6,336 results match your criteria Xanthomas


J Zoo Wildl Med 2022 Jun;53(2):470-479

Department of Medicine and Epidemiology and Karen C. Drayer Wildlife Health Center, University of California Davis School of Veterinary Medicine, Davis, CA 95616, USA.

Xanthomas are localized lipid deposits in organs with associated granulomatous inflammation. Xanthomatosis is a rare condition in both human and veterinary medicine and is often linked to inherited or acquired dyslipidemias. Three female yellow-footed rock wallabies () at a single institution were diagnosed via biopsy with cutaneous xanthomas secondary to hypertriglyceridemia and hypercholesterolemia, and an additional two female yellow-footed rock wallabies were diagnosed with xanthomas at a second institution. Read More

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J Zoo Wildl Med 2022 Jun;53(2):433-441

Biomedical Diagnostic Services, Knoxville, TN 37996, USA.

This retrospective study reviews the diseases associated with morbidity and mortality in 221 budgerigars () from a captive population from 2013 to 2019. The study aimed to evaluate the health status of a flock of budgerigars typical of today's zoologic collections. Based on previous literature, it was hypothesized that age-related conditions such as neoplasia would be common, whereas metabolic and nutritional disorders would be less common. Read More

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A Clinical Case of a Homozygous Deletion in the Gene with Severe Hypertriglyceridemia.

Genes (Basel) 2022 Jun 14;13(6). Epub 2022 Jun 14.

Research Centre for Medical Genetics, Moskvorechye Street, 1, 115522 Moscow, Russia.

Background: Hypertriglyceridemia (HTG) is one of the most common forms of lipid metabolism disorders. The leading clinical manifestations are pancreatitis, atherosclerotic vascular lesions, and the formation of eruptive xanthomas. The most severe type of HTG is primary (or hereditary) hypertriglyceridemia, linked to pathogenic genetic variants in , , and genes. Read More

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Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.

Genes (Basel) 2022 Jun 1;13(6). Epub 2022 Jun 1.

Department of Genetics, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland.

The most common form of inherited lipid disorders is familial hypercholesterolemia (FH). It is characterized primarily by high concentrations of the clinical triad of low-density lipoprotein cholesterol, tendon xanthomas and premature CVD. The well-known genetic background are mutations in , and gene. Read More

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An Unusual Case of a Gastric Xanthoma: A Case Report.

Cureus 2022 May 15;14(5):e25026. Epub 2022 May 15.

Gastroenterology, University of South Florida Health Morsani College of Medicine/Lehigh Valley Health Network, Allentown, USA.

Gastric xanthomas are rare tumor-like lesions, most commonly occurring in the antral region. We set out to describe a patient with a history of Barrett's esophagus status post two radiofrequency ablations (RFAs) and an endoscopic mucosal resection (EMR) who developed a gastric xanthoma just below the Z-line with recurrent esophageal metaplasia. Histopathological confirmation of xanthomas are needed to rule out malignancy. Read More

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Dyslipidemia in Patients with Xanthelasma Palpebrarum Visiting the Department of Dermatology of a Tertiary Care Centre: A Descriptive Cross-sectional Study.

JNMA J Nepal Med Assoc 2022 Jun 1;60(250):529-532. Epub 2022 Jun 1.

Department of Dermatology, Nobel Medical College and Teaching Hospital, Kanchanbari, Biratnagar, Nepal.

Introduction: Xanthelasma palpebrarum refers to lipid deposition that occurs on eyelids and inner canthi. It is an important cutaneous manifestation of hyperlipidemia, atherosclerosis and coronary artery disease. Few studies have been done in Nepal regarding lipid abnormality in xanthelasma patients. Read More

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Eruptive Xanthomas.

N Engl J Med 2022 06;386(22):e58

Shanghai Skin Disease Hospital of Tongji University, Shanghai, China

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Multiple papular xanthomas mimicking juvenile xanthogranulomas in an infant: A case report and review of the literature.

J Cutan Pathol 2022 May 30. Epub 2022 May 30.

Department of Dermatology, University of Florida College of Medicine, Gainesville, Florida, USA.

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Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure.

Pediatr Transplant 2022 May 28:e14318. Epub 2022 May 28.

Institut für Pathologie, Medizinische Universität Graz, Österreich, Austria.

Background: Cerebrotendinous xanthomatosis (CTX) is a disorder of bile acid (BA) metabolism due to biallelic mutations in CYP27A1. The deposition of cholesterol and cholestanol in multiple tissues results, manifesting as neurologic disease in adults or older children. Neonatal cholestasis (NC) as a presentation of CTX is rare; it may self-resolve or persist, evolving to require liver transplantation (LT). Read More

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A Selective Screening Strategy Performed in Pre-School Children and Siblings to Detect Familial Hypercholesterolemia.

Children (Basel) 2022 Apr 21;9(5). Epub 2022 Apr 21.

Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Medical University of Vienna, 1090 Vienna, Austria.

(1) Background: Familial hypercholesterolemia (FH), a most common genetic disorder, is underdiagnosed and untreated, especially in children. Individuals with heterozygous familial hypercholesterolemia mostly present without clinical symptoms and are not informed about their high risk for myocardial infarction. Early diagnosis and treatment can prevent premature atherosclerosis and cardiovascular events in patients with FH. Read More

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Eruptive Xanthomas with Branching Projections.

N Engl J Med 2022 06 28;386(22):2129. Epub 2022 May 28.

Sir Run Run Shaw Hospital of Zhejiang University, Hangzhou, China

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Topical Simvastatin Improves Lesions of Diffuse Normolipemic Plane Xanthoma by Inhibiting Foam Cell Pyroptosis.

Front Immunol 2022 10;13:865704. Epub 2022 May 10.

Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Xanthoma pathogenesis is speculated to be associated with oxidized low-density lipoprotein (ox-LDL) deposition, although this remains unclear. Most patients with diffuse plane xanthomas present elevated blood lipid levels, and they benefit from treatment with oral lipid-lowering agents. However, there is no available treatment for diffuse normolipemic plane xanthoma (DNPX). Read More

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Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report.

BMC Neurol 2022 May 25;22(1):193. Epub 2022 May 25.

Department of Internal Medicine III, Division of Neurology and Clinical Neuroscience, Yamagata University Faculty of Medicine, 2-2-2 Iida-nishi, Yamagata, 990-9585, Japan.

Background: Cerebrotendinous xanthomatosis (CTX) is an autosomal-recessive lipid storage disorder caused by mutations in the CYP27A1 gene encoding the key enzyme in the bile acid synthesis, sterol 27-hydroxylase. Here, we report two Japanese CTX siblings with a novel compound heterozygous CYP27A1 mutation, showing different clinical phenotypes and responses to chenodeoxycholic acid (CDCA) therapy.

Case Presentation: The proband, a 32-year-old man, who had chronic diarrhea, bilateral cataracts, and xanthomas, demonstrated progressive neurological manifestations including ataxia, and spastic paraplegia during a 5-year follow-up period despite normalization of serum cholestanol after initiation of CDCA treatment. Read More

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Treatment of Familial Hypercholesterolemia with Intracranial Xanthoma: Case Report.

Front Surg 2022 3;9:875422. Epub 2022 May 3.

Department of Neurosurgery, West China Hospital, Si chuan University Chengdu, China.

Intracranial xanthoma is a rare benign intracranial tumor. It often occurs in patients with hyperlipidemia. Intracranial xanthomas grow slowly, and clinical symptoms only appear when the mass compresses the surrounding tissues, so early diagnosis of the disease is difficult. Read More

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Xanthogranulomatous salpingo-oophoritis presenting as an ovarian tumour.

BMJ Case Rep 2022 May 19;15(5). Epub 2022 May 19.

Gynecology, Centro Hospitalar de Vila Nova de Gaia Espinho EPE, Vila Nova de Gaia, Portugal.

Xanthogranulomatous salpingo-oophoritis (XGSO) is an exceptionally rare entity. Its clinical manifestations and imaging modalities can mimic benign and malignant adnexal diseases, making it difficult to diagnose. Here we report a case of XGSO in a young woman who was operated with suspicion of a borderline ovarian tumour. Read More

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Lack of ApoA-I in ApoEKO Mice Causes Skin Xanthomas, Worsening of Inflammation, and Increased Coronary Atherosclerosis in the Absence of Hyperlipidemia.

Arterioscler Thromb Vasc Biol 2022 Jul 19;42(7):839-856. Epub 2022 May 19.

Department of Pharmacological and Biomolecular Sciences (M.B., S.M., A.C., E.F., F.B., R.O., A.L., G.D.N., G.C.), Università degli Studi di Milano, Italy.

Background: HDL (high-density lipoprotein) and its major protein component, apoA-I (apolipoprotein A-I), play a unique role in cholesterol homeostasis and immunity. ApoA-I deficiency in hyperlipidemic, atheroprone mice was shown to drive cholesterol accumulation and inflammatory cell activation/proliferation. The present study was aimed at investigating the impact of apoA-I deficiency on lipid deposition and local/systemic inflammation in normolipidemic conditions. Read More

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[The role of metformin in the treatment of dermatological diseases: A narrative review].

Aten Primaria 2022 Jun 12;54(6):102354. Epub 2022 May 12.

Health Research Group GIIS100 of Health Research Institute IIS Aragón, Zaragoza, España; Servicio de Dermatología y Venereología, Hospital Clínico Universitario Miguel Servet, Zaragoza, España.

Objetive: To review and discuss the current evidence of the use of metformin as a therapeutic tool in frequent skin diseases.

Design: Original article. Qualitative research. Read More

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Screening of and Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program.

Circ Genom Precis Med 2022 Jun 12;15(3):e003390. Epub 2022 May 12.

Laboratory of Genetics and Molecular Cardiology (LIM13) (M.T.T., I.R.L., T.G.M.O., C.E.J., J.E.K., A.C.P.), University of São Paulo Medical School Hospital.

Background: Sitosterolemia is a rare autosomal recessive disorder caused by homozygous or compound heterozygous variants in . The disease is characterized by increased plasma plant sterols. Small case series suggest that patients with sitosterolemia have wide phenotypic heterogeneity with great variability on either plasma cholesterol levels or development of atherosclerotic cardiovascular disease. Read More

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[Genetic diseases of lipid metabolism - Focus familial hypercholesterolemia].

Dtsch Med Wochenschr 2022 Apr 11;147(10):e50-e61. Epub 2022 May 11.

Congenital disorders of lipid metabolism are characterised by LDL-C concentrations > 190 mg/dl (4.9 mM) and/or triglycerides > 200 mg/dl (2.3 mM) in young individuals after having excluded a secondary hyperlipoproteinemia. Read More

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[Familial chylomicronemia syndrome: pediatric experience in Argentina].

Arch Argent Pediatr 2022 06;120(3):e123-e127

Hospital Público Materno Infantil, Salta, Argentina.

Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease, prevalence 1:200,000 - 1:1,000,000, and is characterized by fasting chylomicrons and very high triglycerides > 880 mg/dl. LPL is the most frequently affected gene, then APOC2, GPIHBP1, APOA5, LMF1, all of them compromising the function of lipoproteinlipase. FCS commonly presents in childhood with recurrent abdominal pain, eruptive xanthomas, failure to thrive, pancreatitis, and sometimes asymptomatic. Read More

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Eruptive xanthomas as a marker for metabolic disorders: A specific form of xanthoma that reflects hypertriglyceridemia.

Clin Case Rep 2022 Apr 21;10(4):e05671. Epub 2022 Apr 21.

Division of Endocrinology and Metabolism Department of Internal Medicine Kurume University School of Medicine Fukuoka Japan.

Eruptive xanthomas are skin manifestations associated with hypertriglyceridemia. Accordingly, the improvement of hypertriglyceridemia can ameliorate this condition. We report a case of a patient with type 2 diabetes mellitus who was diagnosed with this skin lesion. Read More

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An update on lipid apheresis for familial hypercholesterolemia.

Pediatr Nephrol 2022 Apr 25. Epub 2022 Apr 25.

Pediatric Nephrology, Faculty of Medicine, Children's and Adolescents' Hospital, University Hospital of Cologne, University of Cologne, Cologne, Germany.

Familial hypercholesterolemia (FH) is an inherited metabolic defect leading to increased total cholesterol and low-density cholesterol (LDL) from birth onwards. Homozygous FH, presenting with clear clinical features, has a prevalence of ~ 1 per million. Prevalence of heterozygous FH is 1/500 European population. Read More

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A case of cerebrotendinous xanthomatosis with brain and spinal involvement without tendon xanthomas: Identification of a novel mutation of the CYP27A1 gene.

J Clin Lipidol 2022 May-Jun;16(3):281-285. Epub 2022 Apr 3.

Department of Neurology, 417 Army Share Fund Hospital, 10-12 Monis Petraki Str., PO 11521, Athens, Greece.

Cerebrotendinous xanthomatosis (CTX) is a rare inherited disorder of the alternative pathway of bile acid biosynthesis, due to mutation(s) of the gene CYP27A1, leading to sterol 27-hydroxylase deficiency. The latter results in a systematic deposition of cholestanol and cholesterol to the central nervous system and tendons, premature cataract, as well as the manifestation of systematic symptoms, such as chronic diarrhea, osteoporosis, and premature atherosclerosis. Due to its marked clinical heterogeneity, prompt diagnosis of this disorder is challenging. Read More

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Gastric Xanthomatosis Secondary to Lipoprotein X in Primary Biliary Cholangitis.

J Investig Med High Impact Case Rep 2022 Jan-Dec;10:23247096221089488

The University of Alabama at Birmingham, USA.

Primary biliary cholangitis (PBC) is a rare autoimmune disease characterized by intralobular bile duct destruction. Patients typically present with generalized symptoms including fatigue and pruritis, and less commonly, manifestations of lipid deposition including xanthomas and xanthelasmas. We report a case of a 31-year-old female with PBC-associated cirrhosis who had cutaneous xanthelasmas and diffuse gastric xanthomas secondary to hyperlipidemia and lipoprotein X that completely resolved following liver transplantation. Read More

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Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.

Neurogenetics 2022 Apr 9. Epub 2022 Apr 9.

Movement Disorders Centre, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada.

The syndromic group of hereditary spastic paraplegias has a heterogeneous clinical profile and a broad differential diagnosis, including neurometabolic disorders that are potentially treatable. This group includes 5,10-methylenetetrahydrofolate reductase deficiency, cobalamin C deficiency disease, dopamine responsive dystonia, cerebrotendinous xanthomatosis, biotinidase deficiency, GLUT1 deficiency syndrome, delta-e-pyrroline-carboxylase-synthetase deficiency, hyperonithinemia-hyperammonemia-homocitrullinuria syndrome, arginase deficiency, multiple carboxylase deficiency, and X-linked adrenoleukodystrophy. This review describes these diseases in detail, highlighting the importance of early diagnosis and effective treatment aiming at preserving functionality and quality of life in these patients. Read More

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Difficult Journey to Find the Best Treatment for Homozygous Familial Hypercholesterolemia: Case Report.

Int Med Case Rep J 2022 21;15:97-103. Epub 2022 Mar 21.

Department of Pediatric Intensive Medicine, Children's Hospital of Xi'an Jiaotong University, Xi'an, People's Republic of China.

Homozygous familial hypercholesterolemia (HoFH) is a rare autosomal recessive genetic disorder. It is difficult to diagnose and treat it at early stage. We present a nine-year-old boy with HoFH from China. Read More

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Systemic therapy of necrobiotic xanthogranuloma: a systematic review.

Orphanet J Rare Dis 2022 03 24;17(1):132. Epub 2022 Mar 24.

Department of Dermatology, University Medical Center Regensburg, Franz-Josef-Strauß-Allee 11, 93053, Regensburg, Germany.

Background: Even though a plethora of systemic therapies have been proposed for necrobiotic xanthogranuloma (NXG), there is no systematic review on this topic in literature.

Objective: To review all existing literature on the systemic therapy of NXG in order to identify the most effective therapies.

Methods: All reported papers in the literature were screened for systemic treatments of NXG. Read More

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Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of Gene Causing Lipoprotein Lipase Deficiency.

Front Genet 2022 3;13:831133. Epub 2022 Mar 3.

Department of Endocrinology and Metabolism, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Lipoprotein lipase deficiency (LPLD) is a rare disease characterized by the accumulation of chylomicronemia with early-onset. Common symptoms are abdominal pain, hepatosplenomegaly, eruptive xanthomas and lipemia retinalis. Serious complications include acute pancreatitis. Read More

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