5,916 results match your criteria Xanthelasma


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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Erdheim-Chester disease and vemurafenib: a review of ophthalmic presentations and clinical outcomes.

Orbit 2022 Jun 15:1-12. Epub 2022 Jun 15.

Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, California, USA.

Purpose: To provide a comprehensive review of ocular and orbital manifestations of Erdheim-Chester Disease (ECD) and compare clinical outcomes with vemurafenib (INN) to historical treatments (HT). Primary outcomes are ophthalmic findings on presentation, changes in visual acuity, and mortality rate. Secondary outcomes include the progression of ocular findings, systemic involvements, and treatment modalities. 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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Steroid induced hypertriglyceridemia in pregnant waman with immune thrombocytopenia - case report.

Ann Med Surg (Lond) 2022 May 15;77:103636. Epub 2022 Apr 15.

Endocrine Unit, Internal Medicine Department, KFMMC, Dhahran, 31932, Saudi Arabia.

Background: Hypertriglyceridemia is a medical condition defined as fasting triglyceride level more than 150 mg/dl. It could be due to either familial or acquired cause as in obesity, metabolic syndrome, diabetes mellitus type 2, alcohol consumption, decrease exercise or drug affects. Drugs such as corticosteroids rarely induced hypertriglyceridemia, for that we are reporting this case. Read More

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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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Cyclin D1 expression and molecular genetic findings in periocular histiocytoses and neoplasms of macrophage-dendritic cell lineage.

Am J Ophthalmol 2022 May 17. Epub 2022 May 17.

Department of Pathology, Wills Eye Hospital, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA; Department of Ophthalmology, Wills Eye Hospital, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.

Purpose: Frequent activating mutations in the mitogen-activated protein kinase (MAPK) pathway genes have been identified in histiocytoses. MAPK signaling consistently upregulates Cyclin D1. The goal of this study was to determine whether Cyclin D1 expression by immunohistochemistry is a useful diagnostic marker for periocular histiocytoses and to further characterize their genetic basis. 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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Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous Mutation.

Front Cardiovasc Med 2022 26;9:887618. Epub 2022 Apr 26.

Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, Fuzhou, China.

Sitosterolemia (OMIM ##210250), also known as phytosterolemia, is a rare autosomal recessive disorder caused by mutations in the ATP-binding cassette subfamily G member 5 () or member 8 () genes. This leads to abnormal functions of the transporter sterolin-1 protein encoded by G5 and sterolin-2 protein encoded by G8, respectively, which can hinder the formation of stable / heterodimers, decreasing its ability to transport sterols. As a result, phytosterols in tissue or plasma are significantly increased, leading to early onset atherosclerosis-related diseases and xanthelasma of tendons and skin. Read More

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The association of xanthelasma palpebrum with cardiovascular events: systematic review with meta-analysis.

Eur J Prev Cardiol 2022 May 13. Epub 2022 May 13.

Laboratório de Farmacologia Clínica e Terapêutica, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.

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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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Clinical association between serum cholesterol level and the size of xanthelasma palpebrarum.

Arch Craniofac Surg 2022 Apr 20;23(2):71-76. Epub 2022 Apr 20.

Department of Plastic and Reconstructive Surgery, Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea.

Background: Xanthelasma palpebrarum (XP) is a benign periorbital lesion. The relationship between xanthelasma lesion size and serum cholesterol levels has been poorly studied. In this study, we investigated this relationship in the context of the clinical etiology of XP. 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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Extensive papulonodular xanthoma: a diagnostic clue to homozygous familial hyperlipidaemia.

BMJ Case Rep 2022 Mar 16;15(3). Epub 2022 Mar 16.

Department of Burns & Plastic Surgery, AIIMS Bhubaneswar, Bhubaneswar, Orissa, India.

A man in his early 30s, presented with multiple soft tissue swellings over the buttocks, around the knees, ankles and dorsum of both the hands since childhood. His father and paternal uncle had similar lesions, and his father had coronary artery disease. One of his sisters had a history of sudden death due to an unknown cause at 14 years. Read More

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Image characteristics of xanthomatosis in reflection confocal microscopy.

Asian J Surg 2022 06 5;45(6):1270-1271. Epub 2022 Mar 5.

Department of Dermatology, People's Hospital of Inner Mongolia Autonomous Region, China.

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Multiple verruciform xanthoma arising on inflammatory linear verrucous epidermal nevi with the subsequent development of oral and genital lesions.

J Dermatol 2022 06 16;49(6):e187-e188. Epub 2022 Feb 16.

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

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