Presentation
Most cases presented papillary epithelial hyperplasia and sub-epithelial foamy cells, which were immunopositive for CD68, CD63 and CD163 in all cases. [ncbi.nlm.nih.gov]
The case is presented to emphasize the importance of considering the disease entity even in patients with normal lipid profile. Case Presentation A 69 year old male presented with asymptomatic lesions over hands, foot, nose and ears since 2 months. [austinpublishinggroup.com]
Entire Body System
- Asymptomatic
VX typically presents as an asymptomatic plaque showing a verrucous appearance. Histological examination is essential for the diagnosis and shows verrucous hyperplasia of the epidermis and xanthoma cells limited to the dermal papillae. [ncbi.nlm.nih.gov]
A 69 year old male presented to our hospital with multiple asymptomatic lesions all over the body. Routine investigations and lipid profile were in normal range at the time of presentation. [austinpublishinggroup.com]
- Pain
Epigastric pain was dull, intermittent, nonradiating with no specific aggravating factors and relieved with pain medications and antacids. He did not have chest pain, fever or diarrhea, or urinary symptoms. He never had similar symptoms in the past. [journals.lww.com]
Typically, they are neither painful nor harmful. Although they are fatty deposits, the presence of a xanthelasma does not necessarily indicate that one has high cholesterol. [aao.org]
He denied having fever, chills, myalgia, abdominal pain, visual changes, recent changes in medications, or contact with anyone with similar symptoms. [mdedge.com]
The pain was often greater after overactivity and was relieved after rest with no obvious nocturnal pain. [journals.sagepub.com]
A 10-year-old non-obese boy presented with a painful nodular eruptions over the back of ankles for the last 5 years. [ncbi.nlm.nih.gov]
- Inflammation
Although several theories have been postulated to explain the occurrence of foamy histiocytes in the context of cholesterolosis and xanthogranulomatous inflammation, it is likely that preceding mild inflammation or completely resolved inflammation occurred [archivesofpathology.org]
The etiology is not yet completely understood; however, verruciform xanthoma is often associated with (a) conditions of chronic inflammation or trauma, such as lichen sclerosis, recessive dystrophic epidermolysis bullosa, and pemphigus vulgaris, as well [ncbi.nlm.nih.gov]
There was neither any inflammation nor evidence of malignancy. The foam cells were faintly positive for PAS and negative for PASD. Von Kossa and iron stains were negative. [indianjurol.com]
- Falling
The case histories Patient 1 A 37-year-old woman presented to the ataxia clinic with 1 year of increasing unsteadiness and episodes of recent falls. She had behavioural problems from an early age and had Asperger's syndrome. [pn.bmj.com]
It has even been shown that when the blood cholesterin falls as the result of the administration of a cholesterin-free diet or because of treatment of coexisting diabetes, the xanthomas may disappear. [cancerres.aacrjournals.org]
The number of native Hindi speakers is about 25% of the total Indian population; however, including dialects of Hindi termed as Hindi languages, the total is around 44% of Indians, mostly accounted from the states falling under the Hindi belt. [wikimili.com]
Am J Pediatr Hematol Oncol. 1988 Fall. 10(3):252-7. [Medline]. Szyfter W, Wierzbicka M, Bem G. [Rare case of xanthoma disseminatum with severe dyspnoea]. Otolaryngol Pol. 2006. 60(1):67-70. [Medline]. [emedicine.medscape.com]
- Pathologist
The lesions can be tender or pruritic, particularly if severe. 1,2 The first pathologist interpreted the biopsy as granuloma annulare because it showed interstitial collections of histiocytes and giant cells, as seen in this condition (though the extracellular [racgp.org.au]
Paulo (SP), Brazil IISpecialist medical doctor by the Brazilian Society of Dermatology – São Paulo (SP), Brazil IIIAssistant Physician of the Department of Dermatology of Complexo Hospitalar Padre Bento – Guarulhos (SP), Brazil IVMaster of Medicine, Pathologist [scielo.br]
College of American Pathologists Disclosure: Nothing to disclose. [emedicine.medscape.com]
Respiratoric
- Dyspnea
A 67-year-old man presented with dyspnea, general fatigue, and leg edema. Echocardiography demonstrated a large pericardial effusion with a 5 cm × 3 cm, dense hetero-echogenic tumor in the right atrium. [ncbi.nlm.nih.gov]
Mucous membrane involvement occurs in 40% to 60% of patients, mostly affecting the oropharynx (leading to dysphagia), larynx (dyspnea), or the cornea and conjunctiva (blindness). [jamanetwork.com]
If diagnosed in children with pruritus as a symptom, clinicians should investigate the possibility of cholestasis of the liver. [31] Patients with xanthoma disseminatum may present with symptoms of dysphagia, dyspnea, and obstructive blindness, depending [emedicine.medscape.com]
Gastrointestinal
- Abdominal Pain
He denied having fever, chills, myalgia, abdominal pain, visual changes, recent changes in medications, or contact with anyone with similar symptoms. [mdedge.com]
Advanced Search: • Use “ “ for phrases o [ “pediatric abdominal pain” ] • Use – to remove results with certain terms o [ “abdominal pain” –pediatric ] • Use OR to account for alternate terms o [teenager OR adolescent ] [msdmanuals.com]
Image Article An otherwise healthy 35 years old female not known to be diabetic presented to the outpatient clinic complaining of itchy papular generalized skin eruption, afebrile, no chest or abdominal pain ( Figure 1 ). [medical-clinical-reviews.imedpub.com]
Liver, Gall & Pancreas
- Hepatosplenomegaly
Patients with eruptive xanthoma may also have ophthalmologic and gastrointestinal involvement, such as lipemia retinalis (salmon-colored retina with creamy-white retinal vessels), abdominal pain, and hepatosplenomegaly. 3 Other types of xanthoma associated [mdedge.com]
Specifically, hypertriglyceridaemia is associated with an increased risk of developing acute pancreatitis, 6 hyperuricaemia, glucose intolerance, hepatosplenomegaly, hepatic steatosis and lipaemia retinalis. 2 Aside from fibrate therapy, treatment also [racgp.org.au]
Cardiovascular
- Heart Disease
Session Title: Managing Patients With Stable Ischemic Heart Disease: A Multitude of Things to Consider Abstract Category: 02. [onlinejacc.org]
Heart, 76(1): 84-5 [ CR ] [ PM ] [ EČ ][ GS ] Richter, W.O., Donner, M.G., Höfling, B., Schwandt, P. (1998) Long-term effect of low-density lipoprotein apheresis on plasma lipoproteins and coronary heart disease in native vessels and coronary bypass in [scindeks.ceon.rs]
It may be associated with raised blood cholesterol, high-density lipoprotein and triglyceride levels, leading to heart disease or diabetes. Syn. xanthoma; xanthelasma palpebrarum; xanthoma palpebrarum. See corneal arcus ; Hollenhorst's plaque. [medical-dictionary.thefreedictionary.com]
The risk of cardiovascular disease, including heart attacks, peripheral vascular disease and stroke, is increased with elevated levels of certain lipoproteins. [dermnetnz.org]
- Hypertension
Sign In A 30-year-old woman with diabetes who had poor glucose control, hypertension, and hyperlipidemia was referred for evaluation of a rash of 1 month's duration. [nejm.org]
A 46-year-old man with obesity, hypertension, hyperlipidemia and bipolar disorder presented with a rash ( Figure 1 ) accompanied by ongoing excessive urine production, excessive thirst and blurred vision. [cmaj.ca]
Case description A 48-year-old lady with hypertension presented with chest discomfort. She had family history of premature coronary artery disease (CAD) in mother and younger sister. [academic.oup.com]
- Heart Failure
However, patient anamnesis revealed myocardial infarction in the past, congestive heart failure, and atrial fibrillation. [ncbi.nlm.nih.gov]
Skin
- Xanthoma
(also known as tuberous xanthoma) is characterized by xanthomas located over the joints.[2]:530 Xanthoma tendinosum[edit] Xanthoma tendinosum (also tendon xanthoma or tendinous xanthoma[5]) is clinically characterized by papules and nodules found in [en.wikipedia.org]
The features of a man with a scrotal verruciform xanthoma are presented. Using PubMed, the following terms were searched and relevant citations assessed: anogenital, foam cells, penis, scrotum, verruciform, verruciform xanthoma, vulva, and xanthoma. [ncbi.nlm.nih.gov]
and verruciform xanthoma. [emedicine.com]
- Xanthelasma
Mixed hyperlipidemia due to type 1 diabetes mellitus Mixed hyperlipidemia due to type 2 diabetes mellitus R lower xanthelasma R upper xanthelasma R xanthelasma Right lower xanthelasma Right upper xanthelasma Right xanthelasma Tuberous xanthoma Xanthelasma [icd9data.com]
Types[edit] Xanthelasma[edit] Histology picture of xanthoma showing lipid-laden foam cells with large areas of cholesterol clefts, 10 × magnification, eosin and hematoxylin stain[1] A xanthelasma is a sharply demarcated yellowish collection of cholesterol [en.wikipedia.org]
Figure 4 Figure 5 Patient following treatment of xanthelasma and papular xanthoms Discussion We present a rare case of normolipemic papular xanthoma with xanthelasma in a young female. [escholarship.org]
xanthelasma, treatment of xanthelasma, treatment for xanthelasma, xanthelasma treatments, treatment xanthelasma, xanthelasma treatment, removing xanthelasma at home, xanthelasma removal at home, xanthelasma home removal, xanthelasma of eyelid, eye xanthelasma [xanthel.com]
- Flushing
New York 11367 Department of Mathematics, Queens College of The City University of New York, Flushing, New York 11367 Find articles by Samuel, P. in: JCI | PubMed | Google Scholar Department of Medicine, The Long Island Jewish Medical Center, New Hyde [jci.org]
Two very common side effects that occur in niacin therapy and can limit patient compliance are flushing and dyspepsia. [dermatologyadvisor.com]
At therapeutic doses of at least one gram daily, it causes flushing. An analogue, acipimox, is better tolerated. [dermnetnz.org]
- Skin Rash
An obese 50-year-old man with hypertension, hyperlipidemia, recently diagnosed diabetes, and a history of grand mal seizures presented to the emergency room complaining of skin rash for 1 week. [mdedge.com]
Another common autoimmune disorder in WAS is a type of blood vessel inflammation (vasculitis) that typically causes fever and skin rash on the extremities. [primaryimmune.org]
- Hyperpigmentation
[…] are systemic hyperlipidemia, involvement of all four eyelids, and previous history of recurrent xanthelasma. [108] Er:YAG laser treatment may be recurrence-free for up to 12 months. [109] Transient erythema, infections, scarring, and postinflammatory hyperpigmentation [emedicine.medscape.com]
Neurologic
- Stroke
Critical Care Our emergency medicine physicians and nurses who are dedicated to the care of patients with broken arms and “broken” hearts to stroke or sudden pain and more. [excelahealth.org]
[…] retinal vessels, visible on fundoscopic exam Arcus lipoides corneae Fatty liver ( hepatic steatosis ) Severe hypertriglyceridemia (typically > 1000 mg/dL ) → pancreatitis Atherosclerosis with secondary diseases Coronary heart disease Myocardial infarction Stroke [amboss.com]
LDL-cholesterol is considered to be “bad cholesterol” because it gets deposited in artery walls (atheroma), producing cardiovascular disease (infarction, stroke, etc.). [therapeutique-dermatologique.org]
High cholesterol presents a significant health risk in the United States, and although high cholesterol is a known risk factor for heart disease and stroke, its potential role in the musculoskeletal system is not well understood. [hindawi.com]
There was no history suggestive of myocardial infarction or stroke at a younger age in any of the family members. [ijpd.in]
- Polyneuropathy
POEMS syndrome (polyneuropathy organomegaly endocrinopathy M-protein skin changes) with xanthoma - a case report. J Eur Acad Dermatol Venereol. 2014 Oct 8. [Medline]. Maejima H, Katsuoka K. Sarcoidosis coexisting with eruptive xanthoma. [emedicine.medscape.com]
Workup
This study reports the case of a 60-year-old man having painless nodules on his elbows and Achilles tendons without typical gout crisis, followed in the microcrystalline disease clinic of Unifesp for diagnostic workup. [scielo.br]
A thorough workup is essential to identify the underlying condition in order to initiate early treatment and to prevent later complications. [austinpublishinggroup.com]
[…] pancreatitis is 5%, and at levels above 2,000 mg/dL, the risk is 10% to 20%. 4 In our patient, the diagnosis of chylomicronemia was based on the appearance of the skin lesions, his history of pancreatitis and diabetes mellitus, and the results of the initial workup [mdedge.com]
This study reports the case of a 60-year-old man having painless nodules on his elbows and Achilles tendons without typical goutcrisis, followed in the microcrystalline disease clinic of Unifesp for diagnostic workup. [mendeley.com]
References: [4] [1] [14] [15] Diagnostics Laboratory analysis Fasting lipid profile : total cholesterol, HDL, and triglycerides are measured Identify underlying cause Fasting blood glucose level or Hb1Ac TSH level Liver function tests Urine analysis Further workup [amboss.com]
Serum
- Hypercholesterolemia
Keywords: Familial hypercholesterolemia, cutaneous xanthomas, lipid profiles, homozygous state How to cite this article: Reddy B, Chaudhuri S N. Familial hypercholesterolemia with multiple cutaneous xanthomas. [e-ijd.org]
A final diagnosis of familial hypercholesterolemia with tendinous xanthoma was made. [idoj.in]
Her thyroid hormones were within normal limits (hypothyroidism can cause secondary hypercholesterolemia). The clinical presentation and lipid profile is consistent with familial hypercholesterolemia, type IIa. [webpathology.com]
ATT of each side was measured on the radiograph in patients with ACS and in those with acromegaly (n=18), non-familial hypercholesterolemia (non-FH; n=96), and familial hypercholesterolemia (FH; n=31). [ncbi.nlm.nih.gov]
[Familial hypercholesterolemia - past and present. My experiences and findings in our group of patients with familial hypercholesterolemia]. Vnitr Lek. 2014 Nov. 60(11):963-9. [Medline]. Khezri F, Gibson LE, Tefferi A. [emedicine.com]
Treatment
Early recognition and treatment of the underlying condition decreases morbidity and mortality. After treatment of the underlying metabolic disorders, lesions mostly disappear without leaving scars. [ncbi.nlm.nih.gov]
References ↵ ↵ ↵ National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III). [cmaj.ca]
[…] of xanthelasma, treatment for xanthelasma, xanthelasma treatments, treatment xanthelasma, xanthelasma treatment, removing xanthelasma at home, xanthelasma removal at home, xanthelasma home removal, xanthelasma of eyelid, eye xanthelasma, eyelid xanthelasma [xanthel.com]
Prognosis
Early diagnosis and treatment of this disease with chenodeoxycholic acid is essential and has been shown to greatly improve the patient's symptoms and prognosis. [ncbi.nlm.nih.gov]
Prognosis The prognosis is good after treatment of bone xanthoma [1,4-6,8,9,11]. [omicsonline.org]
Outlook (Prognosis) The growth is non-cancerous and painless, but may be a sign of another medical condition. When to Contact a Medical Professional Call your health care provider if xanthomas develop. [indiatoday.in]
Outlook (Prognosis) The growth is noncancerous and painless, but may be a sign of another medical condition. When to Contact a Medical Professional Call your provider if xanthomas develop. [ufhealth.org]
Outlook (Prognosis) The growth is noncancerous and painless, but may be a sign of another medical condition. Prevention Control of blood lipids, including triglycerides and cholesterol levels, may help reduce development of xanthomas. [account.allinahealth.org]
Etiology
Verruciform xanthoma (VX) is an uncommon mucocutaneous lesion of uncertain etiology. Originally thought to be limited to the oral mucosa, its occurrence in other mucosal and nonmucosal sites also has been documented. [ncbi.nlm.nih.gov]
American Journal of Surgical Pathology. 22(4):479-487, APRIL 1998 PMID: 9537477 Issn Print: 0147-5185 Publication Date: April 1998 Checking for direct PDF access through Ovid Abstract Verruciform xanthoma is a rare clinicopathologic entity of uncertain etiology [insights.ovid.com]
Multiple myeloma and histiocytosis X are less common etiologies. The patient pictured here has biliary cirrhosis. Source: Color Atlas of Pediatric Dermatology Samuel Weinberg, Neil S. [medicinenet.com]
Epidemiology
References: [1] [2] Epidemiology References: [2] Epidemiological data refers to the US, unless otherwise specified. [amboss.com]
Summary Epidemiology The incidence of WAS has been estimated at less than 1 in 100,000 live births. The disease almost exclusively affects males. [orpha.net]
[…] flat xanthomas, verrucous xanthomas, and xanthelasma.[1] Eruptive xanthoma most commonly involves the extensor surfaces of the extremities, buttocks, and back.[2] The disease is a characteristic manifestation of extreme hypertriglyceridemia.[3] Exact epidemiological [journals.lww.com]
Epidemiology The reported incidence of GX was quite variable: it ranged from 0.018% to 7% in endoscopy series and was as high as 58% in an autopsy series ( 3 - 6 ). [emedicalj.com]
Pathophysiology
Xanthomas: clinical and pathophysiological relations. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2014 ;158: 181 – 188. [Crossref], [Web of Science ®], [Google Scholar] ]. [tandfonline.com]
We discuss the clinical features, pathophysiology and treatment of CTX. As the condition is treatable, this is a neurological rarity not to be missed. [pn.bmj.com]
Etiology Classification Pathophysiology Clinical features Typically no specific signs or symptoms Skin manifestations Xanthoma : nodular lipid deposits in the skin and tendons Pathophysiology: Extremely high levels of triglycerides and/or LDL result in [amboss.com]
The pathophysiology relates to structural mutation with defective actin polymerization in hematopoietic cells as a result of deficient or dysregulated activity of the Wiskott-Aldrich syndrome protein (WASp) which has multiple functions. [radiopaedia.org]
Prevention
Prompt recognition of such skin manifestations is warranted to prevent development of fatal medical condition like coronary artery disease and pancreatitis. [ncbi.nlm.nih.gov]
In either case, a child with tendinous xanthomas requires prompt evaluation and medical treatment to prevent irreversible disease sequelae. [visualdx.com]
Prevention Keeping your blood lipids within a normal range through healthy eating and maintaining a healthy weight can help. [healthnavigator.org.nz]
Sources: National Diabetes Information Clearinghouse: “Prevent diabetes problems: Keep your feet and skin healthy.“ American Diabetes Association: “Skin Complications.” [webmd.com]