5,609 results match your criteria Xanthelasma


Gastric xanthelasma may be a warning sign of intestinal metaplasia: A cross‑sectional study.

Oncol Rep 2020 Jun 19. Epub 2020 Jun 19.

Department of Gastroenterology, Ruijin Hospital North, Shanghai Jiaotong University School of Medicine, Shanghai 201801, P.R. China.

Certain conflicting conclusions have been drawn that gastric xanthelasma is related to H. pylori, atrophic gastritis, intestinal metaplasia, and early gastric cancer. The aim of this study was to examine the relationship between gastric xanthelasma and upper gastrointestinal (GI) endoscopic or pathological features. Read More

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http://dx.doi.org/10.3892/or.2020.7651DOI Listing

A Late-onset and Relatively Rapidly Progressive Case of Pure Spinal Form Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene.

Intern Med 2020 Jun 23. Epub 2020 Jun 23.

Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan.

A 61-year-old Japanese man with the pure spinal form of cerebrotendinous xanthomatosis developed dysesthesia of the lower limbs and gait disturbance at 57 years of age. At 61 years old, he was unable to walk without support. A neurological examination showed spasticity and sensory disturbance in the lower limbs. Read More

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http://dx.doi.org/10.2169/internalmedicine.5037-20DOI Listing

Clinical presentation, imaging and response to interferon-alpha therapy in Erdheim-Chester disease: case-based review.

Rheumatol Int 2020 Jun 22. Epub 2020 Jun 22.

Medical Sciences, Department of Internal Medicine # 3, O. Bogomolets National Medical University, T. Shevchenko boulevard, 13, Kiev, 01601, Ukraine.

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis associated with BRAFV600E mutations in more than 50% of cases and presenting with 95% with skeletal lesions. However, cutaneous, pulmonary, large vessels and central nervous system involvement can also occur. We report a case of a 25-year-old woman who was admitted in 2018 for exploration of diffuse bone pain and rashes on the face. Read More

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http://dx.doi.org/10.1007/s00296-020-04627-zDOI Listing

Plasma sublimation for the treatment of xanthelasma palpebrarum.

Acta Dermatovenerol Alp Pannonica Adriat 2020 Jun;29(2):55-57

Department of Dermatovenerology, Faculty of Medicine, University of Latvia, Riga, Latvia.

Introduction: Xanthelasma palpebrarum (XP) is a common xanthomatous lesion of the eyelid and periorbital skin. Several methods of treatment have been reported in the literature, each having its own indications and risks. We present a new treatment method for removing XP using a plasma exeresis device (Plexr®, GMV, Italy). Read More

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Multifocal, hypoechogenic nerve thickening in Cerebrotendinous Xanthomatosis.

Clin Neurophysiol 2020 May 21;131(8):1798-1803. Epub 2020 May 21.

Center of Neurology and Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.

Objective: To characterize peripheral nerve morphology in cerebrotendinous xanthomatosis (CTX) patients using high-resolution ultrasound (HRUS) in vivo. We hypothesized that nerve enlargements might be present in CTX as a result of accumulation of abnormal lipids with deposition also in peripheral nerves.

Methods: Four CTX patients were examined using HRUS to assess morphological abnormalities of peripheral nerves as well as cervical nerve roots 5 and 6. Read More

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http://dx.doi.org/10.1016/j.clinph.2020.04.162DOI Listing

Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots.

Genet Med 2020 Jun 10. Epub 2020 Jun 10.

Department of Chemistry, University of Washington, Seattle, WA, USA.

Purpose: Cerebrotendinous xanthomatosis (CTX) is a treatable hereditary disorder caused by the deficiency of sterol 27-hydroxylase, which is encoded by the CYP27A1 gene. Different newborn screening biomarkers for CTX have been described, including 7α,12α-dihydroxy-4-cholesten-3-one (7α12αC4), 5β-cholestane-3α,7α,12α,25-tetrol glucuronide (GlcA-tetrol), the ratio of GlcA-tetrol to tauro-chenodeoxycholic acid (t-CDCA) (GlcA-tetrol/t-CDCA), and the ratio of tauro-trihydroxycholestanoic acid (t-THCA) to GlcA-tetrol (t-THCA/GlcA-tetrol). We set out to evaluate these screening methods in a research study using over 32,000 newborn dried blood spots (DBS). Read More

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http://dx.doi.org/10.1038/s41436-020-0846-xDOI Listing

High occurrence rate of xanthomatosis and nephrocalcinosis in aquarium-housed Atlantic wolffish Anarhichas lupus and spotted wolffish A. minor.

Dis Aquat Organ 2020 Jun 4;139:223-232. Epub 2020 Jun 4.

Centre québécois sur la santé des animaux sauvages/Canadian Wildlife Health Cooperative, Faculté de médecine vétérinaire, Université de Montréal, St. Hyacinthe, Quebec J2S 8H5, Canada.

The Atlantic wolffish (AW) and the spotted wolffish (SW) are long-lived fish found in the North Atlantic and Arctic oceans and are respectively classified as special concern and threatened species, mainly due to fisheries bycatch. To better understand health issues associated with the care of these species in public aquaria, reports from all necropsies performed in 2 zoological institutions between 2009 and 2019 were reviewed (31 AW and 8 SW). These wolffish were fed with a similar fish-based diet and kept in multi-species exhibits with comparable environmental parameters. Read More

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http://dx.doi.org/10.3354/dao03477DOI Listing

Ultrapulsed CO ablation in the treatment of xanthelasma palpebrarum: high satisfaction treatment with low recurrence.

Authors:
Firas Al-Niaimi

J Dermatolog Treat 2020 Jun 9:1-3. Epub 2020 Jun 9.

152 Harley Street Clinic, London, UK.

Xanthelasma are localized accumulation of lipid deposits on the eyelids. Lesions are typically asymptomatic and treatment is often sought for cosmetic purposes. Unfortunately, there is paucity of strong evidence in the literature for the effective treatment of normolipidaemic xanthelasmas. Read More

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http://dx.doi.org/10.1080/09546634.2020.1775776DOI Listing

Clinical efficacy of 1,444nm Nd:YAG laser for xanthelasma palpebrarum.

J Cosmet Laser Ther 2020 May 21:1-5. Epub 2020 May 21.

Department of Dermatology, Korea University Ansan Hospital, Korea University, Ansan-si, Gyeonggi-do, Republic of Korea.

Xanthelasma palpebrarum (XP) does not regress spontaneously and most patients complain of cosmetic discomfort. This study presents the results of treatment of XP using 1,444 nm Nd:YAG laser. We aim to evaluate the clinical efficacy of a 1,444 nm Nd:YAG laser in XP. Read More

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http://dx.doi.org/10.1080/14764172.2020.1761551DOI Listing

Granulomatous reaction to migrating silicone oil clinically mimicking a xanthelasma: A case report.

Int J Surg Case Rep 2020 7;70:182-184. Epub 2020 May 7.

Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Introduction: Silicone oil has been used for many years in retinal surgeries for retinal detachment. One of its reported complications is oil migration to the periorbital area, resulting in granulomatous reaction.

Presentation Of Case: A 56-year-old lady, with history of retinal detachment that was repaired by vitrectomy, silicone oil removal and epi-retinal membrane peeling, presented to us with unilateral ptosis and a skin lesion that resembled xanthelasma. Read More

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http://dx.doi.org/10.1016/j.ijscr.2020.04.071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229421PMC

Dyslipidemia may not be clinically relevant in treating xanthelasma palpebrarum: A retrospective pilot study.

Dermatol Ther 2020 May 14:e13589. Epub 2020 May 14.

Department of Dermatology, SMG-SNU Boramae Medical Center, Seoul, South Korea.

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http://dx.doi.org/10.1111/dth.13589DOI Listing

FAMILIAL HYPERCHOLESTEROLAEMIA - A DIAGNOSIS THAT EVERY PLASTIC SURGEON CAN EXPERIENCE.

Acta Chir Plast 2020 ;60(2-4):54-58

Familial hypercholesterolaemia (FH) is the most common autosomal dominant inheritable disease caused by a defective catabolism of LDL particles. Their subsequent accumulation in circulation accelerates atherosclerotic vascular disease. Untreated FH increases the risk of premature manifestation of atherosclerosis (myocardial infarction - MI- or stroke); it is known that homozygous patients, if not adequately treated, are usually affected by atherothrombotic complications of the underlying disease before 20 years of age and often do not live longer than 30 years. Read More

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January 2020

Erdheim-Chester Disease With Concurrent Lung Adenocarcinoma.

J Investig Med High Impact Case Rep 2020 Jan-Dec;8:2324709620918101

Icahn School of Medicine at Mount Sinai, Queens Hospital Center, Jamaica, NY, USA.

Erdheim-Chester disease (ECD) is a rare type of blood cancer characterized by infiltration of the body tissues by pathologic histiocytes, leading to widespread inflammation and damage. Clinical presentations range widely, from asymptomatic infiltration of bone to multiple organ system damage and resultant dysfunction. This report describes a case of a patient with several unusual imaging findings that led to a differential diagnosis of ECD; however, a biopsy of a mediastinal mass suspected to be due to histiocyte infiltration instead revealed primary lung cancer. Read More

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http://dx.doi.org/10.1177/2324709620918101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218319PMC

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis.

Neurodegener Dis 2019 29;19(5-6):218-224. Epub 2020 Apr 29.

Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

Objectives: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive inborn lipid storage disorder due to various pathogenic mutations in the CYP27A1 gene. Although the symptoms begin commonly in infancy, CTX diagnosis is often delayed. In this study, we report 7 Turkish CTX patients who had a delayed diagnosis despite early clinical signs and belonged to 6 unrelated families. Read More

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http://dx.doi.org/10.1159/000506770DOI Listing

"A Retroflexed View into Metabolic Syndrome".

Gastroenterology 2020 Apr 19. Epub 2020 Apr 19.

Division of Gastroenterology, Hepatology and Endoscopy. Brigham and Women's Hospital. Harvard Medical School. Boston, MA.

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http://dx.doi.org/10.1053/j.gastro.2020.03.082DOI Listing

A unique kind of Cholecystitis.

J Pak Med Assoc 2020 Apr;70(4):780-782

Dow University of Health Sciences, Civil Hospital, Karachi, Pakistan.

Xanthogranulomatous Cholecystitis (GC) is a rare inflammatory pathology of the gallbladder which so far remains unreported in Pakistan. The aetiology and provocative factors of this form of cholecystitis following the pattern of Xanthogranulomatous inflammation in other visceras remain undetermined. It is a destructive inflammatory process and is difficult to differentiate from malignant entities; usually characterised by lipid laden macrophages and acute or chronic inflammatory cells. Read More

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http://dx.doi.org/10.5455/JPMA.292823DOI Listing

A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis.

J Pediatr Endocrinol Metab 2020 May;33(5):665-669

Pediatric Metabolism, Ministry of Health Ankara City Hospital, University of Health Science, Ankara, Turkey.

Background Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an uncommon cholestatic liver disease caused by mutations in the ATP binding cassette subfamily B member 4 (ABCB4) gene. Although PFIC3 is frequently identified in childhood, ABCB4 disease-causing alleles have been described in adults affected by intrahepatic cholestasis of pregnancy, hormone-induced cholestasis, low-phospholipid-associated cholelithiasis syndrome or juvenile cholelithiasis, cholangiocarcinoma and in sporadic forms of primary biliary cirrhosis. Cholestanol is a biomarker which is elevated especially in cerebrotendinous xanthomatosis and rarely in primary biliary cirrhosis (PBC) and Niemann Pick type C. Read More

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http://dx.doi.org/10.1515/jpem-2019-0314DOI Listing

Multi-imaging study in a patient with cerebrotendinous xanthomatosis: radiology, clinic and pathology correlation of a rare condition.

BJR Case Rep 2020 Mar 12;6(1):20190047. Epub 2020 Feb 12.

Department of Advanced Biomedical Sciences, "Federico II" University of Naples, Naples, Italy.

Cerebrotendinous xanthomatosis (CTX) is a rare metabolic disease with autosomal recessive inheritance. It is caused by mutations of the CYP27A1 gene, which codifies for sterol 27-hydroxylase, an enzyme that is responsible for the synthesis of cholic acids. In CTX, cholic acid synthesis is impaired, leading to accumulation of the precursor chenodessossicholic acid) in various organs and tissues. Read More

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http://dx.doi.org/10.1259/bjrcr.20190047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7068097PMC

[Scalp atypical fibroxanthoma. Report of one case].

Rev Med Chil 2019 Oct;147(10):1346-1349

Clínica IRAM, Santiago, Chile.

Atypical Fibroxanthoma is an unusual dermal mesenchymal tumor. It especially affects older adults and occurs in areas of sun exposure. We report a 75 years old male with a history of sun exposure without using a hat presenting with a scalp nodule. Read More

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http://dx.doi.org/10.4067/s0034-98872019001001346DOI Listing
October 2019

Clinical and serum lipid profiles and LDLR genetic analysis of xanthelasma palpebrarum with nonfamilial hypercholesterolemia.

J Cosmet Dermatol 2020 Mar 16. Epub 2020 Mar 16.

Ophthalmology, The Second People's Hospital of Hefei, Hefei, Anhui, China.

Background: XP is a flat xanthoma that usually presents as bilateral, symmetrical, soft, yellowish papules over the eyelids. The etiology of XP is unknown, but it may be related to complex heterozygous mutations.

Aims: To investigate the lipid profiles, important clinical characteristics, and low-density lipoprotein receptor (LDLR) gene mutation in the patients suffering from xanthelasma palpebrarum (XP) with nonfamilial hypercholesterolemia. Read More

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http://dx.doi.org/10.1111/jocd.13366DOI Listing

Gastric Xanthoma Associated with Gastric Cancer Development: An Updated Review.

Can J Gastroenterol Hepatol 2020 21;2020:3578927. Epub 2020 Feb 21.

Department of Gastroenterology, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang Province 310009, China.

Gastric xanthelasma (GX) is a rare tumor-like lesion customarily found as an incidental finding due to its asymptomatic appearance. Grossly, it is a well-marked yellow-white plaque created in the lamina propria by microscopic clusters of foamy macrophages. Xanthelasma is rarely correlated with gastric hyperplastic polyps; gastric xanthomas are rare benign lesions that appear to be associated with inflammation of the gastric mucosa. Read More

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http://dx.doi.org/10.1155/2020/3578927DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7054765PMC
February 2020

Diffuse normolipemic plane xanthoma and hepatitis C: chance?

An Bras Dermatol 2020 Mar - Apr;95(2):261-262. Epub 2020 Feb 17.

Department of Dermatology, Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1016/j.abd.2019.08.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7175400PMC

Aspergilloma clinically mimicking Achilles tendon xanthoma in a non-immunocompromised patient: A case report.

Foot Ankle Surg 2020 Feb 5. Epub 2020 Feb 5.

Department of Orthopaedic Surgery, Korea University Guro Hospital, 148 Gurodong-ro, Guro-gu, Seoul, 08308, Republic of Korea. Electronic address:

A 48-year-old woman visited our outpatient clinic complaining of discomfort while wearing shoes due to a large mass around her Achilles tendon. The mass was firm, non-tender, non-reducible, and moved with the Achilles tendon, similar to Achilles tendon xanthoma. However, magnetic resonance imaging revealed multiple heterogeneous, nodular lesions with low T1 and T2 signal intensity, and histological examination of the biopsy specimen revealed the mass to contain hyphae of Aspergillus, indicating aspergilloma. Read More

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http://dx.doi.org/10.1016/j.fas.2020.01.008DOI Listing
February 2020

How should diabetic dyslipidemia be treated?

Authors:
Taher Modarressi

Cleve Clin J Med 2020 01 2;87(1):11. Epub 2020 Jan 2.

Diabetes & Endocrine Associates of Hunterdon, Hunterdon Medical Center, Flemington, NJ.

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http://dx.doi.org/10.3949/ccjm.87c.01003DOI Listing
January 2020

Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profiling.

J Inherit Metab Dis 2020 Jan 28. Epub 2020 Jan 28.

Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, Netherlands.

Background: Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder, characterised by chronic diarrhoea, xanthomas, cataracts, and neurological deterioration. CTX is caused by CYP27A1 deficiency, which leads to abnormal cholesterol and bile acid metabolism. Urinary bile acid profiling (increased m/z 627: glucuronide-5β-cholestane-pentol) serves as diagnostic screening for CTX. Read More

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http://dx.doi.org/10.1002/jimd.12219DOI Listing
January 2020

Parkinsonism with Normal Dopaminergic Presynaptic Terminals in Cerebrotendinous Xanthomatosis.

Mov Disord Clin Pract 2020 Jan 31;7(1):115-116. Epub 2019 Oct 31.

Department of Neurobiology, Neurology and Geriatrics Xuanwu Hospital of Capital Medical University, Beijing Institute of Geriatrics Beijing China.

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http://dx.doi.org/10.1002/mdc3.12846DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6962677PMC
January 2020

[Periocular Necrobiotic Xanthogranuloma with Mono- and Biclonal Gammopathy].

Klin Monbl Augenheilkd 2020 Jan 22;237(1):41-45. Epub 2020 Jan 22.

Augenklinik - Orbitazentrum, Bürgerhospital und Clementine Kinderhospital gGmbH, Frankfurt am Main.

Necrobiotic xanthogranuloma is a very rare disease with granulomatous lesions of the skin with possible association with paraproteinemia. We report two cases of orbital necrobiotic xanthogranuloma in patients with mono/biclonal gammopathy of undetermined significance. Both patients underwent successful conservative treatment. Read More

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http://dx.doi.org/10.1055/a-1032-8516DOI Listing
January 2020

Prevalence of oropharyngeal dysphagia in hereditary spastic paraplegias.

Arq Neuropsiquiatr 2019 12;77(12):843-847

Universidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Ciências Médicas, Porto Alegre RS, Brasil.

Objectives: Hereditary spastic paraplegias (HSP) are a group of genetic diseases characterized by lower limb spasticity with or without additional neurological features. Swallowing dysfunction is poorly studied in HSP and its presence can lead to significant respiratory and nutritional complications. The aim of this study was to evaluate the frequency and clinical characteristics of dysphagia in different types of HSP. Read More

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http://dx.doi.org/10.1590/0004-282X20190180DOI Listing
December 2019

Intralesional injection of bleomycin in the treatment of xanthelasma palpebrarum: A clinical study.

J Cosmet Dermatol 2020 Jan 13. Epub 2020 Jan 13.

Department of Plastic and Reconstructive Surgery, Changzheng Hospital, Navy Medical University (Second Military Medical University), Shanghai, China.

Background: Xanthelasma palpebrarum (XP) is the most common type of cutaneous xanthoma and has been treated with intralesional injection of pingyangmycin effectively. However, bleomycin, which has the same effect in antitumor activity as pingyangmycin, has not been applied in the treatment of XP.

Aims: To explore and assess the treatment of xanthelasma by intralesional injection of bleomycin, which has been widely used as an antitumor antibiotic, for the replacement of pingyangmycin. Read More

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http://dx.doi.org/10.1111/jocd.13258DOI Listing
January 2020

A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis.

Int J Neurosci 2020 Jan 23:1-4. Epub 2020 Jan 23.

Innovation Center for Neurological Disorders, Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.

Cerebrotendinous xanthomatosis (CTX) is an inherited disorder associated with abnormal deposition of cholestenol in the brain and other tissues. Here we report a Chinese family with two affected members of CTX. Clinical data were collected. Read More

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http://dx.doi.org/10.1080/00207454.2020.1713774DOI Listing
January 2020

Necrotic xanthogranuloma with disseminated annular lesions.

An Bras Dermatol 2020 Jan - Feb;95(1):117-119. Epub 2019 Dec 18.

Department of Dermatopathology, Hospital do Servidor Público Estadual (HSPE), São Paulo, SP, Brazil.

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http://dx.doi.org/10.1016/j.abd.2019.03.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058881PMC

A Neuropsychological Profile for Cerebrotendinous Xanthomatosis: A Single-Case Study.

J Int Neuropsychol Soc 2020 Apr 3;26(4):441-449. Epub 2020 Jan 3.

Section of Neurobehavioral Health, Department of Psychiatry & Behavioral Health, The Ohio State University Wexner Medical Center, 3650 Olentangy River Road, Suite 310, Columbus, OH43214, USA.

Objective: Cerebrotendinous xanthomatosis (CTX) belongs to a heterogeneous group of neurological disorders known as autosomal recessive cerebellar ataxias. Low awareness of CTX can result in misdiagnoses in the differential diagnostic process and may limit one's ability to offer suitable recommendations. While neurodegeneration is a recognized manifestation of CTX, there is scant literature to characterize the nature of cortical symptoms and even less detailing of its associated neurocognitive and neuropsychiatric manifestations. Read More

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http://dx.doi.org/10.1017/S1355617719001292DOI Listing

Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study.

Lipids Health Dis 2019 Dec 30;18(1):235. Epub 2019 Dec 30.

Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Sergio Pansini 5, 80131, Naples, Italy.

Background: Cerebrotendinous xanthomatosis (CTX) and Lathosterolosis represent two treatable inherited disorders of cholesterol metabolism that are characterized by the accumulation of cholestanol and lathosterol, respectively. The age of the patients suspected of having these disorders is highly variable due to the very different phenotypes. The early diagnosis of these disorders is important because specific therapeutic treatment could prevent the disease progression. Read More

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http://dx.doi.org/10.1186/s12944-019-1176-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6937658PMC
December 2019

A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene.

Acta Neurol Belg 2019 Dec 24. Epub 2019 Dec 24.

Department of Clinical and Experimental Medicine, University of Foggia, Viale L. Pinto 1, 71122, Foggia, Italy.

Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive defect of the alternative pathway of bile acid biosynthesis, due to the deficiency of mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1. The deficit of sterol 27-hydroxylase raises cholestanol in plasma and tissues of affected patients. Although there is a marked variability of signs, symptoms, severity and age of onset, the main clinical manifestations of CTX include chronic diarrhea, bilateral cataract, tendon xanthomas and neurological dysfunction. Read More

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http://dx.doi.org/10.1007/s13760-019-01267-4DOI Listing
December 2019

Imaging findings in hypophysitis: a review.

Radiol Med 2020 Mar 20;125(3):319-328. Epub 2019 Dec 20.

Department of Neurological and Sensorineural Sciences, Azienda ospedaliero-universitaria Senese, Policlinico "Santa Maria alle Scotte", Siena, Italy.

Hypophysitis (HP) is a rare acute or chronic inflammatory condition of the pituitary gland. The greatest challenge in the management of HP is establishing a diagnosis through clinical criteria and non-invasive methods and predicting the patients' clinical outcome. The aim of this review is to describe the neuroradiological findings of this rare disease, providing some information regarding the possible differential diagnosis in order to avoid unnecessary surgery. Read More

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http://dx.doi.org/10.1007/s11547-019-01120-xDOI Listing

The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies.

Neurol Sci 2020 Apr 20;41(4):943-949. Epub 2019 Dec 20.

Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy.

Objective: To evaluate the safety and effectiveness of chenodeoxycholic acid (CDCA) treatment in patients with cerebrotendinous xanthomatosis (CTX).

Methods: Two retrospective cohort studies were conducted in CTX patients who underwent CDCA treatment: one in the Netherlands (NL; CDCA-STUK-15-001) and one in Italy (IT; CDCA-STRCH-CR-14-001). Eligible patients were aged 2-75 years, had been diagnosed with CTX, and were treated with CDCA orally for ≥1 year. Read More

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http://dx.doi.org/10.1007/s10072-019-04169-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7160076PMC

[Cerebrotendinous xanthomatosis. Report of one case].

Rev Med Chil 2019 May;147(5):658-662

Departamento de Ciencias Neurológicas Oriente, Facultad de Medicina, Universidad de Chile, Santiago, Chile.

Cerebrotendinous xanthomatosis (CTX) is an uncommon autosomal recessive disease caused by deficiency of 27-sterol-hydroxylase that results in an accumulation of cholestanol in the central nervous system, eyes, tendons, and blood vessels. We report a 22-year-old woman with a history of cataract surgery at the age of 14, cholecystectomy due to cholelithiasis at the age of 17 and chronic diarrhea, who presented with a six months period of gait instability and frequent falls. Physical examination revealed a bilateral pyramidal and cerebellar syndrome, with no visible tendon xanthomas. Read More

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http://dx.doi.org/10.4067/S0034-98872019000500658DOI Listing

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.

Expert Rev Neurother 2020 Jan 12;20(1):65-84. Epub 2019 Dec 12.

Myelin Disorders Clinic, Department of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.

: Leukodystrophies constitute heterogenous group of rare heritable disorders primarily affecting the white matter of central nervous system. These conditions are often under-appreciated among physicians. The first clinical manifestations of leukodystrophies are often nonspecific and can occur in different ages from neonatal to late adulthood periods. Read More

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http://dx.doi.org/10.1080/14737175.2020.1699060DOI Listing
January 2020
20 Reads
3.400 Impact Factor

Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis.

Orphanet J Rare Dis 2019 12 3;14(1):282. Epub 2019 Dec 3.

Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, 88 Jiefang Road, Hangzhou, People's Republic of China.

Background: Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27A1) gene with an autosomal recessive pattern of inheritance. To date, only 19 CTX patients from 16 families have been reported in the Chinese population.

Results: Three novel likely pathogenic mutations (c. Read More

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http://dx.doi.org/10.1186/s13023-019-1252-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892200PMC
December 2019

Levels of 7alpha-hydroxycholesterol and/or 7alpha-hydroxy-4-cholest-3-one are the optimal biochemical markers for the evaluation of treatment of cerebrotendinous xanthomatosis.

J Neurol 2020 02 28;267(2):572-573. Epub 2019 Nov 28.

Department of Laboratory Medicine, Division of Clinical Chemistry, Karolinska University Hospital, Huddinge, 141 86, Stockholm, Sweden.

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http://dx.doi.org/10.1007/s00415-019-09650-0DOI Listing
February 2020

Xanthogranulomatous prostatitis mimicking prostatic adenocarcinoma: a diagnostic dilemma.

BMJ Case Rep 2019 Nov 27;12(11). Epub 2019 Nov 27.

Radiodiagnosis, SGPGIMS, Lucknow, Uttar Pradesh, India

We report a case of xanthogranulomatous prostatitis confirmed on histological examination of resected prostate which was initially suspected to be carcinoma on clinical, biochemical and radiological evaluation and also misdiagnosed as high-grade prostatic adenocarcinoma on core biopsy specimen. Read More

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http://dx.doi.org/10.1136/bcr-2019-231945DOI Listing
November 2019

Unique cytologic and histologic features of a suspected cutaneous xanthoma in a dog.

Vet Clin Pathol 2019 Dec 25;48(4):716-720. Epub 2019 Nov 25.

U-Vet Werribee Animal Hospital and Faculty of Veterinary and Agricultural Sciences, The University of Melbourne, Werribee, Vic., Australia.

A 4-year-old spayed female American Staffordshire Terrier presented to the U-Vet Animal Hospital, Werribee, Australia, with a cutaneous mass that had been slowly growing over 12 months. Cytologic evaluation showed cohesive to individualized, vacuolated spindled cells often arranged in a perivascular pattern. The mass was completely excised, and the histopathologic examination demonstrated sheets of vacuolated spindled to round cells expanding the full thickness of the dermis. Read More

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http://dx.doi.org/10.1111/vcp.12804DOI Listing
December 2019

Xanthelasma Palpebrarum: More than Meets the Eye.

Indian J Otolaryngol Head Neck Surg 2019 Oct 7;71(Suppl 1):439-446. Epub 2018 Apr 7.

Department of Otolaryngology - Head and Neck Surgery, Khoo Teck Puat Hospital, 90 Yishun Central, Yishun, 768828 Singapore.

Xanthelasma palpebrarum (XP) is the most common form of cutaneous xanthomata, and is important aesthetically, because of its close relation to the eyes, as well as medically for its association with cardiovascular disease (CVD). To provide avant-garde review discussing the various aspects of XP, including its aetio-pathogenesis and various treatment modalities. A structured Pubmed and Medline were searched for relevant articles. Read More

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http://dx.doi.org/10.1007/s12070-018-1345-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848656PMC
October 2019

Cerebrotendinous xanthomatosis - A case report.

Indian J Radiol Imaging 2019 Jul-Sep;29(3):332-334. Epub 2019 Oct 30.

Department of Radiodiagnosis, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India.

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder resulting from a defective enzyme in bile acid synthesis pathway leading to neurological, ocular, vascular, and musculoskeletal symptoms from deposition of cholestanol and cholesterol in these tissues. We present clinical and imaging features of a 32-year-old female who presented with mental retardation, gait instability and swelling along posterior aspect of both ankles. Imaging studies were performed which revealed spectrum of CTX findings in brain and tendons. Read More

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http://dx.doi.org/10.4103/ijri.IJRI_444_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6857253PMC
October 2019

A Preventable Ataxia: Cerebrotendinous Xanthomatosis.

Ann Indian Acad Neurol 2019 Oct-Dec;22(4):493-496. Epub 2019 Oct 25.

Department of Neurology, Government Medical College, Trivandrum, Kerala, India.

Cerebrotendinous xanthomatosis is an autosomal recessive inborn error of metabolism that is an often missed but treatable cause of hereditary ataxia. We report a case of cerebrotendinous xanthomatosis (CTX) that was diagnosed only after the development of cognitive decline and adult onset ataxia in a 35-year-old man. He had poor scholastic performance in childhood followed by gradually progressive cognitive decline. Read More

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http://dx.doi.org/10.4103/aian.AIAN_126_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6839296PMC
October 2019

Once in a blue moon: Lipid keratopathy and intrastromal hemorrhage in a Mission golden-eyed tree frog (Trachycephalus resinifictrix).

Vet Ophthalmol 2019 Nov;22(6):933-936

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

Mimicking natural anuran biology is a major challenge faced in the husbandry management of frogs, and the quandary of lipid keratopathy in frogs under human care has plagued keepers and practitioners for decades. Unlike corneal lipid dystrophy or lipidosis secondary to degeneration, where there is limited or no vascular in-growth or inflammatory response, lipid keratopathies are associated with vascularization, most often following the appearance of lipid. Hemorrhage from stromal neovascularization has not been described in a frog; however, the presence of vessels in lipid keratopathy certainly heralds the possibility. Read More

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http://dx.doi.org/10.1111/vop.12722DOI Listing
November 2019

The psychopharmacology of Wilson disease and other metabolic disorders.

Handb Clin Neurol 2019 ;165:191-205

Reference Center for Rare Disease, GénoPsy, Centre Hospitalier le Vinatier and Centre de Neuroscience Cognitive, Lyon, France. Electronic address:

Wilson disease (WD) is a hereditary metabolic disorder (HMD) caused by a mutation in the copper-transporting gene ATP7B affecting the liver and central nervous system. About 30% of patients with WD may initially present with psychiatric symptoms, and management can be difficult. More generally, HMDs are a rare but important cause of psychiatric disorders in adolescents and adults. Read More

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http://dx.doi.org/10.1016/B978-0-444-64012-3.00011-3DOI Listing

Drug Discovery and Repurposing Inhibits a Major Gut Pathogen-Derived Oncogenic Toxin.

Front Cell Infect Microbiol 2019 25;9:364. Epub 2019 Oct 25.

Department of Pathology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center (Radboudumc), Nijmegen, Netherlands.

The human intestinal microbiome plays an important role in inflammatory bowel disease (IBD) and colorectal cancer (CRC) development. One of the first discovered bacterial mediators involves toxin (BFT, also named as fragilysin), a metalloprotease encoded by enterotoxigenic (ETBF) that causes barrier disruption and inflammation of the colon, leads to tumorigenesis in susceptible mice, and is enriched in the mucosa of IBD and CRC patients. Thus, targeted inhibition of BFT may benefit ETBF carrying patients. Read More

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http://dx.doi.org/10.3389/fcimb.2019.00364DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6823872PMC
October 2019

Clinical and molecular genetic features of cerebrotendinous xanthomatosis in Taiwan: Report of a novel CYP27A1 mutation and literature review.

J Clin Lipidol 2019 Nov - Dec;13(6):954-959.e1. Epub 2019 Oct 10.

Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan; School of Medicine, College of Medicine, Chang Gung University, Taoyuan, Taiwan. Electronic address:

Background: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disorder associated with mutations in the CYP27A1 gene, and the genetic features of CTX in Taiwanese have not been examined before.

Objectives: We report a new CTX family with a novel mutation in the CYP27A1 gene and analyze the clinical and molecular genetic features of CTX in Taiwan.

Methods: The clinical and molecular genetic features of the two siblings from the new CTX family and the other 7 reported Taiwanese CTX patients were included for analysis. Read More

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http://dx.doi.org/10.1016/j.jacl.2019.10.001DOI Listing
October 2019