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https://www.readbyqxmd.com/read/28078666/pediatric-erdheim-chester-disease-with-aggressive-skin-manifestations
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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...
December 12, 2016: 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
#9
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
https://www.readbyqxmd.com/read/27903575/early-severe-coronary-artery-disease-and-aortic-coarctation-in-a-child-with-familial-hypercholesterolaemia
#10
Dina Labib, Haytham Soliman, Kareem Said, Khaled Sorour
An 11-year-old boy presented with easy fatigability, multiple xanthomas, and absent pedal pulsations. Laboratory workup showed severe hypercholesterolaemia and non-invasive imaging revealed 'normally functioning' bicuspid aortic valve and tight aortic coarctation. Coronary angiography showed severe right coronary artery (RCA) stenosis. Medical treatment resulted in significant improvement of dyslipidaemia. We successfully performed balloon dilation and stenting of his coarctation, as well as percutaneous coronary intervention for RCA lesion...
November 30, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27894614/giant-vulvar-verruciform-xanthoma-can-mimic-a-common-vulvar-mass-genital-warts
#11
Sa Ra Lee, Ji Hyun Jeon, Kyungah Jeong, Hye Won Chung
No abstract text is available yet for this article.
November 25, 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27888347/different-phenotypes-in-identical-twins-with-cerebrotendinous-xanthomatosis-case-series
#12
Dénes Zádori, László Szpisjak, László Madar, Viktória Evelin Varga, Bernadett Csányi, Krisztina Bencsik, István Balogh, Mariann Harangi, Éva Kereszty, László Vécsei, Péter Klivényi
Cerebrotendinous xanthomatosis (CTX) is a rare, genetically determined error of metabolism. The characteristic clinical symptoms are diarrhea, juvenile cataracts, tendon xanthomas and neuropsychiatric alterations. The aim of this study is to present a pair of identical adult twins with considerable differences in the severity of phenotype. With regards to neuropsychiatric symptoms, the predominant features were severe Parkinsonism and moderate cognitive dysfunctions in the more-affected individual, whereas these alterations in the less-affected patient were only very mild and mild, respectively...
November 25, 2016: Neurological Sciences
https://www.readbyqxmd.com/read/27858369/cerebrotendinous-xanthomatosis-presenting-with-infantile-spasms-and-intellectual-disability
#13
Austin Larson, James D Weisfeld-Adams, Tim A Benke, Penelope E Bonnen
Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism leading to progressive multisystem disease. Symptoms often begin in the first decade of life with chronic diarrhea, cataracts, developmental delay, intellectual disability, and cerebellar or pyramidal dysfunction. Later manifestations include tendon xanthomas, polyneuropathy, and abnormal neuroimaging. Pathogenic biallelic variants in CYP27A1 leading to compromised function of sterol 27-hydroxylase result in accumulation of detectable toxic intermediates of bile acid synthesis rendering both genetic and biochemical testing effective diagnostic tools...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27848170/vegas-verruciform-genital-associated-xanthoma-a-comprehensive-literature-review
#14
REVIEW
Katherine M Stiff, Philip R Cohen
INTRODUCTION: Verruciform xanthoma is a wart-like benign lesion. The classic histologic appearance consists of foamy histiocytes within elongated dermal papillae and epithelial acanthosis. The lesion most commonly occurs in the oral cavity, but has been reported in extra-oral sites such as the penis, scrotum, and vulva. The clinical and histologic characteristics of verruciform genital-associated (Vegas) xanthomas of the penis, scrotum, and vulva are reviewed. METHODS: PubMed was used to search the following term: verruciform xanthoma...
November 15, 2016: Dermatology and Therapy
https://www.readbyqxmd.com/read/27816806/spectrum-of-mutations-in-homozygous-familial-hypercholesterolemia-in-india-with-four-novel-mutations
#15
Nitika Setia, Renu Saxena, Anjali Arora, Ishwar C Verma
BACKGROUND AND AIMS: Homozygous familial hypercholesterolemia (FH) is a rare but serious, inherited disorder of lipid metabolism characterized by very high total and LDL cholesterol levels from birth. It presents as cutaneous and tendon xanthomas since childhood, with or without cardiac involvement. FH is commonly caused by mutations in three genes, i.e. LDL receptor (LDLR), apolipoprotein B (ApoB) and PCSK9. We aimed to determine the spectrum of mutations in cases of homozygous FH in Asian Indians and evaluate if there was any similarity to the mutations observed in Caucasians...
December 2016: Atherosclerosis
https://www.readbyqxmd.com/read/27815622/-cutaneous-manifestations-of-metabolic-syndrome
#16
REVIEW
G Holzer, B Straßegger, B Volc-Platzer
BACKGROUND: Metabolic syndrome (MetS) is a cluster of risk factors which increase the risk of developing cardiovascular diseases and type II diabetes mellitus. High blood pressure, hyperglycemia, dyslipidemia, and central obesity are the main risk factors. While MetS is not a dermatological diagnosis per se, several cutaneous manifestations can serve as a clinical indicator for impending MetS and facilitate an early diagnosis and therapy in order to prevent its long-term sequelae...
December 2016: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/27799830/exceptionally-elevated-triglyceride-in-severe-lipemia-retinalis
#17
Han Y Yin, Roberto Warman, Edward H Suh, Anny Ms Cheng
PURPOSE: To report a case of successful treatment for severe lipemia retinalis with extreme severe hypertriglyceridemia (sHTG). DESIGN: Observational case report. OBSERVATIONS: A 6-week-old infant with severe lipemia retinalis manifested diffuse creamy retinal vessels complicated with vulvar xanthomas. Extreme sHTG with 185-folds of the normal level was reported. Chromosome microarray and lipid gene sequencing confirmed a homozygous lipoprotein lipase gene coding mutation...
2016: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/27777923/primary-intraosseus-xanthoma-involving-the-proximal-femur-in-a-normolipidemic-patient-a-case-report
#18
Won Chul Shin, Nam Hoon Moon, Kuen Tak Suh
We report the case of a 25-year-old woman presenting with left hip pain. A lesion was found in the proximal femoral metaphysis. Benign bone tumor, such as intraosseous lipoma or liposclerosing myxofibrous tumor, was suspected based on simple radiographs and magnetic resonance images. Curettage of the lesion and bone grafting was performed. Histologic findings reflected primary intraosseous xanthoma of the proximal femur. Laboratory tests revealed the patient to be normolipidemic, while immunoelectrophoretic fractionation of lipoproteins revealed normal values for alpha, pre-beta, beta, and chylomicrons...
September 2016: Hip & Pelvis
https://www.readbyqxmd.com/read/27771838/central-xanthoma-of-the-jaw-bones-a-benign-tumor
#19
Yeshwant B Rawal, Srinivasa R Chandra, James M Hall
Extragnathic xanthomas are seen in the bones or as soft tissue masses. They are often associated with hyperlipidemia and are considered as reactive or metabolic lesions. Only 19 cases of xanthomas of the jaws have been reported so far in the English literature. A total of ten cases of central xanthoma of the jaw bones were identified from the Oral and Maxillofacial Pathology biopsy services of the University of Washington and the Tufts University School of Dental Medicine, between the years 2000-2016. The demographic and clinical information on these cases was tabulated logically on the basis of age, gender, location and presence or absence of symptoms, extragnathic lesions and serum hyperlipidemia...
October 22, 2016: Head and Neck Pathology
https://www.readbyqxmd.com/read/27771677/cerebrotendinous-xanthomatosis-without-skin-changes-diagnostic-delay-and-confirmation-by-genetic-analysis
#20
Shilpa D Kulkarni, Meenal Garg, Rafat Sayed
BACKGROUND: Cerebrotendinous xanthomatosis is an inherited lipid storage disease manifesting with infantile onset diarrhea, cataracts, xanthomas and adult-onset neurological dysfunction with cerebellar signs and neuropathy. CASE CHARACTERISTICS: 10-year-old boy presented with progressive ataxia, neuropathy and cataracts. Over 6 years, he developed dementia, kyphoscoliosis with worsening ataxia, and neuropathy. OUTCOME: Sterol analysis and CYP27A1 sequencing confirmed the diagnosis...
October 8, 2016: Indian Pediatrics
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