5,749 results match your criteria Xanthelasma

Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report.

Case Rep Rheumatol 2021 20;2021:6656584. Epub 2021 May 20.

Rheumatology Department, Military Hospital Mohammed V, Mohammed V University, Rabat, Morocco.

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease rarely reported in Africa. Therefore, we report a Moroccan first case report of CTX. A 20-year-old woman was presented in our department for bilateral swelling of the posterior aspect of ankles and the anterior aspect knees with gait disturbances evolving since the age of 7. Read More

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Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

J Neurol Neurosurg Psychiatry 2021 Jun 8. Epub 2021 Jun 8.

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

Background: We used a multimodal approach including detailed phenotyping, whole exome sequencing (WES) and candidate gene filters to diagnose rare neurological diseases in individuals referred by tertiary neurology centres.

Methods: WES was performed on 66 individuals with neurogenetic diseases using candidate gene filters and stringent algorithms for assessing sequence variants. Pathogenic or likely pathogenic missense variants were interpreted using in silico prediction tools, family segregation analysis, previous publications of disease association and relevant biological assays. Read More

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Extensive soft tissue xanthomatosis masquerading as tophaceous gout in a normolipidemic man.

Rheumatology (Oxford) 2021 Jun 7. Epub 2021 Jun 7.

Department of Internal Medicine, Northwestern Medicine, Chicago, IL, US.

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NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.

Genes (Basel) 2021 May 6;12(5). Epub 2021 May 6.

Division of Genetic Medicine, Lausanne University Hospital (CHUV), 1011 Lausanne, Switzerland.

The identification of neurological disorders by next-generation sequencing (NGS)-based gene panels has helped clinicians understand the underlying physiopathology, resulting in personalized treatment for some rare diseases. While the phenotype of distinct neurogenetic disorders is generally well-known in childhood, in adulthood, the phenotype can be unspecific and make the standard diagnostic approach more complex. Here we present three unrelated adults with various neurological manifestations who were successfully diagnosed using NGS, allowing for the initiation of potentially life-changing treatments. Read More

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Disease modifying drugs in idiopathic sclerosing orbital inflammatory syndrome.

Orbit 2021 May 24:1-10. Epub 2021 May 24.

Pediatric Cell Therapy Research Center, Tehran University of Medical Sciences, Tehran, Iran.

: Idiopathic sclerosing orbital inflammatory syndrome (ISOIS) is a rare, progressive and hard to control disease. There is a deep gap of evidence regarding application of disease-modifying drugs (DMD) regimen as a potentially effective treatment for orbital inflammatory diseases. We aimed to report the results of using DMDs and discuss the concept of applying this modality of treatment in patients with ISOIS. Read More

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Risk of Non-Alcoholic Fatty Liver Disease in Xanthelasma Palpebrarum.

J Inflamm Res 2021 12;14:1891-1899. Epub 2021 May 12.

Department of Biochemistry, National Defense Medical Center, Taipei, Taiwan.

Background: Xanthelasma palpebrarum (XP) is a sign of hyperlipidemia and is closely linked to atherosclerosis. Since fatty liver shares similar risk factors with atherosclerosis, we hypothesized that patients with XP are also at risk of non-alcoholic fatty liver disease (NAFLD).

Methods: In this retrospective cohort study, 37 patients with XP were compared with sex- and age-matched controls undergoing general health examination. Read More

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Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging.

Neuropsychiatr Dis Treat 2021 12;17:1451-1458. Epub 2021 May 12.

Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Shandong University, Jinan, People's Republic of China.

Purpose: Leukodystrophies are frequently regarded as childhood disorders, but they can occur at any age, and the clinical and imaging patterns of the adult-onset form are usually different from the better-known childhood variants. Several reports have shown that various late-onset leukodystrophies, such as X-linked adrenoleukodystrophy and Krabbe disease, may present as spastic paraplegia with the absence of the characteristic white matter lesions on neuroimaging; this can be easily misdiagnosed as hereditary spastic paraplegia. The objective of this study was to investigate the frequency of late-onset leukodystrophies in patients with spastic paraplegia. Read More

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An Updated Work-Up for Patients With Xanthelasma Palpebrarum.

Dermatol Surg 2021 May 11. Epub 2021 May 11.

Department of Dermatology, Tufts Medical Center, Boston, Massachusetts AboutSkin Dermatology and DermSurgery, Greenwood Village, Colorado.

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Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings.

JIMD Rep 2021 May 8;59(1):3-9. Epub 2021 Jan 8.

Department of Clinical Genomics and Neurology Mayo Clinic Scottsdale Arizona USA.

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic variants in the gene encoding the mitochondrial enzyme sterol 27-hydroxylase. Patients with CTX can present with a wide range of symptoms, but most often have evidence of tendon xanthomas along with possible cataracts, atherosclerosis, or neurological dysfunction. Regardless of clinical phenotype, CTX patients typically exhibit levels of cholestanol and bile acid precursors in the circulation that are many fold increased over normal control concentrations. Read More

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Abdominal Pain as the Manifestation of Chylomicronemia Syndrome During Pregnancy: A Challenging Diagnosis.

Cureus 2021 Apr 6;13(4):e14317. Epub 2021 Apr 6.

Internal Medicine: Critical Care, Hospital De Cascais, Cascais, PRT.

Hypertriglyceridemia is a frequent cause of acute pancreatitis. Levels higher than 1000 mg/dL are often associated with a genetic predisposition that can be aggravated by other factors such as pregnancy and poorly controlled diabetes. The authors report a 19-year-old primigravida that presented with abdominal pain, emesis and a pruritic rash, along with severely increased plasma triglyceride levels. Read More

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Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments.

J Atheroscler Thromb 2021 May 8. Epub 2021 May 8.

Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center Research Institute.

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disorder caused by mutations in the CYP27A1 gene, which encodes the mitochondrial enzyme sterol 27-hydroxylase. Decreased sterol 27-hydroxylase activity results in impaired bile acid synthesis, leading to reduced production of bile acids, especially chenodeoxycholic acid (CDCA), as well as elevated serum cholestanol and urine bile alcohols. The accumulation of cholestanol and cholesterol mainly in the brain, lenses, and tendons results in the characteristic clinical manifestations of CTX. Read More

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Teaching NeuroImages: Symmetric Deep Cerebellar White Matter T2 and SWI Hypointense Lesions in a Case of Cerebrotendinous Xanthomatosis.

Neurology 2021 May 4. Epub 2021 May 4.

Yue Zhang, Huashan Hospital, Fudan University, Department of Neurology, Shanghai, China; Yimin Sun, Huashan Hospital, Fudan University, Department of Neurology, Shanghai, China; Haiqing Li, Huashan Hospital, Fudan University, Department of Radiology, Shanghai, China;

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Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis.

J Lipid Res 2021 Apr 20;62:100078. Epub 2021 Apr 20.

German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. Electronic address:

Cerebrotendinous xanthomatosis (CTX) is caused by autosomal recessive loss-of-function mutations in CYP27A1, a gene encoding cytochrome p450 oxidase essential for bile acid synthesis, resulting in altered bile acid and lipid metabolism. Here, we aimed to identify metabolic aberrations that drive ongoing neurodegeneration in some patients with CTX despite chenodeoxycholic acid (CDCA) supplementation, the standard treatment in CTX. Using chromatographic separation techniques coupled to mass spectrometry, we analyzed 26 sterol metabolites in serum and cerebrospinal fluid (CSF) of patients with CTX and in one CTX brain. Read More

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Lower eyelid xanthelasma following hyaluronic acid filler injections to the tear troughs.

J Cosmet Dermatol 2021 Apr 20. Epub 2021 Apr 20.

Cosmetic Laser Dermatology: A West Dermatology Company, San Diego, CA, USA.

Introduction: Adverse effects from dermal fillers are uncommon. We report a case of filler-induced xanthelasma at the bilateral infraorbital region in a 43-year-old woman after multiple injections of hyaluronic acid to correct tear trough depression.

Material And Methods: We report a case of a 43-year-old woman with a chief complaint of skin discoloration of the bilateral lower eyelids. Read More

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Cerebrotendinous xanthomatosis revisited.

Pract Neurol 2021 Jun 14;21(3):243-245. Epub 2021 Apr 14.

Department of Radiology, Orthopedic Research Center, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.

Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage syndrome defined clinically by the triad of progressive neurodegeneration, juvenile cataracts and tendon xanthomas in adults. It is treatable, and a prompt diagnosis can improve outcomes. We describe a patient with this condition who presented with progressive ataxia. Read More

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Cerebrotendinous xanthomatosis without neurological involvement.

J Intern Med 2021 Apr 8. Epub 2021 Apr 8.

Department of Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.

Background: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism. Neurological symptoms are considered to be a clinical hallmark of untreated adult patients. We describe a 'milder CTX phenotype', without neurological involvement. Read More

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Cutaneous Manifestations in Homozygous Familial Hypercholesterolemia.

Am J Med Sci 2021 05 2;361(5):e49-e50. Epub 2020 Nov 2.

Pandit BD Sharma University of Health Sciences, Rohtak, Haryana, India.

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High Glucose Causes Distinct Expression Patterns of Primary Human Skin Cells by RNA Sequencing.

Front Endocrinol (Lausanne) 2021 8;12:603645. Epub 2021 Mar 8.

Department of Vascular Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Diabetes-related skin problems represent the most common long-term complications in diabetes mellitus patients. These complications, which include diabetic dermopathy, diabetic blisters, necrobiosis lipoidica diabeticorum, and eruptive xanthomatosis, may dramatically impair patients' quality of life and cause long-lasting disability. However, the cellular and molecular mechanisms linking diabetes-related hyperglycemia and skin complications are still incompletely understood. Read More

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Expanding the clinical spectrum of cerebrotendinous xanthomatosis: Implications for newborn screening, follow-up and treatment.

C E M Hollak

J Intern Med 2021 Mar 24. Epub 2021 Mar 24.

From the, Department of Internal Medicine / Endocrinology and Metabolism, Academic Medical Center, Amsterdam, the Netherlands.

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Deep mining of oxysterols and cholestenoic acids in human plasma and cerebrospinal fluid: Quantification using isotope dilution mass spectrometry.

Anal Chim Acta 2021 Apr 4;1154:338259. Epub 2021 Feb 4.

Swansea University Medical School, ILS1 Building, Singleton Park, Swansea, SA2 8PP, Wales, UK.

Both plasma and cerebrospinal fluid (CSF) are rich in cholesterol and its metabolites. Here we describe in detail a methodology for the identification and quantification of multiple sterols including oxysterols and sterol-acids found in these fluids. The method is translatable to any laboratory with access to liquid chromatography - tandem mass spectrometry. Read More

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Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement.

Metab Brain Dis 2021 Mar 11. Epub 2021 Mar 11.

Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey.

Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by deficiency of sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. This multicenter, cross-sectional descriptive study aimed to document clinical characteristics of CTX patients of different ages, clinical presentations of early-diagnosed patients, and responses to short-term chenodeoxycholic acid (CDCA) treatment. Seven of 11 CTX patients were diagnosed in childhood. Read More

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Clinical Note: Bipolar disorder in Cerebrotendinous Xanthomatosis: a case report.

Actas Esp Psiquiatr 2021 Mar 1;49(2):85-86. Epub 2021 Mar 1.

Department of Psychiatry, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain. Department of Psychiatry, Universidad Autónoma, Madrid, Spain. Department of Psychiatry, Hospital Universitario Rey Juan Carlos, Móstoles, Spain. Department of Psychiatry, Hospital General de Villalba, Madrid, Spain. Department of Psychiatry, Hospital Universitario Infanta Elena, Valdemoro, Spain. Insituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain. CIBERSAM (Centro de Investigación en Salud Mental), Carlos III Institute of Health, Madrid, Spain. 9 Universidad Católica del Maule, Talca, Chile.

Cerebrotendinous X anthomatosis (CTX) is a rare autosomal recessive disorder presenting with possible psychiatric manifestations that, once established, are difficult to control. We present the case of a 29-year-old woman diagnosed with CTX who developed bipolar disorder. Owing to difficulties in pharmacological management, the patient underwent electroconvulsive therapy (ECT), which lead to a favorable outcome. Read More

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Spinal cerebrotendinous xanthomatosis: A case report and literature review.

Mol Genet Metab Rep 2021 Mar 3;26:100719. Epub 2021 Feb 3.

Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland.

Background: Classic cerebrotendinous xanthomatosis (CTX; OMIM #213700) manifests with chronic diarrhea, juvenile cataracts, tendon xanthomas and neurological symptoms. It is due to biallelic inactivation of wich leads to cholestanol accumulation in the central nervous system, eyes and tendons. Less commonly, the disease can present in young adults as spastic paraparesis in the absence of xanthomas. Read More

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The clinical and imaging features of cerebrotendinous xanthomatosis: A case report and review of the literature.

Medicine (Baltimore) 2021 Mar;100(9):e24687

Department of Radiology, Affiliated Hospital of Qingdao University, Qingdao, Shandong, China.

Rationale: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid deposition disorder characterized by systemic signs and neurological dysfunction. The radiological features of CTX are infrequently summarized in the literature.

Patient Concerns: We described a 40-year-old male patient who repeatedly engaged in wrestling matches and presented with progressive difficulty in walking and reduced balance with egg-sized, hard, smooth, and painless masses in both ankles. Read More

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Dermoscopy of penile sclerosing granuloma.

BMJ Case Rep 2021 Mar 2;14(3). Epub 2021 Mar 2.

Male Genital Dermatology Unit, Hospital de Clínicas Doctor Manuel Quintela, Montevideo, Uruguay.

Penile sclerosing granuloma is a foreign body reaction to the injection of material, usually for genital augmentation purposes. Patients commonly deny having had or performed these procedures on themselves, and diagnosis can be challenging. We describe the case of a 62-year-old man with a 10-year history of a growth on the penile shaft. Read More

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[Elevated CA19-9 levels; not always cancer].

Ned Tijdschr Geneeskd 2021 03 2;164. Epub 2021 Mar 2.

Isala, afd. Heelkunde, Zwolle.

Background: The levels of carbohydrate antigen 19-9 (CA19-9) are often tested to stage pancreatobiliary tumours or to monitor the effects of treatment of such tumours. Benign diseases can also be associated with elevated CA 19-9 levels, but extreme elevation is rare in such cases.

Case Description: An 84-year-old man was diagnosed with cholecystitis at the emergency department and received conservative treatment with antibiotics for this. Read More

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Update on cerebrotendinous xanthomatosis.

Curr Opin Lipidol 2021 Apr;32(2):123-131

Knight Cardiovascular Institute, and Division of Endocrinology, Diabetes & Clinical Nutrition, Oregon Health & Science University, Portland, Oregon, USA.

Purpose Of Review: Cerebrotendinous xanthomatosis (CTX) is a rare genetic lipid storage disorder with highly pleomorphic clinical phenotype. Complications of this disease can be devastating and may include severe cognitive impairment and dementia in later stages. Disease progression can be prevented or stabilized by bile acid replacement therapy, although a subset of patients with advanced disease continue to deteriorate despite therapy. Read More

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Clinical and pathological diagnosis and comparison of benign and malignant eyelid tumors.

J Fr Ophtalmol 2021 Apr 18;44(4):537-543. Epub 2021 Feb 18.

Department of Pathology, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey.

Purpose: To assess and compare demographic and clinical features of benign and malignant eyelid tumors from 2011 to 2018 in a tertiary medical center.

Materials And Methods: The study was conducted retrospectively from medical records to compare demographic and clinical characteristics and recurrence of benign and malignant eyelid tumors after obtaining institutional review board approval. A total of 428 eyelid tumors with histopathologic diagnoses were studied. Read More

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Small intestinal xanthomatosis leading to dysmotility.

Pathol Int 2021 Apr 9;71(4):287-289. Epub 2021 Feb 9.

Department of Pathology, Kenwakai Otemachi Hospital, Fukuoka, Japan.

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