5,979 results match your criteria Xanthomas


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

Xanthoma striatum palmare and biliary tract atresia: An unusual association.

Pediatr Dermatol 2020 Jun 15. Epub 2020 Jun 15.

Department of Dermatology, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

Cutaneous xanthomas develop as a result of lipid deposition in the dermis and may be a manifestation of various systemic diseases. The morphology and anatomic location of xanthomas are often a clue to the underlying cause. Xanthoma striatum palmare (XSP) is classically associated with dysbetalipoproteinemia and rarely observed in hepatic disorders. Read More

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http://dx.doi.org/10.1111/pde.14225DOI Listing

Dissection of Clinical and Gene Expression Signatures of Familial versus Multifactorial Chylomicronemia.

J Endocr Soc 2020 Jun 15;4(6):bvaa056. Epub 2020 May 15.

Lipidology Unit, Community Genomic Medicine Center, Department of Medicine, Université de Montréal and ECOGENE-21 Clinical and Translational Research Center, Chicoutimi, Quebec, Canada.

Familial chylomicronemia syndrome (FCS) is a rare disorder associated with chylomicronemia (CM) and an increased risk of pancreatitis. Most individuals with CM do not have FCS but exhibit multifactorial CM (MCM), which differs from FCS in terms of risk and disease management. This study aimed to investigate clinical and gene expression profiles of FCS and MCM patients. Read More

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http://dx.doi.org/10.1210/jendso/bvaa056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7278277PMC

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

Evidence for improved survival with treatment of homozygous familial hypercholesterolemia.

Curr Opin Lipidol 2020 Jun 8. Epub 2020 Jun 8.

Research Institute of the McGill University Health Centre, Royal Victoria Hospital, Montreal, Quebec.

Purpose Of Review: Homozygous familial hypercholesterolemia (HoFH) is an orphan disease caused by biallelic mutations at the LDL receptor (LDLR) gene, with a prevalence estimated at 1 : 250 000 to 1 : 630 000. HoFH is characterized by extremely elevated plasma levels of LDL-C greater than 10 mmol/l (>387 mg/dl), tendinous and cutaneous xanthomas in youth and premature atherosclerotic cardiovascular disease (ASCVD). The expected prevalence varies from country to country depending on the presence of founder effects, genetic probability and life expectancy. Read More

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http://dx.doi.org/10.1097/MOL.0000000000000686DOI Listing

Effects of castration on atherosclerosis in Yucatan minipigs with genetic hypercholesterolemia.

PLoS One 2020 5;15(6):e0234131. Epub 2020 Jun 5.

Department of Clinical Medicine, Heart Diseases, Aarhus University, Aarhus, Denmark.

Background: Low plasma testosterone, either spontaneous or as a result of androgen deprivation therapy for prostate cancer, is associated with an increased risk of cardiovascular events. The underlying mechanism in humans is not understood. Experimental studies in mice have shown that castration facilitates atherogenesis and may increase signs of plaque vulnerability. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0234131PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7274396PMC

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

Xanthomas Can Be Misdiagnosed and Mistreated in Homozygous Familial Hypercholesterolemia Patients: A Call for Increased Awareness Among Dermatologists and Health Care Practitioners.

Glob Heart 2020 Feb 28;15(1):19. Epub 2020 Feb 28.

Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah Al Mukarramah, SA.

Background: Familial hypercholesterolemia (FH) is an autosomal dominant inherited genetic disorder and results in the development of coronary artery disease (CAD). Clinical diagnosis of homozygous HH patients is usually straightforward because persistent hypercholesterolemia can produce xanthoma and corneal arcus. However, xanthoma may also be misdiagnosed as skin lesions and could therefore be mistreated. Read More

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http://dx.doi.org/10.5334/gh.759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218775PMC
February 2020

[Bilateral temporal bone xanthoma associated with hyperlipidemia].

Vestn Otorinolaringol 2020 ;85(2):49-52

Irkutsk Regional Pathologicanatomical Bureau, Irkutsk, Russia.

Presented clinical observation of a 42-year-old patient with bilateral xanthoma of the temporal bone, who has been treated for a long time for bilateral external otitis media, repeatedly mastoiditis. In this case, hyperlipidemia was detected only after the diagnosis of xanthoma was established. In this case, histological and clinical data helped to diagnose xanthomas and exclude chronic otitis media: the preservation of the auditory ossicles and hearing despite a large destruction of the temporal bone; satisfactory condition of the patient for many years in the presence of volumetric formations in both temporal areas extending into the cranial cavity, spreaded from the brain substance and not accumulating contrast according to computer and magnetic resonance imaging; normalization of hearing against the background of prolonged heating of the body - 'melting' of fats and opening the ear canal. Read More

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http://dx.doi.org/10.17116/otorino20208502149DOI Listing
January 2020

Use of artificial intelligence for detection of gastric lesions by magnetically controlled capsule endoscopy.

Gastrointest Endosc 2020 May 26. Epub 2020 May 26.

National Clinical Research Center for Digestive Diseases; Department of Gastroenterology, Changhai Hospital, Second Military Medical University, Shanghai, China. Electronic address:

Background And Aims: Magnetically controlled capsule endoscopy (MCE) has become an efficient diagnostic modality for gastric diseases. We developed a novel automatic gastric lesion detection system to assist in diagnosis and reduce inter-physician variations. This study aimed to evaluate the diagnostic capability of the computer-aided detection system for MCE images. Read More

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http://dx.doi.org/10.1016/j.gie.2020.05.027DOI Listing

Right Parietal Skull Xanthoma Characterized as a Metastatic Deposit.

World Neurosurg 2020 May 11;140:56-59. Epub 2020 May 11.

Division of Neurosurgery, Department of Surgery, Khoo Teach Puat Hospital, Singapore.

Background: Xanthomas are benign lipomatous deposits that can be found systemically in various tissues including bones. Their presence in the skull remains a rare entity. Despite their benign characteristics, imaging modalities are often unable to distinguish them from malignant lesions. Read More

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http://dx.doi.org/10.1016/j.wneu.2020.05.015DOI Listing
May 2020
2.417 Impact Factor

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

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

Eruptive Xanthomas as Cutaneous Manifestation of Familial Combined Dyslipidaemia in an Eleven-year-old: A Case Report.

JNMA J Nepal Med Assoc 2020 Mar;58(223):170-173

Department of Dermatology, Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.

Xanthomas are subcutaneous lipid deposits containing macrophages loaded with cholesterol and cholesterol esters. Although quite common in adults, xanthomas in pediatric population are infrequent and when present, may represent a cutaneous manifestation of underlying lipoprotein disorders which most often are familial. We report a case of an eleven-year-old female child, with multiple eruptive xanthomas of skin since two years of age, a positive family history and deranged lipid profile consistent with possible familial hypercholesterolemia. Read More

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Probucol Trial for Secondary Prevention of Atherosclerotic Events in Patients with Coronary Heart Disease (PROSPECTIVE).

J Atheroscler Thromb 2020 Apr 24. Epub 2020 Apr 24.

Sumitomo Hospital.

Aims: Although intensive statin therapy reduced cardiovascular risks, cardiovascular events have not been completely prevented. Probucol is a potent antioxidant and reduces tendon xanthomas in familial hypercholesterolemia patients despite reduction of high-density lipoprotein (HDL)-cholesterol (HDL-C). We investigated whether probucol can reduce cardiovascular events on top of conventional lipid-lowering therapy in patients with coronary heart disease (CHD). Read More

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http://dx.doi.org/10.5551/jat.55327DOI 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

[Eruptive xanthomas as the first sign of severe hypertriglyceridaemia and diabetic debut].

Semergen 2020 Apr 1. Epub 2020 Apr 1.

Departamento de Dermatología, Hospital Clínico Universitario Lozano Blesa, Zaragoza, España.

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http://dx.doi.org/10.1016/j.semerg.2020.02.009DOI 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

Practice of lipoprotein apheresis and short-term efficacy in children with homozygous familial hypercholesterolemia: Data from an international registry.

Atherosclerosis 2020 04 18;299:24-31. Epub 2020 Feb 18.

Department of Paediatrics, Amsterdam University Medical Centers, Amsterdam, the Netherlands.

Background And Aims: Homozygous familial hypercholesterolemia (hoFH) may cause life-threatening atherosclerotic cardiovascular disease in childhood. Lipoprotein apheresis (LA) is considered a pivotal treatment option, but data on its efficacy, safety and optimal performance are limited. We therefore established an international registry on the execution and outcomes of LA in HoFH children. Read More

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http://dx.doi.org/10.1016/j.atherosclerosis.2020.01.031DOI Listing
April 2020
3.994 Impact Factor

[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

Compound heterozygous mutations in ABCG5 or ABCG8 causing Chinese familial Sitosterolemia.

J Gene Med 2020 Mar 12:e3185. Epub 2020 Mar 12.

Department of Pediatrics, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui, China.

Background: Sitosterolemia (STSL), also known as phytosterolemia, is a rare autosomal recessive hereditary disease caused by mutations in the ABCG5 or ABCG8 genes. The disease is a result of disorders in lipoprotein metabolism, and is characterized by tendinous and tuberous xanthomas, elevated plasma cholesterol and phytosterol levels, and thrombocytopenia and hemolytic anemia in several patients. The manifestations of STSL are diverse and can easily be misdiagnosed. Read More

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http://dx.doi.org/10.1002/jgm.3185DOI 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

Features of Sitosterolemia in Children.

Am J Cardiol 2020 May 8;125(9):1312-1316. Epub 2020 Feb 8.

Department of Echocardiography, Beijing Anzhen Hospital, Capital Medical University, Beijing, China. Electronic address:

Sitosterolemia is a rare lipid metabolism disease with heterogeneous manifestations. Atherosclerosis can occur in children, and therefore, early detection, diagnosis, and treatment of this disease are important. We studied 18 pediatric patients with sitosterolemia who showed a significant increase in plasma lipid levels and analyzed their clinical, biochemical, and genetic characteristics. Read More

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http://dx.doi.org/10.1016/j.amjcard.2020.01.048DOI Listing
May 2020
3.276 Impact Factor

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

Gastric Xanthoma in the Pediatric Population: A Possible Herald for Malignancy?

Pediatr Gastroenterol Hepatol Nutr 2020 Jan 8;23(1):110-114. Epub 2020 Jan 8.

Department of Gastroenterology and Nutrition, Johns Hopkins All Children's Hospital, St. Petersburg, FL, USA.

Gastric xanthoma is frequently an incidental finding on upper endoscopy in adults. Gastric xanthomas (GX) can be mistaken for malignancies and warrant prompt histologic diagnosis. The underlying etiology is not fully understood; however, it has been linked to gastritis and gastric cancer. Read More

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http://dx.doi.org/10.5223/pghn.2020.23.1.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6966225PMC
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

An Infant with Milky Serum and a Rare Mutation.

Indian Pediatr 2020 01;57(1):73-74

Department of Pediatrics, Kalinga Institute of Medical Science,Bhubaneswar, Odisha, India.

A 40-day-infant having milky serum, eruptive xanthomas, hepatosplenomegaly, lipemia retinalis, high cholesterol and triglyceride, was found to have lipoprotein lipase (LPL) deficiency on genetic workup. Triglyceride decreased with dietary fat restriction, medium chain triglyceride and fibrates. LPL deficiency in early infancy can be treated with pharmacological and dietary interventions. Read More

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January 2020

Primary Intraosseous Xanthomas of the Jaws: A Series of Six Cases Including an Example with Formation of Apoptosis-Related Hyaline Globules, So-Called "Thanatosomes".

Head Neck Pathol 2020 Jan 8. Epub 2020 Jan 8.

Division of Oral and Maxillofacial Pathology, Department of Diagnostic and Biological Sciences, School of Dentistry, University of Minnesota, 515 Delaware Street SE 16-206B, Minneapolis, MN, 55455, USA.

Primary intraosseous xanthomas of the jaws (PIXJ) are rare and predominantly affect the posterior mandible (86%) of normolipemic patients, with a mean age of 30 years and no gender predilection. Clinically, PIXJ exhibit indolent biologic behavior; curettage is considered treatment of choice. Only 36 PIXJ have been reported. Read More

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http://dx.doi.org/10.1007/s12105-020-01126-2DOI 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

Familial hypercholesterolemia: A complex genetic disease with variable phenotypes.

Eur J Med Genet 2020 Apr 25;63(4):103831. Epub 2019 Dec 25.

Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università Degli Studi di Napoli Federico II, Via S. Pansini 5, 80131 Napoli, CEINGE Biotecnologie Avanzate s.c. a r.l, Via Gaetano Salvatore 486, 80145, Napoli, Italy. Electronic address:

Familial hypercholesterolemia (FH) is the most frequent genetic disease and is characterized by elevation of LDL-cholesterol that accumulates in tissues leading to premature atherosclerosis and sometime tendon xanthomas. Main causes of FH are pathogenic variants in the genes encoding the LDL receptor (LDLR), its ligand - the apolipoprotein B (APOB) - or Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9). Rarer causes include variants in genes encoding apolipoprotein E (APOE) and the signal-transducing adaptor family member 1 (STAP1). Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.103831DOI Listing

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
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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