5,796 results match your criteria Xanthomas


Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review.

Medicine (Baltimore) 2019 Apr;98(15):e15013

Department of Endocrinology, Children's Hospital, Zhejiang University School of Medicine.

Rationale: Sitosterolemia is a rare autosomal recessive disorder of dyslipidemia due to mutations of genes ABCG5 and ABCG8, leading to highly elevated plasma levels of plant sterols and expanded body pools of cholesterol.

Patient Concerns: We present a 9-year-old and a 7-year-old Chinese boy with hypercholesterolemia and xanthomas of sitosterolemia due to ABCG5 gene mutations. We also make a literature review of another 30 sitosterolemic children cases that have been reported with virulence ABCG5 gene mutations. Read More

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http://dx.doi.org/10.1097/MD.0000000000015013DOI Listing

Optic Neuropathy with Features Suggestive of Optic Neuritis in Cerebrotendinous Xanthomatosis.

Case Rep Neurol Med 2019 12;2019:2576826. Epub 2019 Feb 12.

Division of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, University of Miyazaki, Miyazaki, Japan.

We describe our encounter with a 39-year-old man who exhibited acute painless visual loss and progressive gait disturbance. He had tendinous xanthoma and several neuroophthalmological findings indicative of optic neuropathy in the right eye, including afferent pupillary defect, cecocentral scotoma, and optic disc swelling. Neurological examination showed cerebellar ataxia and pyramidal weakness. Read More

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https://www.hindawi.com/journals/crinm/2019/2576826/
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http://dx.doi.org/10.1155/2019/2576826DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390236PMC
February 2019
2 Reads

Role of LDL apheresis in a case of homozygous familial hypercholesterolemia.

Drug Discov Ther 2019 ;13(1):59-61

Department of Medicine, All India Institute of Medical Sciences.

Familial hypercholesterolemia (FH) is a form of primary hyperlipoproteinemia characterized by the presence of high concentrations of serum low density lipoprotein (LDL) cholesterol, increased tendency to form xanthomas and early onset of coronary artery disease. This disease is an autosomal dominant disorder caused by defects in the gene that encode for the LDL receptor. Homozygous familial hypercholesterolemia is a rare occurrence and here we report a case of an 18-year-old girl with familial hypercholesterolemia treated with anti-lipidemic drugs and controlled only with LDL apheresis. Read More

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http://dx.doi.org/10.5582/ddt.2019.01001DOI Listing
January 2019
1 Read

Variable expression and penetrance in Portuguese families with Familial Hypercholesterolemia with mild phenotype.

Authors:
I M Gaspar A Gaspar

Atheroscler Suppl 2019 Mar;36:28-30

Metabolic Unit, Pediatric Department, Santa Maria Hospital, Lisboa, Portugal.

Familial hypercholesterolemia is an Mendelian dominant disorder characterized by defects of the low density lipoprotein receptor (LDLR) that result in a defective removal of LDL from plasma, which promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and arteries (atherosclerosis). Diagnosis severe clinical phenotype FH with Dutch Lipid Clinic Network Criteria, encompassing history of premature ASCVD, tendon xanthomas, and a family history of hypercholesterolemia and premature ASCVD in relatives is rare in the Portuguese FH patients. There is a variability of the phenotype in FH individuals with clinical diagnosis or genetic mutation (carriers and patients) probably due to environmental factors in the last century, a Mediterranean diet, or a diet without fat food, trans fat food, no smoking, no sedentary life that can interfere with our metabolism, or are consequences of polygenic, epigenetic, acquired defects, modifiers genes and beta-globin asymptomatic carriers. Read More

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http://dx.doi.org/10.1016/j.atherosclerosissup.2019.01.006DOI Listing
March 2019
4 Reads

Diagnostic challenge: A case of late-onset spinal form cerebrotendinous xanthomatosis.

Neurology 2019 Feb;92(9):438-439

From the Departments of Neurology (D.M., A.T., G.Y.-C., S.S., B.E.) and Radiology (R.G.), Faculty of Medicine, Hacettepe University, Sihhiye, Ankara, Turkey.

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http://dx.doi.org/10.1212/WNL.0000000000007015DOI Listing
February 2019

Clinical features, molecular characteristics, and treatments of a Chinese girl with sitosterolemia: A case report and literature review.

J Clin Lipidol 2019 Jan 22. Epub 2019 Jan 22.

Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China. Electronic address:

Sitosterolemia is a rare autosomal recessive disease characterized by a significant increase in blood plant sterol levels. Clinical manifestations usually include xanthomas, hypercholesterolemia,premature atherosclerosis and hematological abnormalities. We report here a sitosterolemia patient who presented with multiple xanthomas and profound hypercholesterolemia since 3 years old. Read More

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http://dx.doi.org/10.1016/j.jacl.2019.01.007DOI Listing
January 2019
1 Read

Verruciform Xanthoma of the Oral Mucosa: A Series of Eight Typical and Three Anomalous Cases.

Int J Surg Pathol 2019 Feb 6:1066896919827374. Epub 2019 Feb 6.

1 Queen Victoria Hospital NHSF Trust, East Grinstead, West Sussex, UK.

In this series, there are 8 typical verruciform xanthomas of the oral mucosa and 3 anomalies, 1 polypoid, 1 florid, and 1 carcinomatous. All were characterized by infiltrates of CD68-positive xanthomatous histiocytes in the lamina propria. The 11 patients comprised 6 men and 5 women (mean age = 54. Read More

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http://dx.doi.org/10.1177/1066896919827374DOI Listing
February 2019
1 Read

Controversy over the atherogenicity of lipoprotein-X.

Curr Opin Endocrinol Diabetes Obes 2019 Apr;26(2):117-123

Department of Clinical Laboratory Medicine, Juntendo University Graduate School of Medicine, Tokyo, Japan.

Purpose Of Review: Lipoprotein-X (Lp-X) is an abnormal lipoprotein containing abundant free cholesterol and phospholipids, as well as some apolipoprotein E (apoE). Serum Lp-X increases in patients with cholestasis and lecithin-cholesterol acyltransferase deficiency, as well as in those receiving intravenous lipid emulsion. Lp-X is often associated with skin xanthomas in cholestatic patients. Read More

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http://dx.doi.org/10.1097/MED.0000000000000466DOI Listing
April 2019
5 Reads

[A Resected Case of Gallbladder Cancer Concomitant with Xanthogranulomatous Cholecystitis with Difficulty in Preoperative Diagnosis].

Gan To Kagaku Ryoho 2018 Dec;45(13):2411-2413

Dept. of Surgery, Toyonaka Municipal Hospital.

A 78-year-oldman was referredto our hospital for right abdominal pain. The patient was diagnosedwith xanthogranulomatous cholecystitis(XGC)at the gallbladder fundus and adenomyomatosis(ADM)at the gallbladder neck. Because malignancy was undeniable, laparotomy was performed. Read More

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December 2018
2 Reads

A case of intramuscular xanthelasma palpebrarum found during blepharoplasty.

Arch Craniofac Surg 2018 Dec 27;19(4):296-299. Epub 2018 Dec 27.

Department of Radiology, Kyung Hee University Medical Center, Kyung Hee University College of Medicine, Seoul, Korea.

Xanthelasma palpebrarum is the most common cutaneous xanthoma found on the medial side of the eyelid. The typical lesion is usually a flat and yellowish plaque on the skin. However, we report on a unique case of intramuscular xanthoma found during blepharoplasty for the correction of ptosis. Read More

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http://e-acfs.org/journal/view.php?doi=10.7181/acfs.2018.020
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http://dx.doi.org/10.7181/acfs.2018.02068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325326PMC
December 2018
15 Reads

Gastric Xanthomas and Fundic Gland Polyps as Endoscopic Risk Indicators of Gastric Cancer.

Gut Liver 2019 Mar 15. Epub 2019 Mar 15.

Department of Gastroenterology and Hepatology, Sapporo Medical University, Sapporo, Japan.

Background/aims: Fundic gland polyps (FGPs), hyperplastic polyps (HPs) and xanthomas (XTs) are common benign gastric lesions that can be diagnosed by endoscopic appearance alone in most cases. The aim of this study was to evaluate associations between gastric cancer and these benign lesions.

Methods: Two expert endoscopists reviewed a series of gastroscopy images. Read More

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http://www.gutnliver.org/journal/view.html?doi=10.5009/gnl17
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http://dx.doi.org/10.5009/gnl17136DOI Listing
March 2019
10 Reads

Giant multiple xanthomas in familial hypercholesterolaemia.

Eur Heart J 2018 Dec 18. Epub 2018 Dec 18.

Division of Regeneration and Medicine, Medical Center for Translational and Clinical Research, Hiroshima University Hospital, Hiroshima, Japan.

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http://dx.doi.org/10.1093/eurheartj/ehy827DOI Listing
December 2018
2 Reads

Eruptive Xanthomas - Two Case Reports With Distinct Features.

Open Access Maced J Med Sci 2018 Nov 21;6(11):2152-2154. Epub 2018 Nov 21.

Institute of Pathology "Georg Schmorl", Städtisches Klinikum Dresden, Dresden, Germany.

Background: Eruptive xanthomas are rare and often asymptomatic. On the other hand, these cutaneous lesions are a red flag for serious underlying metabolic disorders that demand an early diagnosis to prevent morbidity and mortality.

Case Report: We report on two male patients, aged 23 and 27 years, who presented with eruptive xanthomas. Read More

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http://dx.doi.org/10.3889/oamjms.2018.458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290429PMC
November 2018
1 Read

Liver Transplantation for Homozygous Familial Hypercholesterolemia.

J Atheroscler Thromb 2019 Feb 15;26(2):121-127. Epub 2018 Dec 15.

Diabetes and Lifestyle-related Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association.

Pharmacological treatments to decrease low-density lipoprotein (LDL) cholesterol (LDL-C) have limited effects on patients with homozygous familial hypercholesterolemia (HoFH). Since LDL receptors are located mainly in the liver, liver transplantation is considered to be the only way to correct the hepatic cholesterol metabolism abnormalities in HoFH. Liver transplantations, including those combined with heart transplantation, for HoFH have been increasing since 1984, making this a globally established therapeutic option for HoFH. Read More

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http://dx.doi.org/10.5551/jat.RV17029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365147PMC
February 2019
2 Reads

Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start.

Neurology 2019 Jan 7;92(2):e83-e95. Epub 2018 Dec 7.

From the Department of Neurology (B.M.L.S.), Catharina Hospital, Eindhoven; Department of Neurology (B.M.L.S., A.V.), Canisius Wilhelmina Hospital, Nijmegen; Department of Pediatrics (H.H.H.), Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center-University Hospital, Rotterdam; Department of Neurology (B.P.C.v.d.W.), Donders Institute for Brain, Cognition and Behaviour (B.P.C.v.d.W., R.A.W.), and Department of Laboratory Medicine (L.A.J.K., R.A.W.), Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen; Department of Genetics (E.H.B.), University Medical Center Utrecht; Department of Internal Medicine (C.E.M.H.), Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam; Department of Internal Medicine (H.R.H.), Máxima Medical Center Eindhoven; Department of Internal Medicine (H.R.H.), Maastricht University Medical Center; and CAPHRI School for Public Health and Primary Care, Ageing and Long-Term Care (H.R.H.), Maastricht University, the Netherlands.

Objective: To evaluate the effect of chenodeoxycholic acid treatment on disease progression in cerebrotendinous xanthomatosis (CTX).

Methods: In this retrospective cohort study, we report the clinical long-term follow-up characteristics of 56 Dutch patients with CTX. Age at diagnosis was correlated with clinical characteristics and with the course of modified Rankin Scale (mRS) and Expanded Disability Status Scale (EDSS) scores at follow-up. Read More

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http://dx.doi.org/10.1212/WNL.0000000000006731DOI Listing
January 2019
2 Reads

Cerebrotendinous xanthomatosis: The rare "treatable" disease you never consider.

Neurology 2019 Jan 7;92(2):61-62. Epub 2018 Dec 7.

From the Department of Pediatrics and Neurology (G.V.R.), Division of Pediatric Neurology, Penn State Children's Hospital, Hershey, PA; and Institute of Metabolic Disease (R.S.), Baylor Scott & White Research Institute, Dallas, TX.

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http://dx.doi.org/10.1212/WNL.0000000000006721DOI Listing
January 2019
4 Reads

Probe-based confocal endomicroscopy is accurate for differentiating gastric lesions in patients in a Western center.

Chin J Cancer Res 2018 Oct;30(5):546-552

Endoscopy Unit of Department of Gastroenterology, São Paulo Cancer Institute, University of São Paulo Medical School (ICESP-HCFMUSP), São Paulo 01246-000, Brazil.

Objective: Probe-based confocal laser endomicroscopy (pCLE) technique may improve the diagnosis of gastric mucosal lesions allowing acquisition of high-resolution images at the cellular and microvascular levels. This study aims to evaluate the accuracy of pCLE for the differential diagnosis of non-neoplastic and neoplastic gastric lesions.

Methods: Twenty gastric mucosal lesions from 10 patients were evaluated during endoscopic procedure and were examined by pCLE. Read More

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http://www.cjcrcn.org/article/html_9831.html
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http://dx.doi.org/10.21147/j.issn.1000-9604.2018.05.08DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232359PMC
October 2018
17 Reads

Xanthogranulomatous reaction to trametinib for metastatic malignant melanoma.

Cutis 2018 Oct;102(4):283-286

Department of Dermatology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Trametinib, a mitogen-activated extracellular signal-regulated kinase (MEK) inhibitor, has demonstrated great promise in treating metastatic melanoma associated with BRAF V600E and V600K mutations; however, it also is highly associated with cutaneous adverse events (AEs). As both BRAF and MEK inhibitors become increasingly used to treat malignant melanoma, it is important to better characterize these AEs so that we can manage them. Herein, we present a case of a 66-year-old man who developed erythematous scaly papules on the face and bilateral upper extremities after beginning therapy with trametinib. Read More

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October 2018
14 Reads

Dermoscopic findings of pseudoxanthomatous mastocytosis localized on vulva.

An Bras Dermatol 2018 Nov/Dec;93(6):940-941

Department of Dermatology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China.

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http://dx.doi.org/10.1590/abd1806-4841.20188039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6256220PMC
February 2019
4 Reads

Atypical Fibroxanthoma Invading Parietal Bone.

Dermatol Surg 2018 12;44(12):1644-1646

Department of Dermatology, University Hospitals Cleveland Medical Center, Case Western Reserve University School of Medicine, Cleveland, Ohio.

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http://dx.doi.org/10.1097/DSS.0000000000001467DOI Listing
December 2018
3 Reads

Neuroimaging Applications in Chronic Ataxias.

Int Rev Neurobiol 2018 29;143:109-162. Epub 2018 Oct 29.

Nuclear Medicine, "Le Scotte" University Hospital, Siena, Italy.

Magnetic resonance imaging (MRI), single photon emission computed tomography (SPECT) and positron emission tomography (PET) are the main instruments for neuroimaging investigation of patients with chronic ataxia. MRI has a predominant diagnostic role in the single patient, based on the visual detection of three patterns of atrophy, namely, spinal atrophy, cortical cerebellar atrophy and olivopontocerebellar atrophy, which correlate with the aetiologies of inherited or sporadic ataxia. In fact spinal atrophy is observed in Friedreich ataxia, cortical cerebellar atrophy in Ataxia Telangectasia, gluten ataxia and Sporadic Adult Onset Ataxia and olivopontocerebellar atrophy in Multiple System Atrophy cerebellar type. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00747742183011
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http://dx.doi.org/10.1016/bs.irn.2018.09.011DOI Listing
October 2018
12 Reads

Achilles tendon thickening is associated with disease severity and plaque vulnerability in patients with coronary artery disease.

J Clin Lipidol 2019 Jan - Feb;13(1):194-200. Epub 2018 Oct 29.

Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan; Department of Cardiovascular Medicine, Kitasato University School of Medicine, Sagamihara, Japan.

Background: Tendon xanthomas are accumulations of collagen and macrophages, which contain cholesterol esters and a marker of high risk for coronary artery disease (CAD).

Objective: The aim of the article was to clarify whether the presence of Achilles tendon thickening (ATT) was associated with disease severity and plaque vulnerability in patients with CAD.

Methods: A total of 241 consecutive patients who underwent percutaneous coronary intervention and ATT assessment were analyzed. Read More

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http://dx.doi.org/10.1016/j.jacl.2018.10.007DOI Listing
October 2018
2 Reads

Additional pathways of sterol metabolism: Evidence from analysis of Cyp27a1-/- mouse brain and plasma.

Biochim Biophys Acta Mol Cell Biol Lipids 2019 Feb 22;1864(2):191-211. Epub 2018 Nov 22.

Swansea University Medical School, ILS1 Building, Singleton Park, Swansea SA2 8PP, UK. Electronic address:

Cytochrome P450 (CYP) 27A1 is a key enzyme in both the acidic and neutral pathways of bile acid biosynthesis accepting cholesterol and ring-hydroxylated sterols as substrates introducing a (25R)26-hydroxy and ultimately a (25R)26-acid group to the sterol side-chain. In human, mutations in the CYP27A1 gene are the cause of the autosomal recessive disease cerebrotendinous xanthomatosis (CTX). Surprisingly, Cyp27a1 knockout mice (Cyp27a1-/-) do not present a CTX phenotype despite generating a similar global pattern of sterols. Read More

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http://dx.doi.org/10.1016/j.bbalip.2018.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327153PMC
February 2019
17 Reads
5.162 Impact Factor

Xanthomas and xantelasmas in primary biliary cholangitis.

Med Clin (Barc) 2018 Nov 20. Epub 2018 Nov 20.

Servicio de Medicina Interna, Hospital México, San José, Costa Rica.

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http://dx.doi.org/10.1016/j.medcli.2018.10.003DOI Listing
November 2018
2 Reads

Recurrent tendosynovitis as a rare manifestation of a lipid disorder.

J Clin Lipidol 2019 Jan - Feb;13(1):54-61. Epub 2018 Oct 24.

Department of Internal Medicine V (Nephrology, Rheumatology, Hypertensiology, Endocrinolgy, Diabetology), Mannheim Medical Faculty, University of Heidelberg, Mannheim, Germany; Mannheim Institute of Public Health, Social and Preventive Medicine, Mannheim Medical Faculty, University of Heidelberg, Mannheim, Germany. Electronic address:

A 33-year-old female had suffered from spontaneously recurrent bursitis and tendosynovitis/enthesitis of the patellar and Achilles tendons for about 10 years. The episodes of immobilization increased. Ultrasound imaging of the swollen and painful tendons showed chronic inflammation with neoangiogenesis within the tendons and hypoechoic lesions. Read More

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http://dx.doi.org/10.1016/j.jacl.2018.10.005DOI Listing
October 2018
4 Reads

Halo formations around senile hemangiomas in diffuse plane normolipemic xanthomatosis associated with monoclonal gammopathy.

JAAD Case Rep 2018 Nov 10;4(10):1034-1036. Epub 2018 Nov 10.

Department of Dermatology, Sapporo Medical University School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1016/j.jdcr.2018.08.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232699PMC
November 2018
5 Reads

Eruptive xanthomas in a patient with soft-drink diabetic ketosis and apolipoprotein E4/2.

Endocr J 2019 Jan 2;66(1):107-114. Epub 2018 Nov 2.

Department of Diabetes and Metabolism, Tohoku University Hospital, Sendai, Miyagi 980-8575, Japan.

Soft-drink diabetic ketosis, characterized by acute onset ketosis induced by excessive ingestion of sugar-containing drinks, is often seen in obese, young patients, even with undiagnosed type 2 diabetes. We herein report a 15-year-old obese patient with the apolipoprotein E4/2 phenotype, in whom eruptive xanthomas lead to a diagnosis of soft-drink diabetic ketosis. He developed multiple asymptomatic yellowish papules on the auricles, back, buttocks and the extensor surfaces of the elbows and knees. Read More

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https://www.jstage.jst.go.jp/article/endocrj/advpub/0/advpub
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http://dx.doi.org/10.1507/endocrj.EJ18-0356DOI Listing
January 2019
22 Reads

Normolipemic Xanthomas in a Patient with Underlying Plasma Cell Dyscrasia.

Indian J Hematol Blood Transfus 2018 Oct 4;34(4):745-746. Epub 2018 Jun 4.

3Division of Hematology and Oncology, University of Arizona Cancer Center, PO Box 245024, 1515 N. Campbell Ave., Tucson, USA.

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http://link.springer.com/10.1007/s12288-018-0972-7
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http://dx.doi.org/10.1007/s12288-018-0972-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186259PMC
October 2018
14 Reads

Treatment of Grade I and II types of xanthelasma palpebrarum with intralesional heparin sodium.

Dermatol Ther 2018 11 24;31(6):e12723. Epub 2018 Oct 24.

Department of Dermatology, Zhongshan Hospital Xiamen University, Xiamen, Fujian, China.

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http://dx.doi.org/10.1111/dth.12723DOI Listing
November 2018

Inflammasome Activation Aggravates Cutaneous Xanthomatosis and Atherosclerosis in ACAT1 (Acyl-CoA Cholesterol Acyltransferase 1) Deficiency in Bone Marrow.

Arterioscler Thromb Vasc Biol 2018 Nov;38(11):2576-2589

From the Division of Endocrinology and Metabolism, Department of Internal Medicine (T.W., M.T., D.Y., A.T., S.T., H.Y., S.N., K.E., S.I.), Jichi Medical University, Shimotsuke, Japan.

Objective- ACAT1 (Acyl-CoA cholesterol acyltransferase 1) esterifies cellular free cholesterol, thereby converting macrophages to cholesteryl ester-laden foam cells in atherosclerotic lesions and cutaneous xanthoma. Paradoxically, however, loss of ACAT1 in bone marrow causes the aggravation of atherosclerosis and the development of severe cutaneous xanthoma in hyperlipidemic mice. Recently, it has been reported that cholesterol crystals activate NLRP3 (NACHT, LRR [leucine-rich repeats], and PYD [pyrin domain] domain-containing protein 3) inflammasomes, thereby contributing to the development of atherosclerosis. Read More

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http://dx.doi.org/10.1161/ATVBAHA.118.311648DOI Listing
November 2018
3 Reads

Palmar crease xanthomas in familial hypercholesterolemia.

Int J Dermatol 2019 Apr 24;58(4):491-492. Epub 2018 Oct 24.

Department of Dermatology, Venereology and Leprology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.1111/ijd.14277DOI Listing
April 2019
1 Read

Bilateral xanthomas of tendoachilles in a slow learner adolescent - A rare case report of van bogaert scherer epstein disease.

Med J Malaysia 2018 Oct;73(5):321-322

Hospital Kulim, Department of Orthopaedics, Kulim, Kedah, Malaysia.

Van Bogaert Scherer Epstein Disease is a rare autosomal recessive condition involving abnormal deposition of cholesterol and cholestanol in various parts of body, various clinical symptoms manifest on different age group, significantly neurological impairment in late presentation. We are reporting a slow learner young lady presented with bilateral painless ankle swelling, our initial clinical impression were torn Achilles tendon or Haglund's deformity. On further detail history taking, it leads us towards this disease and confirmed with biopsy. Read More

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October 2018

Cholesteryl ester transfer protein: An enigmatic pharmacology - Antagonists and agonists.

Atherosclerosis 2018 Nov 1;278:286-298. Epub 2018 Oct 1.

Centro Dislipidemie, A.S.S.T. Grande Ospedale Metropolitano Niguarda, Milan, Italy.

The cholesteryl ester transfer protein (CETP) system moves cholesteryl esters (CE) from high density lipoproteins (HDL) to lower density lipoproteins, i.e. very low-density lipoprotein (VLDL) and low-density lipoprotein (LDL) in exchange for triglycerides (TGs). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00219150183140
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http://dx.doi.org/10.1016/j.atherosclerosis.2018.09.035DOI Listing
November 2018
13 Reads

Verruciform xanthoma overlying inflammatory linear verrucous epidermal nevus and in broad segmental distribution.

BMJ Case Rep 2018 Oct 17;2018. Epub 2018 Oct 17.

Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.

A 17-year-old woman presented with moderately itchy, non-progressive, linearly arranged verrucous plaques over dorsum of left foot since early childhood. Two years ago, she developed slowly increasing, verrucous exophytic growth in posterior most aspect of linear verrucous plaque. One year ago, she also developed multiple, linearly arranged, fleshy plaques with surface crusting over lateral aspect of right leg extending to thigh. Read More

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http://dx.doi.org/10.1136/bcr-2018-225964DOI Listing
October 2018
3 Reads

Early severe coronary heart disease and ischemic heart failure in homozygous familial hypercholesterolemia: A case report.

Medicine (Baltimore) 2018 Oct;97(42):e12869

Department of Cardiology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders.

Rationale: Familial hypercholesterolemia (FH) is a common inherited cause of coronary heart disease (CHD) and premature death in an early age. Nevertheless, an ischemic heart failure (IHF) associated with FH seems to be rare, and an early diagnosis and therapy could influence the prognosis.

Patient Concerns: In this 13-year-old girl, multiple xanthomas began to develop from the first day of birth. Read More

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http://Insights.ovid.com/crossref?an=00005792-201810190-0006
Publisher Site
http://dx.doi.org/10.1097/MD.0000000000012869DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211926PMC
October 2018
7 Reads
5.720 Impact Factor

Replacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognition.

PLoS One 2018 17;13(10):e0204771. Epub 2018 Oct 17.

Instituto Biofisika (UPV/EHU, CSIC) and Departamento de Bioquímica, Universidad del País Vasco, Bilbao, Spain.

Background And Aims: Pathogenic mutations in the Low Density Lipoprotein Receptor gene (LDLR) cause Familial Hypercholesterolemia (FH), one of the most common genetic disorders with a prevalence as high as 1 in 200 in some populations. FH is an autosomal dominant disorder of lipoprotein metabolism characterized by high blood cholesterol levels, deposits of cholesterol in peripheral tissues such as tendon xanthomas and accelerated atherosclerosis. To date, 2500 LDLR variants have been identified in the LDLR gene; however, only a minority of them have been experimentally characterized and proven to be pathogenic. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0204771PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6192581PMC
March 2019
4 Reads

Xanthogranuloma of the sellar region: A rare tumor. Case illustration and literature review.

J Clin Neurosci 2019 Jan 14;59:318-324. Epub 2018 Oct 14.

Institute of Neurosurgery, Catholic University School of Medicine, Rome, Italy.

Xanthogranulomas are rare intracranial lesions with controversial etiology. The sellar location is exceedingly rare. Here we report a clinical case and a review of the English-language literature of histologically confirmed xanthogranulomas in order to furnish useful tools in diagnosis and management of this unusual disease. Read More

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http://dx.doi.org/10.1016/j.jocn.2018.10.019DOI Listing
January 2019
3 Reads

Neck xanthogranuloma mimicking malignancy in a patient with diabetes mellitus: A case report and literature review.

Medicine (Baltimore) 2018 Oct;97(40):e12615

Department of Otolaryngology, Head and Neck Surgery, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan.

Rationale: Xanthogranulomatous inflammation (XGI) is a rare inflammatory process, which mostly affects the kidney and gallbladder. It usually simulates an aggressive neoplastic process. Occurrences in the neck are extremely rare and would usually be associated with a preexisting cyst or glandular tissues. Read More

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http://Insights.ovid.com/crossref?an=00005792-201810050-0004
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http://dx.doi.org/10.1097/MD.0000000000012615DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6200551PMC
October 2018
9 Reads

Psychiatric Disorders Secondary to Neurometabolic Disorders.

Rev Colomb Psiquiatr 2018 Oct - Dec;47(4):244-251. Epub 2017 Jun 17.

Service Universitaire de Psychiatrie de l'Enfant et de l'Adolescent, Université de Nantes, Nantes, Francia.

Some diseases secondary to inborn errors of metabolism are associated with psychiatric disorders or minor neurological symptoms. The existence of some cases with exclusively psychiatric symptoms represents a diagnostic and therapeutic challenge. The aim of this article is to describe seven treatable neurometabolic disorders that should be taken into account in the psychiatric consultation as they manifest with psychiatric symptoms that mask the organic origin of the disorder. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00347450173006
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http://dx.doi.org/10.1016/j.rcp.2017.05.004DOI Listing
December 2018
8 Reads

Cerebrotendinous xanthomatosis presenting with extensive cerebral cortex symptoms: A case report.

Clin Neurol Neurosurg 2018 Nov 20;174:217-219. Epub 2018 Sep 20.

Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1, Honjo, Chuo-ku, Kumamoto 860-8556, Japan. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03038467183039
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http://dx.doi.org/10.1016/j.clineuro.2018.09.028DOI Listing
November 2018
26 Reads

The development of the Mexican Familial Hypercholesterolemia (FH) National Registry.

Atherosclerosis 2018 Oct;277:517-523

Unidad de Investigación de Enfermedades Metabólicas, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico; Departamento de Endocrinología y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico; Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Mexico. Electronic address:

Background And Aims: In Mexico, familial hypercholesterolemia (FH) is, as in other parts of the world, largely underdiagnosed and undertreated, and represents a significant burden to the healthcare system. However, there is not enough information to design public policies against the disease. Genetic studies have shown that LDLR mutations are the most common cause, but in a large percentage of the cases, no mutation has been identified in the FH genes. Read More

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http://dx.doi.org/10.1016/j.atherosclerosis.2018.06.007DOI Listing
October 2018
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Prevalence of familial hypercholesterolemia in patients with acute coronary syndrome in Japan: Results of the EXPLORE-J study.

Atherosclerosis 2018 Oct;277:362-368

Division of Cardiovascular Medicine, Toho University Ohashi Medical Center, 2-17-6 Ohashi Meguro, Tokyo, 153-8515, Japan. Electronic address:

Background And Aims: Prevalence of familial hypercholesterolemia (FH), a common genetic disorder with a high risk for coronary artery disease (CAD), is high among CAD patients; however, data on FH prevalence among acute coronary syndrome (ACS) patients are limited. EXPLORE-J is the largest registry to diagnose FH among Japanese ACS patients using the 2012 Japan Atherosclerosis Society guidelines.

Methods: This prospective study consecutively recruited patients between April 2015 and August 2016 at 59 sites. Read More

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http://dx.doi.org/10.1016/j.atherosclerosis.2018.06.856DOI Listing
October 2018
11 Reads

Tidig diagnos och behandling med gallsyra avgörande vid cerebrotendinös xantomatos.

Lakartidningen 2018 09 20;115. Epub 2018 Sep 20.

Karolinska Institutet - Laboratoriemedicin Huddinge, Sweden Karolinska Institutet - Laboratoriemedicin Huddinge, Sweden.

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September 2018
5 Reads

Lipid-Related Lesions in Quaker Parrots ( Myiopsitta monachus).

Vet Pathol 2019 03 24;56(2):282-288. Epub 2018 Sep 24.

4 Department of Pathobiology, Ontario Veterinary College, University of Guelph, Guelph, ON, Canada.

The Quaker parrot has been used as a psittacine model to study clinical lipidology and lipid-related disorders. However, while Quaker parrots appear to be anecdotally susceptible to a variety of spontaneous dyslipidemic disorders and lesions caused by excess lipid accumulation, epidemiologic data are lacking. A multicenter retrospective study on 652 pathology submissions (411 necropsies and 243 biopsies) from Quaker parrots was performed by recording the final pathological diagnoses, age, and sex for each bird. Read More

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http://dx.doi.org/10.1177/0300985818800025DOI Listing
March 2019
1 Read

Two-year-old girl with tuberous xanthomas.

J Clin Pathol 2018 10;71(10):860-862

Medical School, University of Valencia, Valencia, Spain.

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http://dx.doi.org/10.1136/jclinpath-2017-204818DOI Listing
October 2018
2 Reads

Verruciform Xanthoma with Equivocal Exfoliative Cytological Diagnosis.

Bull Tokyo Dent Coll 2018 ;59(3):193-200

Department of Oral and Maxillofacial Surgery, Tokyo Dental College.

Verruciform xanthoma (VX), a papillary or wart-like lesion of the mucosa, is histopathologically characterized by papillary projection of the epithelium and an aggregation of foam cells in the lamina propria. Here, we describe a case of VX in the posterior mandibular gingiva, initially suspected to be a benign lesion based on clinical findings and cytology prior to an excisional biopsy. The patient was a 62-year-old man who had visited a local dentist approximately 1 year earlier, presenting with a white lesion in the left posterior mandibular gingiva that resisted removal by scraping. Read More

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http://dx.doi.org/10.2209/tdcpublication.2017-0034DOI Listing
February 2019
4 Reads

Rare cause of gastric outlet obstruction: xanthogranulomatous cholecystitis.

BMJ Case Rep 2018 Sep 10;2018. Epub 2018 Sep 10.

Department of Surgery, Urology Division, University College of Medical Sciences, New Delhi, India.

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22658
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http://dx.doi.org/10.1136/bcr-2018-226580DOI Listing
September 2018
14 Reads

Xanthomatous meningioma: A metaplastic or degenerative phenomenon?

Neuropathology 2018 Dec 5;38(6):619-623. Epub 2018 Sep 5.

Division of Neurosurgery, Department of Surgery, Universiti Kebangsaan Malaysia Medical Centre, Jalan Yaacob Latiff, Bandar Tun Razak, Kuala Lumpur, Malaysia.

Xanthomatous changes can be observed in various conditions including primary xanthomatosis that is linked to an underlying hypercholesterolemia and more commonly associated with secondary xanthomatous degenerative processes in neoplasm and chronic inflammation. Meningioma with extensive xanthomatous change is exceedingly rare. The presence of cholesterol clefts within this peculiar meningioma subtype has not been described. Read More

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http://doi.wiley.com/10.1111/neup.12511
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http://dx.doi.org/10.1111/neup.12511DOI Listing
December 2018
31 Reads

Familial Chylomicronemia Syndrome: A Clinical Guide For Endocrinologists.

Authors:
James M Falko

Endocr Pract 2018 08;24(8):756-763

Objective: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder caused by mutations in lipoprotein lipase, resulting in accumulation of chylomicrons in plasma and hypertriglyceridemia. Elevated triglycerides cause several complications in patients, the most serious being episodes of acute pancreatitis. This review focuses on expert guidance and opinion from an experienced lipidologist and endocrinologist as well as a current review of the literature, as there are no specific guidelines on FCS. Read More

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http://dx.doi.org/10.4158/EP-2018-0157DOI Listing
August 2018
4 Reads