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Xanthoma
A xanthoma (pl. xanthomas or xanthomata) (condition: xanthomatosis) is a deposition of yellowish cholesterol-rich material that can appear anywhere in the body in various disease states. They are cutaneous manifestations of lipidosis in which lipids accumulate in large foam cells within the skin. They are associated with hyperlipidemias, both primary and secondary types. Tendon xanthomas are associated with type II hyperlipidemia, chronic biliary tract obstruction, primary biliary cirrhosis, sitosterolemia and the rare metabolic disease cerebrotendineous xanthomatosis. Palmar xanthomata and tuberoeruptive xanthomata (over knees and elbows) occur in type III hyperlipidemia. Etymology The term xanthoma stems from Greek ξανθός (xanthós) 'yellow', and -ωμα -oma, a suffix forming nouns indicating a mass or tumor. Types Xanthelasma A xanthelasma is a sharply demarcated yellowish collection of cholesterol underneath the skin, usually on or around the eyelids. Strictly, ...
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Xanthoma Tuberosum
A xanthoma (pl. xanthomas or xanthomata) (condition: xanthomatosis) is a deposition of yellowish cholesterol-rich material that can appear anywhere in the body in various disease states. They are cutaneous manifestations of lipidosis in which lipids accumulate in large foam cells within the skin. They are associated with hyperlipidemias, both primary and secondary types. Tendon xanthomas are associated with type II hyperlipidemia, chronic biliary tract obstruction, primary biliary cirrhosis, sitosterolemia and the rare metabolic disease cerebrotendineous xanthomatosis. Palmar xanthomata and tuberoeruptive xanthomata (over knees and elbows) occur in type III hyperlipidemia. Etymology The term xanthoma stems from Greek ξανθός (xanthós) 'yellow', and -ωμα -oma, a suffix forming nouns indicating a mass or tumor. Types Xanthelasma A xanthelasma is a sharply demarcated yellowish collection of cholesterol underneath the skin, usually on or around the eyelids. Strictly, a ...
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Xanthoma Histology
A xanthoma (pl. xanthomas or xanthomata) (condition: xanthomatosis) is a deposition of yellowish cholesterol-rich material that can appear anywhere in the body in various disease states. They are cutaneous manifestations of lipidosis in which lipids accumulate in large foam cells within the skin. They are associated with hyperlipidemias, both primary and secondary types. Tendon xanthomas are associated with type II hyperlipidemia, chronic biliary tract obstruction, primary biliary cirrhosis, sitosterolemia and the rare metabolic disease cerebrotendineous xanthomatosis. Palmar xanthomata and tuberoeruptive xanthomata (over knees and elbows) occur in type III hyperlipidemia. Etymology The term xanthoma stems from Greek ξανθός (xanthós) 'yellow', and -ωμα -oma, a suffix forming nouns indicating a mass or tumor. Types Xanthelasma A xanthelasma is a sharply demarcated yellowish collection of cholesterol underneath the skin, usually on or around the eyelids. Strictly, a ...
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Hyperlipidemia
Hyperlipidemia is abnormally elevated levels of any or all lipids (fats, cholesterol, or triglycerides) or lipoproteins in the blood. citing: and The term ''hyperlipidemia'' refers to the laboratory finding itself and is also used as an umbrella term covering any of various acquired or genetic disorders that result in that finding. Hyperlipidemia represents a subset of dyslipidemia and a superset of hypercholesterolemia. Hyperlipidemia is usually chronic and requires ongoing medication to control blood lipid levels. Lipids (water-insoluble molecules) are transported in a protein capsule. The size of that capsule, or lipoprotein, determines its density. The lipoprotein density and type of apolipoproteins it contains determines the fate of the particle and its influence on metabolism. Hyperlipidemias are divided into primary and secondary subtypes. Primary hyperlipidemia is usually due to genetic causes (such as a mutation in a receptor protein), while secondary hyperlipidem ...
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Familial Hypercholesterolemia
Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein (LDL cholesterol), in the blood and early cardiovascular disease. The most common mutations diminish the number of functional LDL receptors in the liver. Since the underlying body biochemistry is slightly different in individuals with FH, their high cholesterol levels are less responsive to the kinds of cholesterol control methods which are usually more effective in people without FH (such as dietary modification and statin tablets). Nevertheless, treatment (including higher statin doses) is usually effective. FH is classified as a type 2 familial dyslipidemia. There are five types of familial dyslipidemia (not including subtypes), and each are classified from both the altered lipid profile and by the genetic abnormality. For example, high LDL (often due to LDL receptor defect) is type 2. Others include defects in chylomicr ...
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Cerebrotendineous Xanthomatosis
Cerebrotendinous xanthomatosis, also called cerebral cholesterosis, is an autosomal recessive form of xanthomatosis. It falls within a group of genetic disorders called the leukodystrophies. Presentation An inherited disorder associated with the deposition of a steroid known as cholestanol in the brain and other tissues and with elevated levels of cholesterol in plasma but with normal total cholesterol level; it is characterized by progressive cerebellar ataxia beginning after puberty and by juvenile cataracts, juvenile or infantile onset chronic diarrhea, childhood neurological deficit, and tendineous or tuberous xanthomas. Genetics CTX is associated with mutations in the CYP27A1 gene, located on chromosome 2q33-qter. The disorder is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome (chromosome 2 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in o ...
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Sitosterolemia
Sitosterolemia is a rare autosomal recessively inherited lipid metabolic disorder. It is characterized by hyperabsorption and decreased biliary excretion of dietary sterols (including the plant phytosterol beta-sitosterol). Healthy persons absorb only about 5% of dietary plant sterols, but sitosterolemia patients absorb 15% to 60% of ingested sitosterol without excreting much into the bile. The phytosterol campesterol is more readily absorbed than sitosterol. Sitosterolemia patients develop hypercholesterolemia, tendon and tuberous xanthomas, premature development of atherosclerosis, and abnormal hematologic and liver function test results. Signs and symptoms Sitosterolemia may share several clinical characteristics with the well-characterized familial hypercholesterolemia (FH), such as the development of tendon xanthomas in the first 10 years of life and the development of premature atherosclerosis. However, in contrast to FH patients, sitosterolemia patients usually have ...
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List Of Xanthoma Variants Associated With Hyperlipoproteinemia Subtypes
When the cholesterol levels in the body rise above the normal level, a number of skin lesions can occur. Xanthomas are one of types of skin lesions that may occur in this situation. Other systemic conditions may also occur with increased levels of cholesterol in the blood. See also *List of cutaneous conditions *List of contact allergens *List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer *List of cutaneous conditions associated with internal malignancy *List of cutaneous conditions caused by mutations in keratins *List of cutaneous conditions caused by problems with junctional proteins *List of dental abnormalities associated with cutaneous conditions *List of genes mutated in cutaneous conditions * List of histologic stains that aid in diagnosis of cutaneous conditions *List of immunofluorescence findings for autoimmune bullous conditions *List of inclusion bodies that aid in diagnosis of cutaneous conditions * List of keratins expre ...
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Xanthelasma
Xanthelasma is a sharply demarcated yellowish deposit of cholesterol underneath the skin. It usually occurs on or around the eyelids (''xanthelasma palpebrarum'', abbreviated XP). While they are neither harmful to the skin nor painful, these minor growths may be disfiguring and can be removed. There is a growing body of evidence for the association between xanthelasma deposits and blood low-density lipoprotein levels and increased risk of atherosclerosis. A xanthelasma may be referred to as a xanthoma when becoming larger and nodular, assuming tumorous proportions. Xanthelasma is often classified simply as a subtype of xanthoma. Diagnosis Xanthelasma in the form of XP can be diagnosed from clinical impression, although in some cases it may need to be distinguished (differential diagnosis) from other conditions, especially necrobiotic xanthogranuloma, syringoma, palpebral sarcoidosis, sebaceous hyperplasia, Erdheim–Chester disease, lipoid proteinosis (Urbach–Wiethe diseas ...
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Xanthelasma
Xanthelasma is a sharply demarcated yellowish deposit of cholesterol underneath the skin. It usually occurs on or around the eyelids (''xanthelasma palpebrarum'', abbreviated XP). While they are neither harmful to the skin nor painful, these minor growths may be disfiguring and can be removed. There is a growing body of evidence for the association between xanthelasma deposits and blood low-density lipoprotein levels and increased risk of atherosclerosis. A xanthelasma may be referred to as a xanthoma when becoming larger and nodular, assuming tumorous proportions. Xanthelasma is often classified simply as a subtype of xanthoma. Diagnosis Xanthelasma in the form of XP can be diagnosed from clinical impression, although in some cases it may need to be distinguished (differential diagnosis) from other conditions, especially necrobiotic xanthogranuloma, syringoma, palpebral sarcoidosis, sebaceous hyperplasia, Erdheim–Chester disease, lipoid proteinosis (Urbach–Wiethe diseas ...
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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 up in the liver, a condition called cholestasis. Further slow damage to the liver tissue can lead to scarring, fibrosis, and eventually cirrhosis. Common symptoms are tiredness, itching, and in more advanced cases, jaundice. In early cases, the only changes may be those seen in blood tests. PBC is a relatively rare disease, affecting up to one in 3,000–4,000 people. It is much more common in women, with a sex ratio of at least 9:1 female to male. The condition has been recognised since at least 1851, and was named "primary biliary cirrhosis" in 1949. Because cirrhosis is a feature only of advanced disease, a change of its name to "primary biliary cholangitis" was proposed by patient advocacy groups in 2014. Signs and symptoms ...
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Non-X Histiocytosis
Non-X histiocytoses are a clinically well-defined group of cutaneous syndromes characterized by infiltrates of monocytes/macrophages, as opposed to X-type histiocytoses in which the infiltrates contain Langerhans cells. Conditions included in this group are: :* Juvenile xanthogranuloma :* Benign cephalic histiocytosis :* Generalized eruptive histiocytoma :* Xanthoma disseminatum :* Progressive nodular histiocytosis :* Papular xanthoma :* Hereditary progressive mucinous histiocytosis :* Reticulohistiocytosis :* Indeterminate cell histiocytosis :* Sea-blue histiocytosis :* Erdheim–Chester disease See also * X-type histiocytosis * Histiocytosis In medicine, histiocytosis is an excessive number of histiocytes (tissue macrophages), and the term is also often used to refer to a group of rare diseases which share this sign as a characteristic. Occasionally and confusingly, the term "histioc ... References Monocyte- and macrophage-related cutaneous conditions Hist ...
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Papule
A papule is a small, well-defined bump in the skin. It may have a rounded, pointed or flat top, and may have a dip. It can appear with a stalk, be thread-like or look warty. It can be soft or firm and its surface may be rough or smooth. Some have crusts or scales. A papule can be flesh colored, yellow, white, brown, red, blue or purplish. There may be just one or many, and they may occur irregularly in different parts of the body or appear in clusters. It does not contain fluid but may progress to a pustule or vesicle. A papule is smaller than a nodule; it can be as tiny as a pinhead and is typically less than 1 cm in width, according to some sources, and 0.5 cm according to others. When merged together, it appears as a plaque. Its color might indicate its cause, such as white in milia, red in eczema, yellowish in xanthoma and black in melanoma. They may open when scratched and become infected and crusty. Definition A papule is a small, well-defined bump in the ...
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