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https://www.readbyqxmd.com/read/29144045/the-triad-of-pruritus-xanthomas-and-cholestasis-two-cases-and-a-brief-review-of-the-literature
#1
Hadley J Pearson, Joy L Mosser, Stephanie K Jacks
When encountered in children, xanthomas are most commonly associated with a group of disorders known as familial hyperlipidemias. Aside from cosmetic concerns, these xanthomas are typically asymptomatic, but when generalized pruritus is a prominent associated symptom, clinicians should consider a different set of diagnoses that includes cholestasis of the liver. In this article we present two illustrative cases of children with cholestatic disease, pruritus, and xanthomas and discuss other disorders that may include this triad...
November 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/29125930/primary-xanthoma-of-the-mandible-a-case-report
#2
Anik Saha, Shreya Tocaciu, Balanand Subramanian
Xanthomas are common cutaneous and subcutaneous lesions that occur due to altered metabolic or endocrinal function. They are found on skin and around tendon sheaths in individuals with dyslipidemias. In extremely rare cases, they can present as isolated intrabony lesions in otherwise healthy individuals. The isolated intrabony lesions are referred to as primary xanthomas. This report describes a case of an incidentally found primary xanthoma, its management, and follow-up in an otherwise healthy patient.
October 16, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29118481/role-of-cytology-in-early-diagnosis-of-cerebrotendinous-xanthomas
#3
Shreosee Roy, Arghya Bandyopadhyay, Kaushik Bose, Soumi Bhattacharyya
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disease characterized by widespread tissue deposition of two neutral sterols, cholestenol and cholesterol, resulting in tendinous xanthomas, juvenile cataracts, progressive neurological defects, and premature death from arteriosclerosis. Because it is a treatable cause of cerebellar ataxia and dementia, its early diagnosis is desirable. Here, we have reported the case of an 11-year-old boy with this disorder who was diagnosed based on the cytological findings of fine needle aspiration and clinical features...
October 2017: Journal of Cytology
https://www.readbyqxmd.com/read/29096864/care-high-cascade-screening-and-registry-for-high-cholesterol-in-germany
#4
Nina Schmidt, Tanja Grammer, Ioanna Gouni-Berthold, Ulrich Julius, Ursula Kassner, Gerald Klose, Christel König, Ulrich Laufs, Britta Otte, Elisabeth Steinhagen-Thiessen, Christoph Wanner, Winfried März
INTRODUCTION: Familial hypercholesterolemia (FH) is an inherited disorder of the LDL metabolism, leading to cardiovascular disease, even at young age. This risk can be significantly lowered by early diagnosis and treatment. About 270,000 patients affected in Germany are not diagnosed correctly and only a small number is treated properly. To improve FH diagnosis in the general population a cascade screening and registry data is warranted, yet missing in Germany. This project aims to fill this gap...
November 2017: Atherosclerosis. Supplements
https://www.readbyqxmd.com/read/29072176/premature-coronary-artery-disease-due-to-homozygous-familial-hypercholesterolemia-in-a-12-year-old-girl
#5
Filiz Ekici, Salih Özçobanoğlu, Fırat Kardelen
BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is a rare inherited metabolic disease, caused by low-density lipoprotein receptor abnormality. Patients with HoFH have an increased risk for cardiovascular complication (CVC) that usually occurs in the first decade of life. We report a twelve years-old girl with unpredicted presentation for coronary artery disease (CAD) and she was found to have HoFH. CASE REPORT: A 12 years old girl was admitted to our unit with syncope...
October 26, 2017: Balkan Medical Journal
https://www.readbyqxmd.com/read/29071304/esophageal-xanthoma-presence-of-m2-macrophages-suggests-association-with-late-inflammatory-and-reparative-processes
#6
Karina Uehara, Hidehiko Iwashita, Yasuka Tanabe, Kiyoto Kurima, Mariko Oshiro, Shinichiro Kina, Atsuko Ota, Akinori Iwashita, Takao Kinjo
Esophageal xanthoma is a rare lesion which is an asymptomatic small yellowish polyp, and most of the reported cases were solitary lesion. Histologically, aggregations of foam cells are found under the papillary hypertrophic squamous epithelium and the foam cells express CD68. The etiology of esophageal xanthoma is unknown. The focal irritation of the esophageal mucosa and infiltrated inflammatory cells are presumed to contribute to its pathogenesis. Although the pathogenesis may be associated with inflammation, the type and nature of the macrophages remain unclear...
2017: Open Medicine (Warsaw, Poland)
https://www.readbyqxmd.com/read/29042820/necrobiotic-xanthogranuloma-scleritis-in-a-case-of-granulomatosis-with-polyangiitis-wegener-s-granulomatosis
#7
Narumon Keorochana, Kanaspana Klanarongran, Kantang Satayasoontorn, Sumapa Chaiamnuay
The purpose of this study was to describe a case of necrobiotic xanthogranuloma scleritis in a 53-year-old male with unilateral progressive visual loss, scleritis, prolonged fever, and multiple mononeuropathy. Scleral biopsy showed necrosis with small abscess, and the pathological tissues revealed submucosal infiltration of mononucleated foamy histiocytes (xanthoma cells), hemosiderin-laden macrophages, neutrophils, lymphocytes, plasma cells, and erythrocytes without Touton giant cells or cholesterol clefts...
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/29038147/imputation-of-baseline-ldl-cholesterol-concentration-in-patients-with-familial-hypercholesterolemia-on-statins-or-ezetimibe
#8
Isabelle Ruel, Sumayah Aljenedil, Iman Sadri, Émilie de Varennes, Robert A Hegele, Patrick Couture, Jean Bergeron, Eric Wanneh, Alexis Baass, Robert Dufour, Daniel Gaudet, Diane Brisson, Liam R Brunham, Gordon A Francis, Lubomira Cermakova, James M Brophy, Arnold Ryomoto, G B John Mancini, Jacques Genest
BACKGROUND: Familial hypercholesterolemia (FH) is the most frequent genetic disorder seen clinically and is characterized by increased LDL cholesterol (LDL-C) (>95th percentile), family history of increased LDL-C, premature atherosclerotic cardiovascular disease (ASCVD) in the patient or in first-degree relatives, presence of tendinous xanthomas or premature corneal arcus, or presence of a pathogenic mutation in the LDLR, PCSK9, or APOB genes. A diagnosis of FH has important clinical implications with respect to lifelong risk of ASCVD and requirement for intensive pharmacological therapy...
October 16, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/29033816/verruciform-xanthoma-of-a-lower-lip-lesion-a-new-case-and-review-of-the-literature
#9
Filiz Cebeci, Ayşegül Verim, Adnan Somay, Emel Çalıkoğlu
A non-smoking man in his seventh decade presented with a lesion he had had for about 5 years on the right external surface of the lip 1 mm from the vermilion border. On physical examination, a yellowish-coloured, non-tender, verrucous mass of 0.5 × 0.7 cm was observed. A histopathological examination of the first 3-mm punch biopsy was non-diagnostic. The histopathological evaluation of a second, 5-mm-deep punch biopsy made by a pathology expert in oral lesions revealed a diagnosis of verruciform xanthoma. The key to the diagnosis of verruciform xanthoma is to recognize xanthoma cells...
May 2017: Case Reports in Dermatology
https://www.readbyqxmd.com/read/29031846/xanthoma-disseminatum
#10
Hui Zi Gong, He Yi Zheng, Jun Li
No abstract text is available yet for this article.
October 11, 2017: Lancet
https://www.readbyqxmd.com/read/29024285/effect-of-a-high-cholesterol-diet-on-lipoprotein-metabolism-and-xanthoma-formation-in-rabbits
#11
Hao Hu, Yak Gao, Jing Tang, Yaozh Zhao, Hui Wang, Hua Jiang
BACKGROUND: Xanthelasma is the most common type of cutaneous xanthoma and often occurs on the eyelids. Xanthoma has been reported to be highly correlated with abnormal lipoprotein metabolism. AIMS: In this study, we wanted to investigate the effects of a high-cholesterol diet on xanthoma formation and lipoprotein metabolism in rabbits. METHODS: In animals fed with high-cholesterol diet, deteced plasma lipid [ie, total cholesterol (TC), triglycerides (TG), and low-density lipoprotein cholesterol (L-DLC)] levels and pathology of xanthoma...
October 11, 2017: Journal of Cosmetic Dermatology
https://www.readbyqxmd.com/read/29018145/acute-pancreatitis-with-eruptive-xanthoma
#12
Serkan Duzayak, Zeynel Abidin Sayiner, Suna Erkılıç, Huseyin Serhat Inaloz
Eruptive xanthomas are benign skin lesions caused by localised deposition of lipids in the dermis. Xanthomas can present as early manifestations of systemic disorders, which are typically caused by elevated levels of serum triglycerides and uncontrolled diabetes. Early recognition and treatment of the underlying condition decreases morbidity and mortality. After treatment of the underlying metabolic disorders, lesions mostly disappear without leaving scars. We present a case with multiple yellowish, erythematous papules on the extremities suggestive of eruptive xanthomas admitted to our hospital with acute pancreatitis...
October 9, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28980151/epidemiology-diagnosis-and-treatment-of-cerebrotendinous-xanthomatosis-ctx
#13
REVIEW
Gerald Salen, Robert D Steiner
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by mutations in the cytochrome P450 CYP27A1 gene that result in production of a defective sterol 27-hydroxylase enzyme. CTX is associated with abnormally high levels of cholestanol in the blood and accumulation of cholestanol and cholesterol in the brain, tendon xanthomas, and bile. Hallmark clinical manifestations of CTX include chronic diarrhea, bilateral cataracts, tendon xanthomas, and neurologic dysfunction...
November 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28979880/cutaneous-xanthomas-in-a-young-child-familial-hypercholesterolemia
#14
Sawan Kumar, Prajwala Gupta, Minakshi Bhardwaj, Deepak Sachan
No abstract text is available yet for this article.
September 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28965110/clinicopathological-assessment-of-gastric-xanthoma-as-potential-predictive-marker-of-gastric-cancer
#15
Shinji Kitamura, Naoki Muguruma, Koichi Okamoto, Toshihito Tanahashi, Akira Fukuya, Kumiko Tanaka, Daisaku Fujimoto, Tetsuo Kimura, Hiroshi Miyamoto, Yoshimi Bando, Hisashi Takeuchi, Masako Shiba, Tetsuji Takayama
BACKGROUND/AIMS: Gastric xanthomas are frequently observed in the stomach as small yellowish plaques or nodules. A close relationship among Helicobacter pylori infection, atrophic gastritis, and xanthomas has been reported. We assessed the clinicopathological features of gastric cancer with or without xanthomas. METHODS: A total of 91 patients who were diagnosed as having early gastric cancer were enrolled. We evaluated the gastritis status using scores for gastritis and atrophy, positivity of H...
September 30, 2017: Digestion
https://www.readbyqxmd.com/read/28946145/impact-of-cyclooxygenase-2-1195-g-carrier-genotype-associated-with-intestinal-metaplasia-and-endoscopic-findings-based-on-kyoto-classification
#16
Yasuhiro Kodaka, Seiji Futagami, Atsushi Tatsuguchi, Hiroshi Yamawaki, Hitomi Sato, Satomi Hashimoto, Tetsuro Kawagoe, Nobue Ueki, Hiroyuki Nagoya, Yuuta Maruki, Kazumasa Miyake, Katya Gudis, Choitsu Sakamoto, Katsuhiko Iwakiri
BACKGROUND/AIMS: We aimed to clarify whether cyclooxygenase-2 (COX-2) and microsomal prostaglandin E synthase-1 (mPGES-1) genotypes were associated with certain histological findings and endoscopical appearances based on Kyoto classification. METHODS: We enrolled 285 Helicobacter pylori-infected gastritis patients. Genotypes of COX-2 1195, COX-2 1290, mPGES-1, interleukin-1β (IL-1β) 511 and tumour necrosis factor-α (TNF-α) 308 were analyzed. Genotyping was performed by polymerase chain reaction...
2017: Digestion
https://www.readbyqxmd.com/read/28940376/dermatoscopic-features-of-xanthoma-disseminatum
#17
Keshavamurthy Vinay, Gitesh U Sawatkar, Uma N Saikia, Sunil Dogra
No abstract text is available yet for this article.
November 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28924999/bone-marrow-xanthomas-associated-with-hypertriglyceridemia
#18
Nelson C N Chan, Chak-Chung Chan, Natalie P H Chan
No abstract text is available yet for this article.
September 19, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28918161/clinical-and-pathological-significance-of-cutaneous-manifestations-in-anca-associated-vasculitides
#19
REVIEW
Laure Frumholtz, Sara Laurent-Roussel, Olivier Aumaître, François Maurier, Guillaume Le Guenno, Agnes Carlotti, Alexiane Dallot, Jean Louis Kemeny, Laurent Antunes, Nicolas Froment, Sylvie Fraitag, Jonathan London, Alice Berezne, Benoît Terris, Claire Le Jeunne, Luc Mouthon, Selim Aractingi, Loïc Guillevin, Nicolas Dupin, Benjamin Terrier
OBJECTIVES: Cutaneous manifestations (CM) in ANCA-associated vasculitides (AAV) are frequent, but data on clinical significance and clinical-pathological correlations are lacking. METHODS: We conducted a multicenter, retrospective study including 1553 AAV patients. Clinical, biological and pathological features have been analyzed, and tissue samples from 46 biopsies were reviewed in a blind manner. RESULTS: CM were more frequent in EGPA (53...
November 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28895539/frequency-and-clinical-and-molecular-aspects-of-familial-hypercholesterolemia-in-an-endocrinology-unit-in-ciudad-bol%C3%A3-var-venezuela
#20
Marcos M Lima-Martínez, Mariela Paoli, Alejandra Vázquez-Cárdenas, María Teresa Magaña-Torres, Ornella Guevara, María Carolina Muñoz, Alberto Parrilla-Alvarez, Yuliangelys Márquez, Ana Medeiros, Mafalda Bourbon
OBJECTIVE: To assess the frequency and the clinical, biochemical, and molecular aspects of familial hypercholesterolemia (FH) in subjects attending an endocrinology unit. METHODS: An observational, descriptive study evaluating 3,140 subjects attending the endocrinology unit of Centro Médico Orinoco in Ciudad Bolívar, Venezuela, from 7 January 2013 to 9 December 2016. The index cases were selected using the Dutch Lipid Clinic Network criteria. Plasma lipid levels were measured, and a molecular analysis was performed by DNA sequencing of the LDLR and APOB genes...
October 2017: Endocrinología, diabetes y nutrición
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