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    The triad of pruritus, xanthomas, and cholestasis: Two cases and a brief review of the literature.
    Pediatr Dermatol 2017 Nov;34(6):e305-e308
    University of Mississippi Medical Center, Jackson, MS, USA.
    When encountered in children, xanthomas are most commonly associated with a group of disorders known as familial hyperlipidemias. Aside from cosmetic concerns, these xanthomas are typically asymptomatic, but when generalized pruritus is a prominent associated symptom, clinicians should consider a different set of diagnoses that includes cholestasis of the liver. In this article we present two illustrative cases of children with cholestatic disease, pruritus, and xanthomas and discuss other disorders that may include this triad. Read More

    Primary Xanthoma of the Mandible-A Case Report.
    J Oral Maxillofac Surg 2017 Oct 16. Epub 2017 Oct 16.
    Oral Surgery Consultant, Department of Oral and Maxillofacial Surgery, Royal Dental Hospital Melbourne, Carlton, VIC, Australia.
    Xanthomas are common cutaneous and subcutaneous lesions that occur due to altered metabolic or endocrinal function. They are found on skin and around tendon sheaths in individuals with dyslipidemias. In extremely rare cases, they can present as isolated intrabony lesions in otherwise healthy individuals. Read More

    Role of Cytology in Early Diagnosis of Cerebrotendinous Xanthomas.
    J Cytol 2017 Oct-Dec;34(4):227-229
    Department of Pathology, Burdwan Medical College, Burdwan, West Bengal, India.
    Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disease characterized by widespread tissue deposition of two neutral sterols, cholestenol and cholesterol, resulting in tendinous xanthomas, juvenile cataracts, progressive neurological defects, and premature death from arteriosclerosis. Because it is a treatable cause of cerebellar ataxia and dementia, its early diagnosis is desirable. Here, we have reported the case of an 11-year-old boy with this disorder who was diagnosed based on the cytological findings of fine needle aspiration and clinical features. Read More

    Tendon Pathology in Hypercholesterolemia and Familial Hypercholesterolemia.
    Curr Rheumatol Rep 2017 Nov 4;19(12):76. Epub 2017 Nov 4.
    McKay Orthopaedic Laboratory, University of Pennsylvania, Stemmler Hall 36th Street and Hamilton Walk, Philadelphia, PA, 19104, USA.
    Purpose Of Review: Hypercholesterolemia (HC), or high cholesterol, is usually caused by diet, other health conditions, or inherited diseases, such as familial hypercholesterolemia (FHC). Studies have shown patients with hypercholesterolemia are more prone to tendon injury and impaired healing. Nonetheless, the mechanism by which high cholesterol alters the biochemical and biomechanical properties of tendon and the healing environment is not well defined. Read More

    CaRe high - Cascade screening and registry for high cholesterol in Germany.
    Atheroscler Suppl 2017 Nov 1;30:72-76. Epub 2017 Jun 1.
    D•A•CH-Gesellschaft Prävention von Herz-Kreislauf-Erkrankungen e.V., Hamburg, Germany; Synlab Academy, Synlab Holding Germany GmbH, Mannheim, Germany; Clinical Institut for Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Austria; Medical Clinic V (Nephrology, Hypertension, Rheumatology, Endocrinology, Diabetology), Mannheim Medical Faculty, University of Heidelberg, Mannheim, Germany.
    Introduction: Familial hypercholesterolemia (FH) is an inherited disorder of the LDL metabolism, leading to cardiovascular disease, even at young age. This risk can be significantly lowered by early diagnosis and treatment. About 270,000 patients affected in Germany are not diagnosed correctly and only a small number is treated properly. Read More

    Unique case of cerebrotendinous xanthomatosis revisited. All the mutations responsible for this disease are present in the CYP27A1 gene.
    J Intern Med 2017 Nov 2. Epub 2017 Nov 2.
    Division of Clinical Chemistry, Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital, Huddinge, Sweden.
    Cerebrotendinous xanthomatosis (CTX) is a rare recessive disorder believed to be exclusively caused by mutations in the CYP27A1 gene coding for the enzyme sterol 27-hydroxylase. The disease is characterized by tendon xanthomas, juvenile cataract, progressive dementia, chronic diarrhea, osteoporosis, ataxia and premature atherosclerosis. Xanthomas also often occur in the brain, in particular in cerebellum (1). Read More

    Cerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts.
    J AAPOS 2017 Oct 24. Epub 2017 Oct 24.
    Department of Ophthalmology, Casey Eye institute, Oregon Health and Science University, Portland. Electronic address:
    Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease characterized by a broad spectrum of clinical manifestations, including bilateral juvenile cataracts. Untreated CTX leads to progressive permanent neurologic decline and early death. Although symptoms begin in early childhood, diagnosis and replacement therapy with chenodeoxycholic acid is often delayed until adulthood. Read More

    Premature Coronary Artery Disease due to Homozygous Familial Hypercholesterolemia in a 12-Year-old Girl.
    Balkan Med J 2017 Oct 26. Epub 2017 Oct 26.
    Background: Homozygous familial hypercholesterolemia (HoFH) is a rare inherited metabolic disease, caused by low-density lipoprotein receptor abnormality. Patients with HoFH have an increased risk for cardiovascular complication (CVC) that usually occurs in the first decade of life. We report a twelve years-old girl with unpredicted presentation for coronary artery disease (CAD) and she was found to have HoFH. Read More

    Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey.
    Acta Neurol Belg 2017 Oct 22. Epub 2017 Oct 22.
    Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University, Kocamustafapasa Fatih, 34098, Istanbul, Turkey.
    Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder caused by defective sterol 27-hydroxylase activity. In spite of subtle clinical signs beginning from childhood, CTX is generally diagnosed lately. The aim of this study is to evaluate clinical, neuroradiological findings and therapy responses of pediatric CTX patients and raise awareness to early features of disease. Read More

    Imputation of Baseline LDL Cholesterol Concentration in Patients with Familial Hypercholesterolemia on Statins or Ezetimibe.
    Clin Chem 2017 Oct 16. Epub 2017 Oct 16.
    Research Institute of the McGill University Health Centre, Royal Victoria Hospital, Montreal, QC, Canada;
    Background: Familial hypercholesterolemia (FH) is the most frequent genetic disorder seen clinically and is characterized by increased LDL cholesterol (LDL-C) (>95th percentile), family history of increased LDL-C, premature atherosclerotic cardiovascular disease (ASCVD) in the patient or in first-degree relatives, presence of tendinous xanthomas or premature corneal arcus, or presence of a pathogenic mutation in the LDLR, PCSK9, or APOB genes. A diagnosis of FH has important clinical implications with respect to lifelong risk of ASCVD and requirement for intensive pharmacological therapy. The concentration of baseline LDL-C (untreated) is essential for the diagnosis of FH but is often not available because the individual is already on statin therapy. Read More

    Acute pancreatitis with eruptive xanthoma.
    BMJ Case Rep 2017 Oct 9;2017. Epub 2017 Oct 9.
    Department of Dermatology, Gaziantep University, Gaziantep, Turkey.
    Eruptive xanthomas are benign skin lesions caused by localised deposition of lipids in the dermis. Xanthomas can present as early manifestations of systemic disorders, which are typically caused by elevated levels of serum triglycerides and uncontrolled diabetes. Early recognition and treatment of the underlying condition decreases morbidity and mortality. Read More

    Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).
    J Inherit Metab Dis 2017 Nov 4;40(6):771-781. Epub 2017 Oct 4.
    Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.
    Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by mutations in the cytochrome P450 CYP27A1 gene that result in production of a defective sterol 27-hydroxylase enzyme. CTX is associated with abnormally high levels of cholestanol in the blood and accumulation of cholestanol and cholesterol in the brain, tendon xanthomas, and bile. Hallmark clinical manifestations of CTX include chronic diarrhea, bilateral cataracts, tendon xanthomas, and neurologic dysfunction. Read More

    Clinicopathological Assessment of Gastric Xanthoma as Potential Predictive Marker of Gastric Cancer.
    Digestion 2017 Sep 30;96(4):199-206. Epub 2017 Sep 30.
    Department of Gastroenterology and Oncology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
    Background/aims: Gastric xanthomas are frequently observed in the stomach as small yellowish plaques or nodules. A close relationship among Helicobacter pylori infection, atrophic gastritis, and xanthomas has been reported. We assessed the clinicopathological features of gastric cancer with or without xanthomas. Read More

    Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry.
    J Pediatr Gastroenterol Nutr 2017 Nov;65(5):561-568
    *The Department of Pediatrics, Jinshan Hospital, Fudan University, Shanghai, China †Department of Pathology and Laboratory Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH ‡Center for Pediatric Liver Diseases, Children's Hospital of Fudan University §Department of Pediatrics, Shanghai Medical College of Fudan University, Shanghai, China ||Institut für Pathologie, Medizinische Universität Graz, Graz, Austria.
    Objectives: Cerebrotendinous xanthomatosis (CTX) is caused by defects in sterol 27-hydroxylase (CYP27A1, encoded by CYP27A1), a key enzyme in the bile acid synthesis pathway. CTX usually presents as neurologic disease in adults or older children. The rare reports of CTX manifest as neonatal cholestasis assess the cholestasis as transient, with patient survival. Read More

    Frequency and clinical and molecular aspects of familial hypercholesterolemia in an endocrinology unit in Ciudad Bolívar, Venezuela.
    Endocrinol Diabetes Nutr 2017 Oct 4;64(8):432-439. Epub 2017 Jul 4.
    Unidade I&D, Grupo de Investigação Cardiovascular, Departamento de Promoção da Saúde e Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa, Portugal; Faculty of Sciences, University of Lisboa, BioISI-Biosystems & Integrative Sciences Institute, Campo Grande, Lisboa, Portugal.
    Objective: To assess the frequency and the clinical, biochemical, and molecular aspects of familial hypercholesterolemia (FH) in subjects attending an endocrinology unit.

    Methods: An observational, descriptive study evaluating 3,140 subjects attending the endocrinology unit of Centro Médico Orinoco in Ciudad Bolívar, Venezuela, from 7 January 2013 to 9 December 2016. The index cases were selected using the Dutch Lipid Clinic Network criteria. Read More

    Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.
    J Inherit Metab Dis 2017 Sep 11. Epub 2017 Sep 11.
    Department of Neurology, Canisius Wilhelmina Hospital, PO Box 9015, 6500GS, Nijmegen, The Netherlands.
    Background: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism (IEM) due to mutations in the CYP27A1 gene. The clinical picture ranges from being nearly asymptomatic in early childhood, up to severe disability at adult age. Infantile-onset diarrhea and juvenile-onset cataract are the earliest symptoms in childhood. Read More

    Xanthoma-like Skin Changes in an Elderly Woman with a Normal Lipid Profile.
    Acta Dermatovenerol Croat 2017 Jul;25(2):167-169
    Professor Joanna Maj, MD, PhD, Department and Clinic of Dermatology, Venereology and Allergology, Wroclaw Medical University, Chałubińskiego 1, PL-50-368 Wrocław, Poland;
    Dear Editor, An 83-year-old woman developed yellow-brownish infiltrates, nodules, and tumors mimicking xanthomas, mostly involving the periorbital and chest area within three months (Figure 1). She had no abnormalities in serum cholesterol or triglycerides levels. A detailed laboratory analysis revealed the presence of mild monoclonal gammopathy with a presence of immunoglobulin G (IgG) kappa light chains; however, according to hematologist consultation, it did not require medical intervention. Read More

    Achilles Tendon Xanthomas: Fat-Water Separation at Baseline and after Treatment.
    Radiology 2017 Dec 21;285(3):876-884. Epub 2017 Aug 21.
    From the Departments of Imaging & Interventional Radiology (J.F.G., D.K.W.Y., F.X., D.W.), Medicine & Therapeutics (M.H., B.T.), and Chemistry (P.G., S.L.L.), Prince of Wales Hospital, The Chinese University of Hong Kong, 30-32 Ngan Shing St, Shatin, NT, Hong Kong.
    Purpose To investigate the fat-water content of Achilles tendon xanthomas at baseline and after treatment and to compare this assessment with that of ultrasonography (US) and other magnetic resonance (MR) imaging-based parameters. Materials and Methods Forty-eight Achilles tendons with clinically apparent xanthomas in 24 patients with familial hypercholesterolemia (FH) (six men, 18 women; mean age ± standard deviation, 58 years ± 9) were compared with 20 Achilles tendons in 10 control subjects without FH (two men, eight women; mean age, 62 years ± 7). US imaging measurements (thickness, width, cross-sectional area, echogenicity) and 3. Read More

    PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia.
    Anatol J Cardiol 2017 Oct 2;18(4):266-272. Epub 2017 Aug 2.
    Department of Cardiology, Faculty of Medicine, Ege University; İzmir-Turkey.
    Objective: The molecular basis of the mutations in the PCSK9 gene that produces familial hypercholesterolemia (FH) in the Turkish population is unknown. This study was conducted to determine the presence of four different PCSK9 gain-of-function (GOF) mutations (F216L, R496W, S127R, and D374Y) in a group of patients with FH.

    Methods: A total of 80 consecutive patients with FH (mean age: 56±11 years; mean maximum LDL cholesterol: 251±76 mg/dL) were included in the study. Read More

    Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene.
    J Pediatr Endocrinol Metab 2017 Aug;30(9):1007-1011
    .
    Background: Sitosterolemia is a rare lipid metabolism disorder that involves storage of plant sterols. This disease is associated with atherosclerosis, but detailed vascular endothelial assessment is difficult.

    Case Presentation: We report a 5-year-old girl with sitosterolemia who presented with xanthomas at 23 months of age. Read More

    Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form.
    Eur J Dermatol 2017 Oct;27(5):519-523
    Department of Dermatology, American University of Beirut, Beirut, Lebanon, Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon, Department of Dermatology, Columbia University, New York, New York, USA.
    Sitosterol is the most abundant plant sterol found in our diet. Sitosterolemia (OMIM 210250), also known as phytosterolaemia, is a rare autosomal recessive disease caused by the inability to efficiently excrete plant sterol, and is characterized by cutaneous xanthomas and accelerated atherosclerosis. Sitosterolaemia is caused by homozygous or compound heterozygous mutations in either ABCG5 or ABCG8 (both on chromosome 2p21), which encode the sterol efflux transporter ABCG5 (sterolin-1) and ABCG8 (sterolin-2), respectively. Read More

    Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.
    J Thromb Haemost 2017 Sep 5;15(9):1859-1866. Epub 2017 Aug 5.
    Department of Hematology, Hospital Universitario de Salamanca-IBSAL-USAL, Salamanca, Spain.
    Essentials Diagnosis of sitosterolemia, a rare recessive or syndromic disorder, is usually delayed. Peripheral blood smear is extremely useful for establishing the suspicion of sitosterolemia. High-throughput sequencing technology enables the molecular diagnosis of inherited thrombocytopenias. Read More

    Evaluation of clinical and laboratory parameters used in the identification of index cases for genetic screening of familial hypercholesterolemia in Brazil.
    Atherosclerosis 2017 Aug 22;263:257-262. Epub 2017 Jun 22.
    Laboratory of Genetics and Molecular Cardiology, Heart Institute (InCor), University of São Paulo Medical School Hospital, São Paulo, Brazil.
    Background And Aims: There is controversy on the accuracy of different diagnostic criteria for familial hypercholesterolemia (FH). The aim of this study is to assess the performance of different clinical criteria used to identify individuals for FH genetic cascade screening in Brazil.

    Methods: All index cases (IC) registered in the Hipercol Brasil program between 2011 and 2016 were analyzed. Read More

    Treatment of xanthelasma palpebrarum with a 1064-nm, Q-switched Nd:YAG laser.
    J Am Acad Dermatol 2017 Oct 27;77(4):728-734. Epub 2017 Jun 27.
    National Skin Centre, Singapore.
    Background: Xanthelasma palpebrarum is the most common cutaneous xanthoma characterized by soft, yellow papules or plaques that arise on the periorbital skin. As these lesions can be cosmetically disfiguring, many patients seek medical help to remove these lesions.

    Objective: To determine the effectiveness and minimum number of treatment sessions with a 1064-nm, Q-switched neodymium-doped yttrium aluminum garnet (Nd:YAG) laser for the treatment of xanthelasma. Read More

    Two Cases of Rectal Xanthoma Presenting as Yellowish to Whitish Lesions during Colonoscopy.
    Case Rep Gastrointest Med 2017 1;2017:5975107. Epub 2017 Jun 1.
    Department of Gastroenterology and Hepatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan.
    Two cases of rectal xanthomas are described. One case is that of a 56-year-old Japanese man in whom multiple yellowish spots measuring approximately 3 to 5 mm were observed in the rectum during colonoscopy. The other case is that of a 78-year-old Japanese man in whom colonoscopy showed a whitish plaque of 4 mm in diameter in the rectum. Read More

    Achilles Tendon Ultrasonography for Diagnosis of Familial Hypercholesterolemia Among Japanese Subjects.
    Circ J 2017 Jun 23. Epub 2017 Jun 23.
    Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute.
    Background: Difficulty in detecting and measuring Achilles tendon (AT) xanthomas may be responsible for underdiagnosis of familial hypercholesterolemia (FH). We aimed to determine a cutoff value for AT thickness (AT-T) using ultrasonography to diagnose FH, and to investigate the relationship between AT-T and atherosclerosis.Methods and Results:Ultrasonographic AT-T and carotid intima-media thickness (IMT) were evaluated in 130 genetically diagnosed FH patients and 155 non-FH patients. Read More

    Effect of intensive LDL cholesterol lowering with PCSK9 monoclonal antibodies on tendon xanthoma regression in familial hypercholesterolemia.
    Atherosclerosis 2017 Aug 8;263:92-96. Epub 2017 Jun 8.
    Unidad Clínica y de Investigación en Lípidos y Arteriosclerosis, Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria Aragón (IIS Aragón), Universidad de Zaragoza, CIBERCV, Zaragoza, Spain. Electronic address:
    Background And Aims: The effect of LDLc lowering with PCSK9 antibodies on tendon xanthomas (TX) is unknown.

    Methods: TX was measured in 24 heterozygous familial hypercholesterolemia (HeFH) cases and in 24 HeFH controls with or without PCSK9 inhibitors for at least one year.

    Results: Exposure to PCSK9 inhibitors in cases was 2. Read More

    Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.
    Metab Brain Dis 2017 Oct 17;32(5):1609-1618. Epub 2017 Jun 17.
    Department of Neurology & National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200040, China.
    Cerebrotendinous xanthomatosis (CTX) is a lipid-storage disease caused by mutations in CYP27A1. Current publications of Chinese CTX were mainly based on case reports. Here we investigated the clinical manifestations, genetic features in Chinese CTX patients. Read More

    Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment.
    Am J Med Genet A 2017 Aug 7;173(8):2275-2279. Epub 2017 Jun 7.
    Department of Pediatrics,, Division of Genetics, University of California, San Francisco, California.
    Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, inborn error of bile acid metabolism characterized by diarrhea in infancy, juvenile cataracts in childhood, tendon xanthomas developing in the second to third decades of life, and progressive neurologic dysfunction in adulthood. The condition is caused by mutations in the CYP27A1 gene that result in decreased production of chenodeoxycholic acid (CDCA) and elevated levels of cholestanol and bile alcohols. We present a 36-year-old male of Han ethnicity who developed xanthomas of his Achilles tendons and suffered neurocognitive declines and gait deterioration in his second decade. Read More

    Xanthomatous Hypophysitis Presenting with Diabetes Insipidus Completely Cured Through Transsphenoidal Surgery: Case Report and Literature Review.
    World Neurosurg 2017 Aug 3;104:1051.e7-1051.e13. Epub 2017 Jun 3.
    Department of Neurosurgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, and Peking Union Medical College, Beijing, People's Republic of China. Electronic address:
    Background: Xanthomatous hypophysitis (XH) is extremely rare. Only 27 cases have been reported in the literature. No XH patient presenting with diabetes insipidus (DI) has been completely cured through surgery. Read More

    [Familial hypercholesterolemia: A largely underestimated cardiovascular risk].
    Ann Cardiol Angeiol (Paris) 2017 May 30. Epub 2017 May 30.
    Hôpital européen Georges-Pompidou, 20, rue Leblanc, 75015 Paris, France. Electronic address:
    Background: Familial hypercholesterolemia is a monogenic autosomal dominant dyslipidemia characterized by a permanent and isolated increase of cholesterol carried by low-density lipoproteins. The prevalence of its heterozygous form is estimated between 1/500 and 1/250, and in the absence of specific treatment, this form is responsible for an increase by a factor of 13 of the risk of premature coronary artery disease compared to patients non-affected by the disease.

    Objectives: To perform an inventory of the knowledge of heterozygous familial hypercholesterolemia in France for physicians involved in the management of the disease. Read More

    Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis.
    Pediatr Neurol 2017 Aug 18;73:98-100. Epub 2017 Apr 18.
    Department of Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.
    Background: This report highlights the differential diagnosis of predominant cerebellar white matter abnormalities with dentate nuclei involvement.

    Patient Description: We describe two individuals with Langerhans cell histiocytosis in whom the diagnosis of cerebrotendinous xanthomatosis was initially considered. The clinical picture consisted of a progressive cerebellar syndrome with typical magnetic resonance imaging abnormalities. Read More

    Xanthoma Disseminatum in a Young Patient with Diabetes Insipidus.
    Pediatr Dermatol 2017 May;34(3):e144-e145
    Department of Dermatology, Jinling Hospital, Medical School of Nanjing University, Nanjing, China.
    Xanthoma disseminatum (XD) is a nonfamilial type of normolipidemic mucocutaneous xanthomatosis that belongs to the group of non-Langerhans cell histiocytoses. More than 100 cases of XD have been reported. In this study we report a case of XD in a 4-year-old boy with diabetes insipidus (DI). Read More

    Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.
    Atherosclerosis 2017 Jul 4;262:71-77. Epub 2017 May 4.
    Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy. Electronic address:
    Background And Aims: Severe hypercholesterolemia associated or not with xanthomas in a child may suggest the diagnosis of homozygous autosomal dominant hypercholesterolemia (ADH), autosomal recessive hypercholesterolemia (ARH) or sitosterolemia, depending on the transmission of hypercholesterolemia in the patient's family. Sitosterolemia is a recessive disorder characterized by high plasma levels of cholesterol and plant sterols due to mutations in the ABCG5 or the ABCG8 gene, leading to a loss of function of the ATP-binding cassette (ABC) heterodimer transporter G5-G8.

    Methods: We aimed to perform the molecular characterization of two children with severe primary hypercholesterolemia. Read More

    [Severe hypertriglyceridemia : Diagnostics and new treatment principles].
    Internist (Berl) 2017 Aug;58(8):866-876
    Charité, Universitätsklinik Berlin, Augustenburger Platz 1, 13353, Berlin, Deutschland.
    Severe hypertriglyceridemia is defined at a plasma triglyceride (TG) concentration of >885 mg/dl and may result - in particular when clinical symptoms appear before the age of 40 - from "large variant" mutations in genes which influence the function of the lipoprotein lipase (LPL). For diagnosis, secondary factors have to be excluded and treated before further genetic tests are considered. Typical symptoms in almost all patients are recurrent, sometimes severe abdominal pain attacks, which can result in acute pancreatitis, the most important, sometimes life-threatening complication. Read More

    Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report.
    Ann Rehabil Med 2017 Apr 27;41(2):313-317. Epub 2017 Apr 27.
    Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
    Cerebrotendinous xanthomatosis is a rare autosomal recessive disease that involves multiple organs, including the peripheral nervous system. The present study is the first to report the ultrasonographic findings of peripheral nerves in a patient with cerebrotendinous xanthomatosis. The patient presented with bilateral Achilles tendon enlargement and foot hypesthesia. Read More

    Achilles tendon xanthomas are associated with the presence and burden of subclinical coronary atherosclerosis in heterozygous familial hypercholesterolemia: A pilot study.
    Atherosclerosis 2017 Aug 30;263:393-397. Epub 2017 Apr 30.
    Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School Hospital, Sao Paulo, SP, Brazil; Preventive Medicine Center and Cardiology Program, Hospital Israelita Albert Einstein, Sao Paulo, Brazil. Electronic address:
    Background And Aims: Achilles tendon xanthomas (ATX) are a sign of long-term exposure to high blood cholesterol in familial hypercholesterolemia (FH) patients, which have been associated with cardiovascular disease. We evaluated the ATX association with the presence and extent of subclinical coronary atherosclerosis in heterozygous FH patients.

    Methods: 102 FH patients diagnosed by US-MEDPED criteria (67% with genetically proven FH), with median LDL-C 279 mg/dL (interquartile range: 240; 313), asymptomatic for cardiovascular disease, underwent computed tomography angiography and coronary artery calcium (CAC) quantification. Read More

    Influence of low-level laser on pain and inflammation in type 2 diabetes mellitus with diabetic dermopathy - A case report.
    J Cosmet Laser Ther 2017 Oct 11;19(6):360-363. Epub 2017 May 11.
    a Kasturba Medical College (KMC), Manipal University , Manipal , India.
    Numerous skin lesions have been commonly observed in individuals with diabetes mellitus. The common skin manifestations of diabetes mellitus are erythrasma, xanthomatosis, xanthelasma, phycomycetes and cutaneous infections like furuncolosis, candidiasis, carbuncle, dermatophytosis, etc. Diabetic dermopathy is the most common skin lesion found in patients with diabetes. Read More

    Management of cholestatic pruritus in children with Alagille syndrome: Case report and literature review.
    Arch Pediatr 2016 Dec 27;23(12):1247-1250. Epub 2016 Oct 27.
    Pediatric department, Hedi Chaker Hospital, El ain street km 0,5, 3029 Sfax, Tunisia.
    Alagille syndrome causes intractable pruritus and disfiguring xanthomas because of retained bile acids and cholesterol. Drug therapy in addition to surgical intervention may be effective in many patients in reducing serum bile acids, cholesterol levels, pruritus, and skin xanthomas. In this report, we describe a child with Alagille syndrome who presented with severe pruritus and xanthomas as a consequence of severe hypercholesterolemia and discuss the treatment modalities. Read More

    Nodular Esophageal Xanthoma: A Case Report and Review of the Literature.
    Case Rep Gastrointest Med 2017 10;2017:1503967. Epub 2017 Apr 10.
    Department of Gastroenterology, Our Lady of Lourdes Hospital, Willingboro, NJ, USA.
    Xanthomas are localized nonneoplastic lesions within tissues that may manifest as papules, plaques, or nodules. These lesions can be found anywhere along the gastrointestinal tract, commonly in the stomach and colon, and rarely in the small intestine and esophagus. Esophagogastroduodenoscopy (EGD) with biopsy is the gold standard tool for diagnosis. Read More

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