutation has been found neither in a group of 27 other patients with SSc, nor in 400 normal subjects. After bioinformatics searching, the authors claim that it is plausible that the new mutation is pathogenic. It remains to be shown, however, that this is really the case by testing directly the liver and skin fibroblasts of the patient. Moreover, looking at a series of CBP patients and at a larger SSc sample will be enlightening to appreciate the real value of that discovery.