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]

• Soft Tissue Swelling

  Figure 1 A 22-year-old woman with a family history of hypercholesterolemia had had a soft-tissue swelling on the back of her left ankle for several years. Examination revealed a fusiform swelling of the Achilles' tendon. [doi.org]

• 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.medscape.com]

• Gouty Tophus

  Gouty tophus was considered as the fibrillary material was crystalline and birefringent, and resembled urate crystals, but the overall histological and clinical findings did not favour this diagnosis. [racgp.org.au]

  Great toe gouty tophus-like lesion revealing extensive tendon xanthomatosis in a asymptomatic hyperuricemic patient. J Postgrad Med. 2013 Jul-Sep. 59(3):238-9. [Medline]. Caputo R, Monti M, Berti E, Gasparini G. [emedicine.medscape.com]

• 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]

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]

• Ketonuria

  His lipoprotein lipase level was 25 mg/dL and was also found to have HbA1c level of 13.4, elevated fasting, postprandial blood glucose levels, glycosuria, and ketonuria. [journals.lww.com]

• White Matter Lesions

  In addition, there were multiple white matter lesions in both cerebral hemispheres, which were largely peripheral. There was mild cerebellar atrophy. The patient was treated with chenodeoxycholic acid (CDA) and statins. [pn.bmj.com]

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]

Treatment - The main aim in treatment of xanthoma is to treat the underlying cause that is resulting in lipid abnormalities. - In some cases no causal factors can be found or the xanthoma may not resolve after treatment of the underlying cause. - Eruptive [nursingtimes.net]

[…] 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]

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]

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]

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]

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]

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]

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]