This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Reynolds syndrome is an autoimmune disease characterized by the co-occurrence of primary biliary cholangitis (PBC) and limited cutaneous systemic sclerosis (LCSS). The signs and symptoms of Reynolds syndrome therefore include those of both PBC and LCSS. People with PBC may have symptoms such as tiredness (fatigue) and itchy skin (pruritus), as well as an enlarged liver (hepatomegaly). Signs and symptoms of LCSS may include calcium deposits in the skin, tissues, and organs (calcinosis); sores on the fingers and toes (digital ulcers); facial telangiectasias; Raynaud’s phenomenon; esophageal dysfunction (such as acid reflux); and sclerodactyly (tightening of the skin on the fingers and toes). Reynolds syndrome typically occurs sporadically, affecting only one person in a family. Treatment aims to improve the signs and symptoms associated with each disease individually and may involve ursodeoxycholic acid for PBC to slow the progression of liver disease and various medications for the wide variety of possible symptoms of LCSS.
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