Xanthoma: Causes & Reasons

Possible Causes for Xanthoma

The characteristic lesions associated with the condition are tuberous xanthomas, which appear as firm, painless, reddish-yellow nodules primarily on extensor surfaces of joints [nejm.org]

The xanthomas also regressed and disappeared by 3 years of age. [ncbi.nlm.nih.gov]

Image of tendon xanthoma, a pathognomonic physical examination finding in patients with familial hypercholesterolemia. Figure. [jaoa.org]

Heterozygous Familial Hypercholesterolemia

Sixty-two patients had positive physical examination findings for Achilles tendon xanthomas. [ajronline.org]

Tendon xanthomas, deposits of cholesterol under the skin around the tendons, result from excess levels of LDL-C in the bloodstream. [thefhfoundation.org]

Cutaneous xanthomas appear within the first 4 years of life. [ommbid.mhmedical.com]

Familial Hypercholesterolemia Type 1

What is a xanthoma? [dermnetnz.org]

The case presented here is of a 48-year old male with large tendon xanthomas attributable to CTX. [ncbi.nlm.nih.gov]

Xanthoma should be considered in cases with swellings in the Achilles tendon. Total resection is necessary to avoid recurrence of the xanthomas. [ncbi.nlm.nih.gov]

Homozygous Familial Hypercholesterolemia

Physical examination revealed tuberous xanthomas on the processus olecrani, as well as smaller tendinous and tuberous xanthomas on the hands. [ncbi.nlm.nih.gov]

Figure 1: Findings at presentation (a) Xanthomas over the fingers (b) Xanthomas over both elbows(c) Xanthomas over both knees tending to coalesce (d) Xanthomas over the Achilles [ijo.in]

We report the case of a 12-year-old male who developed corneal arcus and multiple skin lesions with a 10-year history of xanthomas. [ncbi.nlm.nih.gov]

Primary Biliary Cirrhosis

अंग्रेज़ी में XANTHOMA का उच्चारण XANTHOMA की व्याकरणिक श्रेणी अंग्रेज़ी में XANTHOMA का क्या अर्थ होता है? [educalingo.com]

Xanthoma formation, however, is not a very common sign in this disorder. [doi.org]

[…] and ankles Accumulation of abdominal fluid (ascites) Fatty deposits on the skin around your eyes, your eyelids, or in the creases in your palms, soles, elbows or knees (xanthomas [columbiasurgery.org]

Hypertriglyceridemia

Eruptive xanthomas are cutaneous lesions often indicating severe hypertriglyceridemia and uncontrolled diabetes. [ncbi.nlm.nih.gov]

His severe hypertriglyceridemia, including xanthomas, resolved with dietary long-chain fat restriction. [ncbi.nlm.nih.gov]

Palmar crease xanthomas may also occur.The diagnosis is made on blood tests, often performed as part of screening. [en.wikipedia.org]

Alagille Syndrome

Alagille syndrome causes intractable pruritus and disfiguring xanthomas because of retained bile acids and cholesterol. [ncbi.nlm.nih.gov]

It can rarely develop into cirrhosis, but be responsible for a disabling pruritus and xanthomas. [ncbi.nlm.nih.gov]

In the remaining 29 children, xanthomas disappeared at a median age of seven years (range 3–18 years). [gut.bmj.com]

Familial Hypercholesterolemia Type 2

IIb or III hyperlipoproteinemia Hypercholesterolemia with endogenous hyperglyceridemia Hyperbetalipoproteinemia with prebetalipoproteinemia Tubo-eruptive xanthoma Xanthoma [icd9data.com]

tuberous xanthomas, xanthelasma, atherosclerosis How does hypercholesterolemia lead to coronary artery disease? [brainscape.com]

Clinical signs that may appear during adulthood are xanthomas of the eyelids (i.e. xanthelasma), transient xanthomas on palms (i.e. planar palmar xanthomas) or tuberous xanthomas [orpha.net]

Cerebrotendinous Xanthomatosis

[…] is an autosomal dominant disorder that may also present with tendon xanthomas and a family history of premature atherosclerosis. [ncbi.nlm.nih.gov]

Deposition in other tissues causes tendon xanthomas, premature atherosclerosis, and cataracts. [ncbi.nlm.nih.gov]

She also had painful xanthomas of the achilles tendons. A bilateral cataract operation had been performed during adolescence. [thieme-connect.com]

Glycogen Storage Disease Type 1C

Short stature & growth delay Abdomen protrusion Build up of glycogen and fat in the liver Enlarged liver and malignant/benign growths in the liver Yellow plaques on skin (xanthomas [en.wikibooks.org]

Xanthoma and diarrhea may be present. Impaired platelet function can lead to a bleeding tendency with frequent epistaxis. [ncbi.nlm.nih.gov]

[…] and central giant cell granuloma ( 19590614 ) Reduced creatinine clearance Focal segmental glomerulosclerosis Renal stones Renal enlargement osteoporosis gouty arthritis xanthoma [humpath.com]

Secondary Biliary Cirrhosis

Patients will display the general clinical features of cholestasis such as pruritis, xanthomas, jaundice, steatorrhea, and deficiencies of the fat soluble vitamins A, D, E [pathwaymedicine.org]

P hy sica l e x am i natio n : May be normal (no finding) Jaundice Melanosis Xanthomas Hepatomegaly Splenomegaly Clubbing Bone tenderness Sicca syndrome (drying up of mucus [medicscientist.com]

Hyperlipoproteinemia Type 5

[…] common of the xanthomas. [namrata.co]

tendinous xanthoma and planar xanthoma (intertriginous and xanthelesma-like lesions). [ijdvl.com]

Type IIb hyperlipoproteinemia can be also associated with tuberous xanthoma and tendinous xanthoma. [1],[3],[4] Xanthomas develop either through increased uptake of lipids [ijdvl.com]

Hyperlipoproteinemia Type 1

[…] common of the xanthomas. [namrata.co]

Planar xanthomas include xanthelasma palpebrarum/xanthelasma, xanthoma striatum palmare, and intertriginous xanthomas. [ijpd.in]

However, the exact mechanisms that induce xanthoma formation are less clear. [dermatologyadvisor.com]

Chylomicronemia Syndrome

Eruptive xanthomas were observed on his elbows, knees and hip. [jstage.jst.go.jp]

The xanthomas are the aggregates of chylomicrons that have become large enough to see on the exterior of the skin. [chylomicronemiasyndrome.wordpress.com]

Chylomicronemia, when accompanied by eruptive xanthoma, lipemia retinalis, or abdominal symptoms, is referred to as the "chylomicronemia syndrome" and can cause acute pancreatitis [ncbi.nlm.nih.gov]

Glycogen Storage Disease Type 1

Abnormalities of lipids may lead to xanthoma formation. Uric acid is often elevated and may cause clinical gout. [patient.info]

[…] accumulation of fat in the cheeks, buttocks, and subcutaneous tissues; bleeding tendency; epistaxis; occasionally, steatorrhea; lumbar lordosis; adiposity; skin yellowish xanthomas [mda.org.au]

Congenital Generalized Lipodystrophy

We report a 3-month-old Taiwanese boy with initial presentation of a lack of subcutaneous fat, prominent musculature, generalized eruptive xanthomas, and extreme hypertriglyceridemia [ncbi.nlm.nih.gov]

Patients can also present with dermatological manifestations such as eruptive xanthomas, hirsutism and thick, curled scalp hair. [symptoma.com]

Familial Partial Lipodystrophy

Variable symptoms may comprise pancreatitis and/or eruptive xanthomas due to severe hypertriglyceridemia, acanthosis nigricans, polycystic ovaria, and carpal tunnel syndrome [ncbi.nlm.nih.gov]

Xanthoma and nail changes may occur. Type 3 is due to mutations in the PPARG gene. It is rare with approximately 30 cases reported to date. [en.wikipedia.org]

Eruptive xanthoma (0.6%), diabetic foot (0.2%), diabetic bulla (0.4%), diabetic dermopathy (0.2%), generalized granuloma annulare (0.2%), and insulin reactions (6.2%) and [e-ijd.org]

Glycogen Storage Disease

 Excess of acetyl CoA resulting in increased cholesterol levels, produce xanthomas.  There is a blockade in gluconeogenesis. 5.  Hyperuricemia:  Glucose 6-phosphate [slideshare.net]

At age 18 years of age, she had marked hypertriglyceridemia (3860 mg/dL) and eruptive xanthomas and was treated with fenofibrate, atorvastatin, and fish oil. [ncbi.nlm.nih.gov]

Affected individuals may also have diarrhea and deposits of cholesterol in the skin (xanthomas). People with GSDI may experience delayed puberty. [ghr.nlm.nih.gov]

Niemann-Pick Disease

Xanthoma tuberosum References Millat et al., (2005) Mol Genet Metab 86:220-232 Park et al., (2003) Hum Mut 22:313 Verot et al., (2007) Clin Genet 71:320-30 Sevin et al., [genedx.com]

Tendon xanthoma Triglyceride storage disease with ichthyosis Xanthoma tendinosum Clinical Information Autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase [icd9data.com]

[…] lipidosis; 213700*) Sterol 27-hydroxylase Onset: Adolescence Urine metabolites: Elevated 7-alpha-hydroxylated bile alcohol Clinical features: Juvenile cataracts, tendon and skin xanthomas [msdmanuals.com]

Xanthoma

Xanthoma A patient's knee showing multiple xanthoma tuberosum[1] Specialty Gastroenterology, dermatology A xanthoma (pl. xanthomas or xanthomata) (condition: xanthomatosis [en.wikipedia.org]

Link/Cite Link to this page Cite this page MLA Style "Xanthoma." YourDictionary. LoveToKnow. www.yourdictionary.com/xanthoma. APA Style Xanthoma. (n.d.). [yourdictionary.com]

xanthoma and diffuse plane xanthomatosis. [nursingtimes.net]

Xanthomatosis

[…] simply as a subtype of xanthoma. [4] Xanthoma tuberosum [ edit ] Xanthoma tuberosum (also known as tuberous xanthoma) is characterized by xanthomas located over the joints [en.wikipedia.org]

Cerebrotendinous xanthomatosis without tendon xanthoma: a diagnostic challenge. [abstract]. [mdsabstracts.org]

Biopsy of the specimen revealed it to be a xanthoma with cholesterol crystals. [jdrntruhs.org]

Dermochondrocorneal Dystrophy

The most common xanthomatous disorders seen in childhood including xanthoma disseminatum, papular xanthoma, and benign cephalic histiocytosis are not associated with arthritis [ped-rheum.biomedcentral.com]

Differential Diagnosis of Xanthoma Disseminatum Most Likely · Chronic disseminated Langerhans cell histiocytosis · Tuberous xanthoma (hyperlipemic) · Papular xanthoma Consider [dermaamin.com]

Xanthomas can develop in the setting of altered systemic lipid metabolism or as a result of local cell dysfunction. [ximenawortsman.com]

Dyslipidemia

C, Achilles tendon xanthomas. Notice the marked thickening of the tendons. D, Tendon xanthomas. E, Tuberous xanthomas. F, Palmar xanthomas. G, Eruptive xanthomas. [utmb.edu]

[…] in type IIa Xanthelasma in type IIb Premature atherosclerosis Palmar and tuberoeruptive xanthomas Premature atherosclerosis Tuberoeruptive xanthomas Acute pancreatitis Features [amboss.com]

Case 3 An 11-year-old girl presented with palmar xanthomas ( figure 1 ) and tubero-eruptive xanthomas of both elbows. [ncbi.nlm.nih.gov]

Lipodystrophy

Patients may also present with dermatologic manifestations like eruptive xanthomas, hirsutism, and thick, curled scalp hair. [symptoma.com]

Patients with this syndrome have plasma triglyceride levels ranging from 10 to 100 times the normal value (1500 to 15,000 mg per deciliter [17 to 170 mmol per liter]), eruptive xanthomas [doi.org]

Eruptive xanthomas are not frequent. In the literature, there are several reports of umbilical hernia in patients with BSCL [ 12, 22 ]. [dmsjournal.biomedcentral.com]

Langerhans-Cell Histiocytosis

When the disease is disseminated, it can be referred to as xanthoma disseminatum. [hopkinsmedicine.org]

[…] graft versus host disease, viral infection and infiltrative diseases such as leukemia or lymphoma, reticuloendothelial storage disease, congenital infections and papular xanthomas [ijpmonline.org]

It can also involve the skin and clinically appears with pruritic rash, xanthelasma and eyelid xanthomas, in a background of normal lipid profile [ 28 ]. [intechopen.com]

Necrobiosis Lipoidica

[…] considerations: Acute complications of sarcoidosis Granuloma annulare Hematologic malignancies Paraproteinemia Rheumatoid arthritis Sarcoidosis Ulcerated necrobiotic Xanthogranuloma Xanthomas [ncbi.nlm.nih.gov]

Tendon Sheath Giant Cell Tumor

GCTTS present as localized or diffuse proliferation of synovial-like cells, giant cells, inflammatory cells and xanthoma cells along tendon sheaths. [tumorsurgery.org]

Tumors are usually 0.5 to 5 cm in diameter and composed of rounded or polygonal cells, collagen, inflammatory cells histiocytes, giant cells and xanthoma cells, rich in hemosiderin [symptoma.com]

Microscopically an admixture of polygonal and spindle shaped mononuclear cells, xanthoma cells, multinucleated gaint cells in a collagenous, variably hyalinised stroma was [npplweb.com]

Hyperlipidemia

We report a case of perineural xanthoma arising in a patient with type 2 DM and hyperlipidemia. [ncbi.nlm.nih.gov]

Intracranial xanthomas are extremely rare. We present a case of an extensive xanthoma of the temporal bone in a patient with hyperlipidemia. [ncbi.nlm.nih.gov]

Abstract A xanthoma, located in the ulna, not accompanied by the traditional cutaneous and tendinous manifestations (xanthoma and xanthelasma) and with a late onset of alterations [ncbi.nlm.nih.gov]

Familial Hypercholesterolemia

The case presented here is of a 48-year old male with large tendon xanthomas attributable to CTX. [ncbi.nlm.nih.gov]

Xanthoma should be considered in cases with swellings in the Achilles tendon. Total resection is necessary to avoid recurrence of the xanthomas. [ncbi.nlm.nih.gov]

We report 4-year-old dichorionic diamniotic twins (boy and girl) with FH who presented with multiple xanthomas on the face, both knees, both feet, and buttocks. [ncbi.nlm.nih.gov]

Xanthoma Disseminatum

[…] query=xanthoma%20disseminatum xanthoma disseminatum A rare benign normolipaemic disorder of adults with coalescent cutaneous xanthoma's composed of non-X histiocytes on flexural [encyclo.co.uk]

Non-X ... (33 of 351 words) en.wikipedia.org/wiki/Xanthoma disseminatum New World Dictionary: xanthoma | xanthomas [plural] | xanthomata [plural] | xanthomatous [adjective [memidex.com]

Xanthoma disseminatum is a rare condition for which there is no medical treatment. [ncbi.nlm.nih.gov]