- Xanthomatosis
- A condition in which fatty deposits occur in various parts of the body. These fatty deposits are called xanthomas or xanthomata and appear as yellowish firm nodules in the skin. Xanthomas are in themselves a harmless growth of tissue. However, they frequently indicate the presence of underlying diseases such as diabetes and disorders of fats (lipid disorder or hyperlipidemia). Under the microscope, a xanthoma consists of lipid-laden foam cells. These cells, termed histiocytes, contain lipid material in their cytoplasm (the nonnuclear zone of the cell).
* * *Widespread xanthomas, especially on the elbows and knees, that sometimes affect mucous membranes and are sometimes associated with metabolic disturbances. SYN: lipid granulomatosis, lipoid granulomatosis, xanthoma multiplex.- cerebrotendinous x. [MIM*213700] a metabolic disorder associated with deposition of cholestanol and cholesterol in the brain and other tissues; plasma cholestanol level is high but plasma cholesterol level is normal; characterized by progressive cerebellar ataxia beginning after puberty, cataracts, spinal cord involvement, premature atherosclerosis, and tendinous or tuberous xanthomata; due to a defect in hepatic mitochondrial sterol 27-hydroxylase in bile acid biosynthesis; autosomal recessive inheritance, caused by mutation in the gene involved in cytochrome P-450 in the C27 position (CYP27) on chromosome 2q.- chronic idiopathic x. vague or indefinite term for inherited abnormalities of lipid metabolism leading to xanthoma formation ( e.g., primary familial x.).- generalized plane x. widespread x. associated with multiple myeloma, familial hyperlipoproteinemia, or less commonly with primary biliary cirrhosis or no underlying disease.
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xan·tho·ma·to·sis (.)zan-.thō-mə-'tō-səs n, pl -to·ses -.sēz a condition marked by the presence of multiple xanthomas* * *
n.* * *
xan·tho·ma·to·sis (zan″tho-mə-toґsis) any of various conditions characterized by the presence of xanthomas.
Medical dictionary. 2011.
