Xanthoma
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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, a ...
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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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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 express ...
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Xanthoma Disseminatum
Xanthoma disseminatum is a rare cutaneous condition that preferentially affects males in childhood, characterized by the insidious onset of small, yellow-red to brown papules and nodules that are discrete and disseminated. It is a histiocytosis syndrome. See also * 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 thi ... * List of cutaneous conditions References External links Monocyte- and macrophage-related cutaneous conditions {{Cutaneous-condition-stub ...
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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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Xanthoma Diabeticorum
Xanthoma diabeticorum is a cutaneous condition that may result in young persons who are unresponsive to insulin. See also * Xanthoma * Skin lesion A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of this s ... References Skin conditions resulting from errors in metabolism {{Cutaneous-condition-stub ...
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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 disease) ...
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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 disease) ...
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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 hyperlipidemi ...
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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 nor ...
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Lipidosis
A lipid storage disorder (or lipidosis) is any one of a group of inherited metabolic disorders in which harmful amounts of fats or lipids accumulate in some body cells and tissues. People with these disorders either do not produce enough of one of the enzymes needed to metabolize and break down lipids or, they produce enzymes that do not work properly. Over time, the buildup of fats may cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system, liver, spleen, and bone marrow. Inside cells under normal conditions, lysosomes convert, or metabolize, lipids and proteins into smaller components to provide energy for the body. Classification Disorders that store this intracellular material are part of the lysosomal storage diseases family of disorders. Sphingolipidoses Many lipid storage disorders can be classified into the subgroup of sphingolipidoses, as they relate to sphingolipid metabolism. Members of this group include Niemann-Pick disea ...
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Oral Mucosa
The oral mucosa is the mucous membrane lining the inside of the mouth. It comprises stratified squamous epithelium, termed "oral epithelium", and an underlying connective tissue termed ''lamina propria''. The oral cavity has sometimes been described as a mirror that reflects the health of the individual. Changes indicative of disease are seen as alterations in the oral mucosa lining the mouth, which can reveal systemic conditions, such as diabetes or vitamin deficiency, or the local effects of chronic tobacco or alcohol use. The oral mucosa tends to heal faster and with less scar formation compared to the skin. The underlying mechanism remains unknown, but research suggests that extracellular vesicles might be involved. Classification Oral mucosa can be divided into three main categories based on function and histology: *Lining mucosa, nonkeratinized stratified squamous epithelium, found almost everywhere else in the oral cavity, including the: **Alveolar mucosa, the lining betwe ...
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