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    Central xanthoma of the mandible associated with hyperlipidemia: A rare presentation.
    Int J Pediatr Otorhinolaryngol 2018 Feb 5;105:75-78. Epub 2017 Dec 5.
    Department of Oncology and Diagnostic Sciences, University of Maryland School of Dentistry, Baltimore, MD, United States; Molecular and Structural Biology Branch, The Marlene and Stewart Greenebaum Center, Baltimore, MD, United States. Electronic address:
    Xanthoma is a common, self-limiting cutaneous lesion of non-Langerhans cell, lipid-laden foamy histiocytes that is often concomitant with hyperlipidemia. The intraosseous counterpart is rarely encountered and typically presents as a painless, expansile osteolytic process in the context of hyperlipidemia or normolipidemia. Only a scant number of gnathic xanthomas have been reported in the otolaryngologic literature. Read More

    A Case of Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene.
    Intern Med 2018 Feb 9. Epub 2018 Feb 9.
    Department of Endocrinology and Metabolism, Nagasaki University Hospital, Japan.
    Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, inborn disruption in bile acid synthesis characterized by severe systemic xanthomas, cataracts and neurological injuries occurring before adolescence without elevation of the serum cholesterol or triglyceride levels. CTX is caused by a deficiency of the mitochondrial enzyme sterol 27-hydroxylase, which is encoded by the CYP27A1 gene. We herein report a 50-year-old Japanese woman with late-onset CTX who had no relevant symptoms before the development of bilateral Achilles tendon xanthomas in middle age. Read More

    Guidance for Pediatric Familial Hypercholesterolemia 2017.
    J Atheroscler Thromb 2018 Feb 6. Epub 2018 Feb 6.
    Department of Clinical Cell Biology and Medicine, Chiba University Graduate School of Medicine.
    This paper describes consensus statement by Joint Working Group by Japan Pediatric Society and Japan Atherosclerosis Society for Making Guidance of Pediatric Familial Hypercholesterolemia (FH) in order to improve prognosis of FH.FH is a common genetic disease caused by mutations in genes related to low density lipoprotein (LDL) receptor pathway. Because patients with FH have high LDL cholesterol (LDL-C) levels from the birth, atherosclerosis begins and develops during childhood which determines the prognosis. Read More

    Xanthomatosis in bilateral hands mimicking rheumatoid arthritis: A case report.
    Medicine (Baltimore) 2017 Dec;96(51):e9399
    Department of Radiology, The Second Xiangya Hospital of Central South University, Changsha, Hunan.
    Rationale: Xanthomatosis often accompanies familial hypercholesterolemia. This disease usually occurs in tendons, most commonly located in the Achilles tendon; occasionally it can also be seen in other systems. Although there are previous reports for bilateral hand extensor tendon involvement, to our knowledge there is no report in English literature regarding bilateral hands with small joint synovium presenting as rheumatoid arthritis. Read More

    Xanthoma Disseminatum Presenting with Hoarseness.
    Iran J Otorhinolaryngol 2017 Nov;29(95):365-368
    Department of Pathology, JIPMER, Puducherry, India.
    Introduction: Xanthoma disseminatum (XD) is a rare, benign, non-Langerhans cell histiocytic disorder with unknown etio-pathology. It manifests with multiple, grouped, red-brown to yellow papules and nodules involving the skin, mucous membranes, and internal organs with a predilection for flexures and the face.

    Case Report: We report a patient who presented with disseminated xanthomatous papules and nodules involving the face, neck, trunk, axilla, groin, and oral cavity, along with hoarseness of voice. Read More

    Association between non-cholesterol sterol concentrations and Achilles tendon thickness in patients with genetic familial hypercholesterolemia.
    J Transl Med 2018 Jan 15;16(1). Epub 2018 Jan 15.
    Unidad Clínica y de Investigación en Lípidos y Arteriosclerosis, Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria Aragón (IIS Aragón), CIBERCV, Universidad de Zaragoza, Av. Isabel La Católica, 1-3, 50009, Saragossa, Spain.
    Background: Familial hypercholesterolemia (FH) is a genetic disorder that result in abnormally high low-density lipoprotein cholesterol levels, markedly increased risk of coronary heart disease (CHD) and tendon xanthomas (TX). However, the clinical expression is highly variable. TX are present in other metabolic diseases that associate increased sterol concentration. Read More

    Nationwide survey on cerebrotendinous xanthomatosis in Japan.
    J Hum Genet 2018 Jan 10. Epub 2018 Jan 10.
    Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
    Cerebrotendinous xanthomatosis (CTX) is likely to be underdiagnosed and precise epidemiological characteristics of CTX are largely unknown as knowledge on the disorder is based mainly on case reports. We conducted a nationwide survey on CTX to elucidate the frequency, clinical picture, and molecular biological background of Japanese CTX patients. In this first Japanese nationwide survey on CTX, 2541 questionnaires were sent to clinical departments across Japan. Read More

    Adulthood leukodystrophies.
    Nat Rev Neurol 2018 Feb 5;14(2):94-105. Epub 2018 Jan 5.
    Division of Neurology, Children's Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA.
    The leukodystrophies are a group of inherited white matter disorders with a heterogeneous genetic background, considerable phenotypic variability and disease onset at all ages. This Review focuses on leukodystrophies with major prevalence or primary onset in adulthood. We summarize 20 leukodystrophies with adult presentations, providing information on the underlying genetic mutations and on biochemical assays that aid diagnosis, where available. Read More

    Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing.
    Intern Med 2017 Dec 21. Epub 2017 Dec 21.
    Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine.
    A 63-year-old man was hospitalized due to an abdominal pulsatile mass. Computed tomography revealed a saccular type abdominal aortic aneurysm (AAA), the diameter of which was 52 mm. A physical examination revealed prominent Achilles tendon thickness and plantar xanthomas. Read More

    Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.
    J Neurol 2018 Feb 19;265(2):388-393. Epub 2017 Dec 19.
    Department of Neurology with Friedrich-Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany.
    Cerebrotendinous xanthomatosis (CTX, MIM 213700) is a rare autosomal recessive lipid storage disorder caused by CYP27A1 mutations. Treatment with chenodeoxycholic acid (CDCA) may slow the progression of the disease and reverse some symptoms in a proportion of patients. In a non-consanguineous Caucasian family, two siblings with CTX were evaluated before treatment and prospectively followed-up every 6 months after starting CDCA therapy, using systematic clinical examination, neuropsychological tests, laboratory tests, electroencephalography (EEG) and brain MRI, diffusion tensor imaging (DTI) and tractography. Read More

    A case of sitosterolemia misdiagnosed as familial hypercholesterolemia: A 4-year follow-up.
    J Clin Lipidol 2018 Jan - Feb;12(1):236-239. Epub 2017 Nov 11.
    The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing AnZhen Hospital, Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, China. Electronic address:
    Familial hypercholesterolemia (FH) is a common inherited disease that exhibits significantly increased levels of low-density lipoprotein cholesterol (LDL-C), skin or tendon xanthomas, corneal arcus and premature coronary heart disease (CHD). The prevalence of heterozygous FH is nearly 1/300 worldwide, and the prevalence of homozygous FH (HoFH) is 1/160,000 - 1/300,000. The Dutch Lipid Clinic Network diagnostic (DLCN) criteria is the most commonly recommended criteria for diagnosing FH patients. Read More

    Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.
    J Neurol Sci 2017 Dec 10;383:18-25. Epub 2017 Oct 10.
    Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Genetics Identification Laboratory (Experimental Research Center), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Postgraduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. Electronic address:
    Background: Molecular diagnosis of hereditary spastic paraplegias (HSP) is a difficult task due to great clinical and genetic heterogeneity. We aimed to characterize clinical and molecular findings of HSP families from Rio Grande do Sul, Brazil; and to evaluate the diagnostic yield of a next-generation sequencing (NGS) panel with twelve HSP-related genes.

    Methods: A consecutive series of HSP index cases with familial recurrence of spasticity, consanguinity or thin corpus callosum (TCC) were included in this cross-sectional study. Read More

    Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review.
    J Orthop Case Rep 2017 Sep-Oct;7(5):54-58
    Center of Excellence for Medical Genetics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
    Introduction: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by mutations of the CYP27A1 gene and deficiency of the sterol-27-hydroxylase enzyme in bile acid biosynthesis. It is characterized by the accumulation of cholestanol and bile alcohols in plasma, the formation of xanthomatous lesions in various tissues, and organ degeneration. This disorder is also associated with osteoporosis and increased risk of fracture. Read More

    Miscellaneous skin disease and the metabolic syndrome.
    Clin Dermatol 2018 Jan - Feb;36(1):94-100. Epub 2017 Sep 8.
    Department of Dermatology, Istanbul Medeniyet University, Medical School, Istanbul, Turkey. Electronic address:
    The link between the metabolic syndrome (MetS) and skin diseases is increasingly important, with new associations being discovered. The association between MetS and psoriasis or MetS and hidradenitis suppurativa is well known, although the relationship between MetS and various autoimmune or inflammatory diseases has only recently attracted interest. Some inflammatory skin diseases, such as vitiligo, scleredema, recurrent aphthous stomatitis, Behçet disease, rosacea, necrobiosis lipoidica, granuloma annulare, skin tags, knuckle pads, and eruptive xanthomas, have possible associations with MetS. Read More

    Compound heterozygous familial hypercholesterolemia in a Chinese boy with a de novo and transmitted low-density lipoprotein receptor mutation.
    J Clin Lipidol 2018 Jan - Feb;12(1):230-235.e6. Epub 2017 Oct 26.
    Department of Endocrinology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China; Key Laboratory of Rare Metabolic Diseases, Nanjing Medical University, Nanjing, China; State Key Laboratory of Pharmaceutical Biotechnology, Nanjing University, Nanjing, China. Electronic address:
    Background: Homozygous familial hypercholesterolemia is characterized by extremely elevated serum low-density lipoprotein cholesterol (LDL-C) levels and increased risk of cardiovascular complications due to biallelic mutations in LDL receptor (LDLR).

    Objective: We present a 10-year-old Chinese homozygous familial hypercholesterolemia boy with biallelic LDLR mutations including an extremely rare de novo mutation.

    Methods: Detailed family history and clinical and biochemical data were gathered from the pedigree. Read More

    Unravelling new pathways of sterol metabolism: lessons learned from in-born errors and cancer.
    Curr Opin Clin Nutr Metab Care 2018 Mar;21(2):90-96
    Swansea University Medical School, ILS1 Building, Singleton Park, Swansea, UK.
    Purpose Of Review: To update researchers of recently discovered metabolites of cholesterol and of its precursors and to suggest relevant metabolic pathways.

    Recent Findings: Patients suffering from inborn errors of sterol biosynthesis, transport and metabolism display unusual metabolic pathways, which may be major routes in the diseased state but minor in the healthy individual. Although quantitatively minor, these pathways may still be important in healthy individuals. Read More

    The association between hypercholesterolemia and sitosterolemia, and report of a sitosterolemia kindred.
    J Clin Lipidol 2018 Jan - Feb;12(1):152-161. Epub 2017 Oct 27.
    Boston Heart Diagnostics, Framingham, MA, USA; Cardiovascular Nutrition Laboratory, Jean Mayer USDA Human Nutrition Research Center on Aging, Tufts University, Boston, MA, USA. Electronic address:
    Background: Sitosterolemia is associated with increases in intestinal sterol absorption, low-density lipoprotein cholesterol (LDL-C), and cardiovascular disease risk.

    Objective: We examined the relationship between hypercholesterolemia and sitosterolemia in a large population and report a new sitosterolemia case.

    Methods: Plasma sterol concentrations were measured by gas chromatography/mass spectrometry, and LDL-C by direct assay. Read More

    Prognostic significance of promoter DNA hypermethylation of the cysteine dioxygenase 1 (CDO1) gene in primary gallbladder cancer and gallbladder disease.
    PLoS One 2017 21;12(11):e0188178. Epub 2017 Nov 21.
    Department of Surgery, Kitasato University Hospital, Minami-ku, Sagamihara, Kanagawa, Japan.
    Background: Aberrant promoter DNA methylation of the cysteine dioxygenase 1 (CDO1) gene is found in various human cancers and is associated with clinical outcome. In this study, we assessed for the first time the clinicopathological significance of CDO1 methylation in primary gallbladder cancer (GBC) in comparison with non-malignant gallbladder disease.

    Methods: CDO1 DNA methylation was quantified using quantitative TaqMan methylation specific PCR (Q-MSP) in 99 primary GBC patients together with the 78 corresponding non-tumor tissues and 26 benign gallbladder disease (including 7 patients with xanthogranulomatous cholecystitis) who underwent surgical resection between 1986 and 2014. Read More

    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 2018 Feb 16;76(2):374.e1-374.e4. 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

    Cerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts.
    J AAPOS 2017 Dec 24;21(6):505-507. 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

    Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed.
    Ann Hepatol 2017 November-December,;16(6):970-978
    Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN.
    Sitosterolemia is an autosomal recessive metabolic disease caused by mutations in ABCG5 or ABCG8 genes which encode for the (ATP)-binding cassette (ABC) transporters that are responsible for the trafficking of xenosterols. Liver involvement is not a recognized manifestation of this disease, and cirrhosis has been reported only once in the medical literature. We describe a fatal case of a 21-year old South Asian male who presented with decompensated cirrhosis, and biochemical abnormalities consistent with sitosterolemia. Read More

    Imputation of Baseline LDL Cholesterol Concentration in Patients with Familial Hypercholesterolemia on Statins or Ezetimibe.
    Clin Chem 2018 Feb 16;64(2):355-362. 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,, orgenes. 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

    Rituximab Monotherapy Is Effective in Treating Orbital Necrobiotic Xanthogranuloma.
    Ophthal Plast Reconstr Surg 2018 Jan/Feb;34(1):e24-e27
    Orbital Oncology and Ophthalmic Plastic Surgery, Department of Plastic Surgery, Department of Lymphoma and Myeloma, Department of Pathology, and Department of Translational and Molecular Pathology, The University of Texas MD Anderson Cancer Center, Houston, Texas, U.S.A.
    The authors report a case of a patient with bilateral orbital necrobiotic xanthogranuloma and no associated systemic paraproteinemia. Orbital biopsy showed strong expression of CD20-positive cells. The patient was treated with systemic rituximab monotherapy, with excellent clinical response and marked regression of the orbital lesions on imaging. Read More

    Adult Orbital and Adnexal Xanthogranulomatous Disease.
    Asia Pac J Ophthalmol (Phila) 2017 Sep-Oct;6(5):435-443. Epub 2017 Aug 22.
    Royal Brisbane and Women's Hospital, Herston, Queensland, Australia.
    Purpose: Adult xanthogranulomatous disease of the orbit and ocular adnexa is a rare disease that can cause serious morbidity and mortality. Ophthalmologists are commonly the first clinicians to come in contact with affected patients and an understanding of the clinical features is essential.

    Design: We present a retrospective case series of patients seen in the oculoplastic unit of a large tertiary referral hospital over a 20-year period. 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

    Fibrohistiocytic Tumors.
    Clin Lab Med 2017 Sep 15;37(3):603-631. Epub 2017 Jun 15.
    Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Mayo Clinic, Hilton 11, 200 First Street Southwest, Rochester, MN 55905, USA. Electronic address:
    Fibrohistiocytic tumors are a diverse group of reactive and neoplastic lesions including xanthoma, fibrous histiocytoma and its variants, solitary xanthogranuloma, dermatofibrosarcoma protuberans, and atypical fibroxanthoma. This article reviews some of the more commonly encountered fibrohistiocytic tumors with an emphasis on clinical presentation, macroscopic and histologic characteristics, molecular/cytogenetic findings where applicable, and differential diagnoses. 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

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