keyword
MENU ▼
Read by QxMD icon Read
search

xanthoma

keyword
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
#1
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...
November 30, 2016: Pathology
https://www.readbyqxmd.com/read/27903575/early-severe-coronary-artery-disease-and-aortic-coarctation-in-a-child-with-familial-hypercholesterolaemia
#2
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
#3
Sa Ra Lee, Ji Hyun Jeon, Kyungah Jeong, Hye Won Chung
Vulvar xanthoma, especially grown in verruciform, can mimic a common gynecologic vulvar disease, genital warts.
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
#4
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
#5
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
#6
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
#7
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...
October 14, 2016: Atherosclerosis
https://www.readbyqxmd.com/read/27815622/-cutaneous-manifestations-of-metabolic-syndrome
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/27759696/xanthomatized-neutrophilic-dermatosis-in-a-patient-with-myelodysplastic-syndrome
#13
Gina J Ferris, Stephanie Fabbro, Alejandro Gru, Jessica Kaffenberger
We present an original case report of a 58-year-old man with a history of histiocytoid Sweet and myelodysplastic syndrome who presented with a new onset of tender plaques on his oral commissures. A biopsy revealed a dense dermal neutrophilic infiltrate, leukocytoclasis without frank vasculitis, and, most notably, the presence of many xanthomatized cells. Clinical presentation and histologic features were most consistent with an acute neutrophilic dermatosis, which we believe to be a xanthomized variant of Sweet syndrome...
October 18, 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27726830/eruptive-xanthoma-warning-sign-of-systemic-disease
#14
Gillian Roga, Madhukhara Jithendriya
No abstract text is available yet for this article.
October 2016: Cleveland Clinic Journal of Medicine
https://www.readbyqxmd.com/read/27725557/xanthoma-of-the-duodenum
#15
Masaya Iwamuro, Takehiro Tanaka, Fumio Otsuka, Hiroyuki Okada
No abstract text is available yet for this article.
2016: Internal Medicine
https://www.readbyqxmd.com/read/27721911/periorbital-hyperpigmentation-in-patients-with-xanthelasma-palpebrarum-an-interesting-observation
#16
Eftychia Platsidaki, Anargyros Kouris, Efthymia Agiasofitou, Christina Antoniou, Georgios Kontochristopoulos
Background: Xanthelasma palpebrarum refers to xanthomas that occur more often near the inner canthus of the eyelid. Periorbital hyperpigmentation presents as a dark area surrounding the eyelids. Objective: In the present study, the authors examined the prevalence and the associated factors of periorbital hyperpigmentation among patients with xanthelasma. Methods: One hundred and fourteen patients with xanthelasma palpebrarum were examined for the presence of dark circles. Detailed questionnaires regarding the history of diabetes, hypothyroidism, smoking status, and weight were completed by all patients...
April 2016: Journal of Clinical and Aesthetic Dermatology
https://www.readbyqxmd.com/read/27709260/solitary-subcutaneous-sarcoidosis-with-massive-chronic-prepatellar-bursal-involvement
#17
Thumanoon Ruangchaijatuporn, Eric Y Chang, Christine B Chung
A 56-year-old man presented with a painless prepatellar mass of the left knee. MR images demonstrated a large, well-defined mass with heterogeneous intermediate signal intensity on T1- and proton density-weighted images. Mild, heterogeneous enhancement was noted after the intravenous administration of gadolinium. Diagnostic imaging included atypical soft-tissue infection, fibrogranulomatous reaction, gouty tophus, rheumatoid nodule and xanthoma or possibly malignancy. The histopathological examination revealed sarcoidosis involving the prepatellar bursa...
October 6, 2016: Skeletal Radiology
https://www.readbyqxmd.com/read/27689205/non-gastric-gastrointestinal-xanthomas-case-series-and-literature-review
#18
Cristina Díaz Del Arco, Ángel Álvarez Sánchez, M Jesús Fernández Aceñero
Gastrointestinal xanthomas are infrequent non-neoplastic lesions characterized by the accumulation of foam cells in the lamina propria. They are commonly seen in association with dyslipidemia, chemotherapy or radiotherapy, and infections in immunosuppressed patients. However, no clear connection to hyperlipidemia has been found. They occur more frequently in the stomach, and are very rare in the small bowel and esophagus. We identified all cases of non-gastric xanthoma or xanthomatosis reported in the English literature by searching the PubMed database and retrospectively reviewed the clinical, endoscopic, and histopathologic features of the 11 cases of non-gastric gastrointestinal xanthomas diagnosed in our hospital...
September 2016: Journal of Gastrointestinal and Liver Diseases: JGLD
https://www.readbyqxmd.com/read/27680221/a-case-of-cerebrotendinous-xanthomatosis-mimicking-the-clinical-phenotype-of-mitochondrial-disease-with-a-novel-frame-shift-mutation-c-43_44-delgg-in-cyp27a1-gene-exon-1
#19
Junpei Koge, Shintaro Hayashi, Hiroo Yamaguchi, Takahisa Tateishi, Hiroyuki Murai, Jun-Ichi Kira
A 37-old-male with a history of early childhood mental retardation was admitted to our hospital. He experienced recurrent syncopes at 23 years old, and at age 35 gait disturbance and hearing impairment developed gradually and worsened over time. His grandparents were in a consanguineous marriage. He was of short stature and absent of tendon xanthomas. Neurological examinations revealed scanning speech, dysphagia, right sensorineural hearing loss, spasticity in both upper and lower extremities, and spastic gait...
September 28, 2016: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/27678445/tendon-xanthomas-not-always-familial-hypercholesterolemia
#20
Charlotte Koopal, Frank L J Visseren, A David Marais, Jan Westerink, Wilko Spiering
Tendon xanthoma are most commonly associated with Familial Hypercholesterolemia, but the differential diagnosis includes sitosterolemia and cerebrotendinous xanthomatosis (CTX). The case presented here is of a 48-year old male with large tendon xanthomas attributable to CTX. CTX is a rare, recessive disorder caused by mutations in the CYP27A1 gene. The resultant defect in bile acid synthesis leads to cholestanol deposition in different tissues in the body, including tendons. CTX is associated with neurologic symptoms and a reduced life expectancy...
September 2016: Journal of Clinical Lipidology
keyword
keyword
3774
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"