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https://www.readbyqxmd.com/read/29346676/familial-hypercholesterolemia-xanthelasma-corneal-arcus-and-tendon-xanthomas-only-in-severe-forms
#1
Lluís Masana
No abstract text is available yet for this article.
January 15, 2018: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/29334954/association-between-non-cholesterol-sterol-concentrations-and-achilles-tendon-thickness-in-patients-with-genetic-familial-hypercholesterolemia
#2
Lucía Baila-Rueda, Itziar Lamiquiz-Moneo, Estíbaliz Jarauta, Rocío Mateo-Gallego, Sofía Perez-Calahorra, Victoria Marco-Benedí, Ana M Bea, Ana Cenarro, Fernando Civeira
BACKGROUND: Familial hypercholesterolemia (FH) is a genetic disorder that result in abnormally high low-density lipoprotein cholesterol levels, markedly increased risk of coronary heart disease (CHD) and tendon xanthomas (TX). However, the clinical expression is highly variable. TX are present in other metabolic diseases that associate increased sterol concentration. If non-cholesterol sterols are involved in the development of TX in FH has not been analyzed. METHODS: Clinical and biochemical characteristics, non-cholesterol sterols concentrations and Aquilles tendon thickness were determined in subjects with genetic FH with (n = 63) and without (n = 40) TX...
January 15, 2018: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29321515/nationwide-survey-on-cerebrotendinous-xanthomatosis-in-japan
#3
Yoshiki Sekijima, Shingo Koyama, Tsuneaki Yoshinaga, Masayoshi Koinuma, Yuji Inaba
Cerebrotendinous xanthomatosis (CTX) is likely to be underdiagnosed and precise epidemiological characteristics of CTX are largely unknown as knowledge on the disorder is based mainly on case reports. We conducted a nationwide survey on CTX to elucidate the frequency, clinical picture, and molecular biological background of Japanese CTX patients. In this first Japanese nationwide survey on CTX, 2541 questionnaires were sent to clinical departments across Japan. A total of 1032 (40.6%) responses were returned completed for further analysis...
January 10, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29296091/xanthelasma-palpebrarum-a-brief-review
#4
REVIEW
Pragya A Nair, Rochit Singhal
Xanthelasma palpebrarum is the most common cutaneous xanthoma, characterized by yellowish plaques over eyelids - most commonly, over the inner canthus of the upper lid. It is triggered by hyperlipidemia, thyroid dysfunction, and diabetes mellitus. Xanthelasma results from perivascular infiltration of mono- and multinucleated foam cells within lipid-laden cytoplasmic vacuoles in the superficial reticular dermis. Different modalities of treatment, such as simple surgical excision, cryotherapy, chemical peeling with trichloroacetic acid, radiofrequency, and laser, are used in the treatment of xanthelasma palpebrarum...
2018: Clinical, Cosmetic and Investigational Dermatology
https://www.readbyqxmd.com/read/29246730/a-case-of-sitosterolemia-misdiagnosed-as-familial-hypercholesterolemia-a-4-year-follow-up
#5
Wei Wang, Long Jiang, Pan-Pan Chen, Yue Wu, Peng-Yu Su, Lu-Ya Wang
Familial hypercholesterolemia (FH) is a common inherited disease that exhibits significantly increased levels of low-density lipoprotein cholesterol (LDL-C), skin or tendon xanthomas, corneal arcus and premature coronary heart disease (CHD). The prevalence of heterozygous FH is nearly 1/300 worldwide, and the prevalence of homozygous FH (HoFH) is 1/160,000 - 1/300,000. The Dutch Lipid Clinic Network diagnostic (DLCN) criteria is the most commonly recommended criteria for diagnosing FH patients. However, another disease with a similar clinical phenotype to FH must be differentiated from FH...
November 11, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29246610/clinical-and-molecular-characterization-of-hereditary-spastic-paraplegias-a-next-generation-sequencing-panel-approach
#6
Daniela Burguez, Márcia Polese-Bonatto, Laís Alves Jacinto Scudeiro, Ingemar Björkhem, Ludger Schöls, Laura Bannach Jardim, Ursula Matte, Maria Luiza Saraiva-Pereira, Marina Siebert, Jonas Alex Morales Saute
BACKGROUND: Molecular diagnosis of hereditary spastic paraplegias (HSP) is a difficult task due to great clinical and genetic heterogeneity. We aimed to characterize clinical and molecular findings of HSP families from Rio Grande do Sul, Brazil; and to evaluate the diagnostic yield of a next-generation sequencing (NGS) panel with twelve HSP-related genes. METHODS: A consecutive series of HSP index cases with familial recurrence of spasticity, consanguinity or thin corpus callosum (TCC) were included in this cross-sectional study...
December 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29243280/mixed-histiocytosis-a-case-report-and-published-work-review
#7
Zhongtao Li, Yun Li, Weiping Liu, Jinfan Li, Lin Wang
Histiocytoses are a group of heterogeneous diseases that encompass Langerhans cell histiocytosis and non-Langerhans cell histiocytosis. Cutaneous plane xanthoma is a non-Langerhans cell histiocytic disorder characterized by the presence of yellow-orange plaques on the face, neck, upper trunk and extremities. It can appear in association with several systemic diseases (including dyslipidemias, paraproteinemias, cardiovascular diseases and lymphoproliferative disorders), but is rarely connected with Langerhans cell histiocytoses...
December 15, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/29242796/bilateral-femoral-neck-fractures-in-cerebrotendinous-xanthomatosis-treated-by-hip-arthroplasties-the-first-case-report-and-literature-review
#8
Witchuree Wejjakul, Swist Chatmaitri, Thongek Wattanarojanaporn, Anuwat Pongkunakorn, Chupong Ittiwut, Vorasuk Shotelersuk
Introduction: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by mutations of the CYP27A1 gene and deficiency of the sterol-27-hydroxylase enzyme in bile acid biosynthesis. It is characterized by the accumulation of cholestanol and bile alcohols in plasma, the formation of xanthomatous lesions in various tissues, and organ degeneration. This disorder is also associated with osteoporosis and increased risk of fracture. To date, only two CTX patients with femoral neck fractures have been reported...
September 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/29241760/miscellaneous-skin-disease-and-the-metabolic-syndrome
#9
Sila Seremet, Mehmet Salih Gurel
The link between the metabolic syndrome (MetS) and skin diseases is increasingly important, with new associations being discovered. The association between MetS and psoriasis or MetS and hidradenitis suppurativa is well known, although the relationship between MetS and various autoimmune or inflammatory diseases has only recently attracted interest. Some inflammatory skin diseases, such as vitiligo, scleredema, recurrent aphthous stomatitis, Behçet disease, rosacea, necrobiosis lipoidica, granuloma annulare, skin tags, knuckle pads, and eruptive xanthomas, have possible associations with MetS...
January 2018: Clinics in Dermatology
https://www.readbyqxmd.com/read/29233637/compound-heterozygous-familial-hypercholesterolemia-in-a-chinese-boy-with-a-de%C3%A2-novo-and-transmitted-low-density-lipoprotein-receptor-mutation
#10
Yizhe Ma, Yingyun Gong, Abhimanyu Garg, Hongwen Zhou
BACKGROUND: Homozygous familial hypercholesterolemia is characterized by extremely elevated serum low-density lipoprotein cholesterol (LDL-C) levels and increased risk of cardiovascular complications due to biallelic mutations in LDL receptor (LDLR). OBJECTIVE: We present a 10-year-old Chinese homozygous familial hypercholesterolemia boy with biallelic LDLR mutations including an extremely rare de novo mutation. METHODS: Detailed family history and clinical and biochemical data were gathered from the pedigree...
October 26, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29183344/oral-verruciform-xanthoma-and-erythroplakia-associated-with-chronic-graft-versus-host-disease-a-rare-case-report-and-review-of-the-literature
#11
Giorgia Capocasale, Vera Panzarella, Pietro Tozzo, Rodolfo Mauceri, Vito Rodolico, Dorina Lauritano, Giuseppina Campisi
BACKGROUND: Oral verruciform xanthoma is an uncommon benign lesion. Although oral verruciform xanthoma occurs in healthy individuals, it has been also reported in association with some inflammatory conditions. The aim of this study is to report a case of oral verruciform xanthoma associated with chronic graft-versus-host disease and to review the literature on this topic. CASE PRESENTATION: A 47-year-old Caucasian male presented to the Sector of Oral Medicine "V...
November 28, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29169939/the-association-between-hypercholesterolemia-and-sitosterolemia-and-report-of-a-sitosterolemia-kindred
#12
Eliot A Brinton, Paul N Hopkins, Robert A Hegele, Andrew S Geller, Eliana Y Polisecki, Margaret R Diffenderfer, Ernst J Schaefer
BACKGROUND: Sitosterolemia is associated with increases in intestinal sterol absorption, low-density lipoprotein cholesterol (LDL-C), and cardiovascular disease risk. OBJECTIVE: We examined the relationship between hypercholesterolemia and sitosterolemia in a large population and report a new sitosterolemia case. METHODS: Plasma sterol concentrations were measured by gas chromatography/mass spectrometry, and LDL-C by direct assay. RESULTS: Of 207,926 subjects tested, 4...
October 27, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29144045/the-triad-of-pruritus-xanthomas-and-cholestasis-two-cases-and-a-brief-review-of-the-literature
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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