Reynolds syndrome is a rare secondary

laminopathy Laminopathies ('' lamino-'' + '' -opathy'') are a group of rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina. They are included in the more generic term ''nuclear envelopathies'' that was coined in 2000 f ...

, consisting of the combination of

primary biliary cirrhosis Primary biliary cholangitis (PBC), previously known as primary biliary cirrhosis, is an autoimmune disease of the liver. It results from a slow, progressive destruction of the small bile ducts of the liver, causing bile and other toxins to build ...

and progressive systemic sclerosis. In some patients this syndrome has also been associated with Sjögren's syndrome and

hemolytic anemia Hemolytic anemia or haemolytic anaemia is a form of anemia due to hemolysis, the abnormal breakdown of red blood cells (RBCs), either in the blood vessels (intravascular hemolysis) or elsewhere in the human body (extravascular). This most commonly ...

. Typical clinical features include

jaundice Jaundice, also known as icterus, is a yellowish or greenish pigmentation of the skin and sclera due to high bilirubin levels. Jaundice in adults is typically a sign indicating the presence of underlying diseases involving abnormal heme met ...

, elevated blood levels of alkaline phosphatase, calcinosis cutis,

telangiectasia Telangiectasias, also known as spider veins, are small dilated blood vessels that can occur near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. These dilated blood vessels can develop anywhere on ...

s, and

pruritus Itch (also known as pruritus) is a sensation that causes the desire or reflex to scratch. Itch has resisted many attempts to be classified as any one type of sensory experience. Itch has many similarities to pain, and while both are unpleasant ...

. This disease may cause white or yellow-ish spots on the arms or legs. The syndrome, a special case of scleroderma, is named after the American physician, Telfer B. Reynolds, MD (1921–2004), who first described it. He is also known for creating one of the world's first

hepatology Hepatology is the branch of medicine that incorporates the study of liver, gallbladder, biliary tree, and pancreas as well as management of their disorders. Although traditionally considered a sub-specialty of gastroenterology, rapid expansion ...

programs at the

University of Southern California , mottoeng = "Let whoever earns the palm bear it" , religious_affiliation = Nonsectarian—historically Methodist , established = , accreditation = WSCUC , type = Private research university , academic_affiliations = , endowment = $8. ...

. It should not be confused with the more common

Raynaud's phenomenon Raynaud syndrome, also known as Raynaud's phenomenon, eponymously named after the physician Auguste Gabriel Maurice Raynaud, who first described it in his doctoral thesis in 1862, is a medical condition in which the spasm of small arteries cau ...

References

* T. B. Reynolds, E. K. Denison, H. D. Frank, F. L. Lieberman, R. L. Peters: Primary biliary cirrhosis with scleroderma, Raynaud's phenomenon and telangiectasia. New syndrome. American Journal of Medicine, New York, 1971, 50 (3): 302–312. * Volker Stadie, Johannes Wohlrab, Wolfgang Christian Marsch: The Reynolds Syndrome - a Rare Combination of Two Autoimmune Diseases. Medizinische Klinik, München, 2002, 97 (1): 40–43.

External links

Autoimmune diseases Digestive diseases Hepatology Rheumatology Syndromes Rare diseases {{disease-stub