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https://www.readbyqxmd.com/read/28209012/a-case-of-verruciform-xanthoma-arising-in-the-tongue
#1
Yukihiro Hiraishi, Itaru Tojyo, Norifumi Kiga, Koji Tanimoto, Shigeyuki Fujita
Verruciform Xanthoma (VX) is a rare lesion of the oral cavity. Histologically, it is characterized by papillary or verrucous proliferation of squamous epithelium and numerous foam cells. VX arising in the tongue is comparatively rare, as most cases of VX in oral cavity occur in gingiva. A 65-year-old woman was referred to our clinic with a mass on the left side of the tongue. The lesion was yellowish, and its surface was granulated. The patient had neither tenderness nor any symptoms. The lesion was clinically diagnosed to be a benign tumor, and hence, biopsy was performed, according to which it was diagnosed as hyperparakeratosis...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28203044/a-case-of-sitosterolemia-due-to-compound-heterozygous-mutations-in-abcg5-clinical-features-and-treatment-outcomes-obtained-with-colestimide-and-ezetimibe
#2
Sahoko Ono, Junko Matsuda, Aki Saito, Takenobu Yamamoto, Wataru Fujimoto, Hitomi Shimizu, Sumito Dateki, Kazunobu Ouchi
Sitosterolemia is a rare, autosomal recessively inherited disorder of lipid metabolism caused by mutations in the "ATP-binding cassette, subfamily G" member 5 and 8 proteins (encoded by the ABCG5 and ABCG8 genes, respectively), which play critical roles in the intestinal and biliary excretion of plant sterols. We report the clinical features and treatment outcomes of an 18-month-old Japanese girl with sitosterolemia, who presented with multiple linear and intertriginous xanthomas around the joint areas. Serum lipid analyses revealed elevated levels of total cholesterol (T-Chol: 866 mg/dL), low density lipoprotein-cholesterol (LDL-C: 679 mg/dL), and plant sterols (sitosterol: 24...
January 2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28197037/urinary-bladder-xanthomatous-cystitis
#3
Shrenik J Shah, Vineet Ajitsaria, Vineet Singh
Xanthoma cystitis of urinary bladder is a rare entity and may present as an intravesical mass. A 38-year-old female presented with abdominal pain and imaging was done which was suggestive of a malignant mass with surrounding tissue infiltration. Partial cystectomy was performed, and histological examination of the mass showed xanthomatous cystitis.
January 2017: Indian Journal of Urology: IJU: Journal of the Urological Society of India
https://www.readbyqxmd.com/read/28195266/splenic-histiocyte-rich-pseudotumor-following-chemotherapy-for-non-hodgkin-diffuse-large-b-cell-lymphoma
#4
A G Abdou, M Kandil, M S Eldien, R Abdallah
Chemotherapy may induce mass lesion in rare conditions, which can be easily mistaken as a residual tumor mass. In this report, we describe a mass affecting spleen in a patient received chemotherapy for non Hodgkin diffuse large B cell lymphoma. This mass proved histologically to be non neoplastic formed of sheets of histiocytes and xanthoma cells, which is called histiocyte-rich pseudotumor. This report describes this rare lesion and the possible differential diagnosis.
September 2016: Pathologica
https://www.readbyqxmd.com/read/28185417/left-main-coronary-angioplasty-of-a-9-year-old-child-with-bioresorable-vascular-scaffold
#5
Hasmukh Ravat, Swati Garekar, Vishal Changela
Familial hypercholesterolemia is an autosomal dominant disorder due to mutations in the low-density lipoprotein receptor gene, characterized by skin and tendon xanthomas, xanthelasmas, and increased risk of premature coronary artery disease. Here, we report a case of 9-year-old girl who presented with angina and dyspnoea on exertion with xanthomas and an elevated serum cholesterol and triglyceride. She had severe stenosis of the left main coronary artery (LMCA) requiring angioplasty and placement of Bioresorbable vascular scaffold (BVS)...
February 10, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/28181222/systematic-review-of-laser-therapy-in-xanthelasma-palpebrarum
#6
REVIEW
Austin H Nguyen, Adam M Vaudreuil, Christopher J Huerter
Xanthelasma palpebrarum is a benign periorbital xanthoma with substantial cosmetic and psychosocial burden for patients. Treatment modalities should be considered based on efficacy as well as cosmetic outcome. Laser modalities in the treatment of xanthelasma palpebrarum have not been comprehensively reviewed and discussed. Accordingly, this study seeks to systematically and critically review the available literature discussing laser treatment of xanthelasma palpebrarum. PubMed was systematically reviewed for reports on laser therapy in the treatment of xanthelasma palpebrarum...
March 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28179607/half-a-century-tales-of-familial-hypercholesterolemia-fh-in-japan
#7
Hiroshi Mabuchi
Familial hypercholesterolemia (FH) is a disease characterized by a triad: elevated low-density lipoprotein (LDL) cholesterol, tendon xanthomas, and premature coronary heart disease. Thus, it can be considered as a model disease for hypercholesterolemia and atherosclerotic cardiovascular disease (ASCVD). For the diagnosis of hetero-FH, the detection of Achilles tendon xanthomas by palpation or on X-ray is an indispensable diagnostic skill in clinical lipidology. To prevent the under-diagnosis and under-treatment of FH, the diagnostic criteria should be more convenient and user-friendly...
February 8, 2017: Journal of Atherosclerosis and Thrombosis
https://www.readbyqxmd.com/read/28163452/outcome-of-flap-surgeries-in-dermatosurgical-unit-at-a-tertiary-care-centre-in-india-with-a-review-of-literature
#8
Gorur Kalappa Divya, Kanathur Shilpa, Sacchidanand Sarvajnamurthy, Eswari Loganathan, Biju Vasudevan, G B Chitrika, C Madhura, D V Lakshmi
INTRODUCTION: Flap surgeries are an excellent choice for closing large defects following trauma, excision of carcinomas or removal of large lesions. This article is a prospective interventional study of various flap surgeries performed at a tertiary care centre with their outcome in dermatosurgical unit. MATERIALS AND METHODS: A total of 35 flap surgeries performed from January 2012 to December 2014 formed part of the study. Data were recorded for each case including age, sex, indications and type of flap surgery and any occurrence of complications...
October 2016: Journal of Cutaneous and Aesthetic Surgery
https://www.readbyqxmd.com/read/28149940/wart-on-fire-a-rare-entity-of-verruciform-xanthoma-arising-on-a-lower-leg-in-a-setting-of-chronic-lymphedema
#9
Simon F Roy, Robert Prokopetz, Yasmine Ayroud, Laura Pickett, Ivan V Litvinov
No abstract text is available yet for this article.
January 2017: JAAD Case Reports
https://www.readbyqxmd.com/read/28101197/multiple-large-xanthomas-a-case-report
#10
Chen Zhao, Mingxiang Kong, Li Cao, Qiong Zhang, Yong Fang, Weiwei Ruan, Xiaofan Dou, Xiaohui Gu, Qing Bi
A 23-year-old male patient presented with multiple large masses in his elbows, buttocks, knees, Achilles tendons, feet, shoulders and hands. The large masses in the elbows and buttocks measured ~6×5×5 cm and ~7×5×4 cm, respectively. The patient presented with an elevated level of low-density lipoprotein cholesterol, and had been previously diagnosed with homozygous familial hypercholesterolemia (FH) and multiple xanthomas. Local surgical excisions were performed to remove the massive xanthomas from the elbows and buttocks, and histological analysis of the surgical specimens confirmed the previous diagnosis of homozygous FH (HoFH)...
December 2016: Oncology Letters
https://www.readbyqxmd.com/read/28098593/familial-dysbetalipoproteinemia-an-underdiagnosed-lipid-disorder
#11
Charlotte Koopal, A David Marais, Frank L J Visseren
PURPOSE OF REVIEW: To review pathophysiological, epidemiological and clinical aspects of familial dysbetalipoproteinemia; a model disease for remnant metabolism and remnant-associated cardiovascular risk. RECENT FINDINGS: Familial dysbetalipoproteinemia is characterized by remnant accumulation caused by impaired remnant clearance, and premature cardiovascular disease. Most familial dysbetalipoproteinemia patients are homozygous for apolipoprotein ε2, which is associated with decreased binding of apolipoprotein E to the LDL receptor...
January 16, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/28078666/pediatric-erdheim-chester-disease-with-aggressive-skin-manifestations
#12
H-H Su, W Wu, Y Guo, H-D Chen, S-J Shan
Erdheim-Chester disease (ECD), one type of systemic non-Langerhans cell histiocytosis, is uncommon and characterized by the accumulation of CD68+/CD1a- foamy histiocytes. It is extremely rare in children. The skin lesions of pediatric ECD was not systemically described before. We report a case of ECD in a 3.5 year old Chinese boy. The patient present with generalized skin and bone involvement for 3 years duration. Marked generalized annular maculopapular lesions with central atrophy which differed from previously reported adult xanthoma-like papules or periorbital xanthelasma-like lesions...
January 12, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28073194/verruciform-xanthoma-of-the-penis-a-rare-benign-lesion-that-simulates-carcinoma
#13
Aldo Franco De Rose, Mattia Tosi, Guglielmo Mantica, Nataniele Piol, Carlo Toncini, Carlo Terrone
Verruciform xanthoma is a rare and benign condition predominantly affecting the oral cavity, but also skin and female anogenital mucosa. It can be flat, papular-warty or crateriform-cystic. Furthermore it can simulate HPV viral lesion such as condyloma and malignant neoplasia such as verrucous squamous cell carcinoma. An accurate diagnosis is important to avoid overtreatment, considering it is a benign lesion that does not require any radical treatment. We present an extremely rare case of a 64 year-old man with a small, slighty raised, gray reddish-dotted lesion on the left portion of the ventral side of his glans...
December 30, 2016: Archivio Italiano di Urologia, Andrologia
https://www.readbyqxmd.com/read/28053911/verruciform-xanthoma-in-the-hard-palate-a-case-report-and-literature-review
#14
Alexandre Simões Garcia, Otávio Pagin, Paulo Sérgio da Silva Santos, Denise Tostes Oliveira
Oral verruciform xanthoma (OVX) is an uncommon lesion that appears on the oral mucosa. The aim of this paper was to discuss the probable etiopathogenesis of OVX in the hard palate, reinforcing the importance of including this lesion in the differential diagnosis of verrucous lesions. A 43-year-old male smoker presented with a painless lesion with a verrucous surface and erythematous spots on the hard palate. Excisional biopsy revealed oral mucosa consisting of hyperkeratosis, acanthosis, and elongated rete pegs...
December 2016: Journal of the Korean Association of Oral and Maxillofacial Surgeons
https://www.readbyqxmd.com/read/28028493/mutation-detection-in-chinese-patients-with-familial-hypercholesterolemia
#15
Ran Du, Liang-Liang Fan, Min-Jie Lin, Zhi-Jian He, Hao Huang, Ya-Qin Chen, Jing-Jing Li, Kun Xia, Shui-Ping Zhao, Rong Xiang
BACKGROUND: Familial hypercholesterolemia (FH) is the first molecularly and clinically characterized genetic disease of lipid metabolism. It is an autosomal dominant disorder with significantly elevated levels of total cholesterol and low density of lipoprotein cholesterol in serum, which would lead to extensive xanthomas and premature coronary heart disease. Mutations in low density lipoprotein receptor (LDLR), proprotein convertase subtilisin/kexin type 9 and Apo lipoprotein B-100 (APOB) have been identified to be the underlying cause of this disease...
2016: SpringerPlus
https://www.readbyqxmd.com/read/28012879/dermatofibroma-of-the-eyelid-with-monster-cells
#16
Frederick A Jakobiec, Yufei Tu, Fouad R Zakka, Arthur K F Tong
Dermatofibromas are most frequently encountered in women on the lower extremities, often after minor trauma. A 64-year-old woman developed a recurrent lesion of the right lower eyelid. It harbored "monster cells" that were large, with either multiple nuclei or a single, large, convoluted and hyperchromatic nucleus. The presence of these cells does not signify a malignant transformation. The background cells were either histiocytoid (many were adipophilin-positive), spindled cells, or dendritiform cells without mitoses...
December 21, 2016: Survey of Ophthalmology
https://www.readbyqxmd.com/read/27968902/homozygous-familial-hypercholesterolaemia-in-china-a-genotype-phenotype-analysis-of-cross-sectional-data
#17
Long Jiang, Ze-Min Kuang, Xiao-Dong Pan, Ren-Qiang Yang, Xiao-Shu Cheng, Lu-Ya Wang
BACKGROUND: Homozygous familial hypercholesterolaemia is a rare life-threatening disease characterised by markedly elevated LDL cholesterol concentrations and accelerated atherosclerosis. Few studies have focused specifically on this group of patients, especially in China. We set out to investigate the phenotypical characteristics and the genotype-phenotype correlations of homozygous familial hypercholesterolaemia in China. METHODS: In this analysis of cross-sectional data, we collected data from patients with suspected homozygous familial hypercholesterolaemia from ten clinical hospitals in mainland China from 2003 to 2015...
October 2016: Lancet
https://www.readbyqxmd.com/read/27967296/new-jag1-mutation-causing-alagille-syndrome-presenting-with-severe-hypercholesterolemia-case-report-with-emphasis-on-genetics-and-lipid-abnormalities
#18
Zeina C Hannoush, Herminia Puerta, Mislen S Bauer, Ronald B Goldberg
CONTEXT: Alagille syndrome is a rare autosomal dominant genetic disorder caused by defects in the Notch signaling pathway that involves multiple organ systems. Bile duct paucity is the main characteristic feature of the disease, which often leads to cholestatic hypercholesterolemia. CASE DESCRIPTION: We report the case of a male infant who at one year of age had developed failure to thrive, jaundice, intermittent pruritus and multiple diffuse symmetrical skin xanthomas...
December 14, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27957702/imaging-of-plantar-fascia-disorders-findings-on-plain-radiography-ultrasound-and-magnetic-resonance-imaging
#19
REVIEW
Ferdinando Draghi, Salvatore Gitto, Chandra Bortolotto, Anna Guja Draghi, Gioia Ori Belometti
Plantar fascia (PF) disorders commonly cause heel pain and disability in the general population. Imaging is often required to confirm diagnosis. This review article aims to provide simple and systematic guidelines for imaging assessment of PF disease, focussing on key findings detectable on plain radiography, ultrasound and magnetic resonance imaging (MRI). Sonographic characteristics of plantar fasciitis include PF thickening, loss of fibrillar structure, perifascial collections, calcifications and hyperaemia on Doppler imaging...
February 2017: Insights Into Imaging
https://www.readbyqxmd.com/read/27914685/protein-gene-product-9-5-pgp9-5-expression-in-benign-cutaneous-mesenchymal-histiocytic-and-melanocytic-lesions-comparison-with-cellular-neurothekeoma
#20
Grace Y Wang, Rosalynn M Nazarian, Lili Zhao, Alexandra C Hristov, Rajiv M Patel, Douglas R Fullen, May P Chan
Cellular neurothekeoma (CNTK) frequently enters the differential diagnosis of a benign dermal cellular proliferation. Diagnosis often relies on immunohistochemistry including the use of protein gene product 9.5 (PGP9.5). A previous study demonstrated PGP9.5 expression across a wide variety of soft tissue neoplasms. We explored the utility of this antibody in distinguishing CNTK from other benign dermal-based lesions. A cohort of CNTK (n=7) and benign cutaneous lesions of neural (n=28), fibrohistiocytic (n=23), fibroblastic (n=25), histiocytic (n=18), myofibroblastic (n=7), smooth muscle (n=14), and melanocytic (n=12) differentiations were immunostained with PGP9...
January 2017: Pathology
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