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https://www.readbyqxmd.com/read/29778561/severe-xanthomatosis-in-heterozygous-familial-hypercholesterolemia
#1
Sumayah Aljenedil, Isabelle Ruel, Kevin Watters, Jacques Genest
BACKGROUND: Familial hypercholesterolemia is a genetic lipoprotein disorder characterized by elevated plasma low-density lipoprotein cholesterol level, (tendinous xanthomas, xanthelasmas, and premature arcus corneus) and early onset atherosclerotic cardiovascular disease. Familial hypercholesterolemia is caused by mutations in the low-density lipoprotein receptor, apolipoprotein B or proprotein convertase subtilisin/kexin type 9 genes. Rare mutations in low-density lipoprotein receptor adapter protein 1, APOE p...
April 3, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29742369/xanthoma-striatum-palmare
#2
Viktoria F Koehler, Klaus G Parhofer
New England Journal of Medicine, Volume 378, Issue 19, May 2018.
May 10, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29727697/central-xanthoma-of-the-jaw-in-association-with-noonan-syndrome
#3
Nicholas J Olson, Rocco R Addante, Francine B de Abreu, Vincent A Memoli
Xanthomas are histiocytic lesions of the skin, soft tissue and bone and are generally considered to be reactive in nature. When they arise in the bones of the jaw, they are referred to as central xanthomas. New evidence supports the hypothesis that central xanthomas are a separate and distinct entity from their extragnathic counterparts. Noonan syndrome (NS) is an autosomal dominant disorder that has been associated with giant cell lesions which also commonly occur in the jaw. We present a case of a 15year-old-male with NS who presented with a radiolucent lesion of the mandible that on excision, was found to be a central xanthoma...
May 1, 2018: Human Pathology
https://www.readbyqxmd.com/read/29716801/eruptive-xanthoma-in-the-setting-of-hypertriglyceridemia-and-pancreatitis
#4
Matthew Stark, Jonathan Stuart
BACKGROUND: Undifferentiated dermatologic complaints are often encountered in the emergency department. While a patient's exposures, risk factors, and comorbidities may help guide emergency department evaluation, the accurate diagnosis of dermatologic findings is critical to allowing rapid identification and treatment of disease. CASE: In this vignette we discuss a case of eruptive xanthoma in a 33-year-old male with diabetic ketoacidosis and pancreatitis. DISCUSSION: Dermatologic complaints pose a unique challenge to the emergency physician...
April 25, 2018: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29672900/metastatic-melanoma-with-balloon-histiocytoid-cytomorphology-after-treatment-with-immunotherapy-a-histologic-mimic-and-diagnostic-pitfall
#5
Maya Farah, Priyadharsini Nagarajan, Carlos A Torres-Cabala, Jonathan L Curry, Rodabe N Amaria, Jennifer Wargo, Hussein Tawbi, Doina Ivan, Victor G Prieto, Michael T Tetzlaff, Phyu P Aung
Epithelioid cells with foamy cytoplasm (histiocytoid features) are typical histopathologic findings among benign and malignant histiocytic neoplasms such as xanthoma and atypical fibroxanthoma. However, these changes are unusual in melanoma, which is typically composed of nested and variably pigmented atypical epithelioid cells. Here, we report a patient with metastatic melanoma in lymph nodes presenting with prominent balloon cell/histiocytoid features expressing melanocytic markers, after treatment with nivolumab...
April 19, 2018: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/29575286/planar-xanthomas-secondary-to-post-transplantation-cholangiopathy-in-a-16-month-old-boy
#6
Nirali Patel, Adam Norberg, Marcia Hogeling
Planar xanthomas in children represent rare dermatologic findings associated with abnormalities in lipid metabolism. While planar xanthomas in Alagille's syndrome have been well described in the literature, there have been no cases reported of eruptive xanthomas in pediatric liver transplant patients. Herein we report a case of a 16-month-old boy status post-liver transplantation who presents with planar xanthomas secondary to cholangiopathy. A brief review of xanthomas and the related literature is also provided...
March 25, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29571349/two-cases-of-surgical-management-of-supravalvular-aortic-stenosis-in-familial-hypercholesterolemia
#7
Takashi Kakuta, Tomoyuki Fujita, Satsuki Fukushima, Naonori Kawamoto, Yorihiko Matsumoto, Kizuku Yamashita, Yusuke Shimahara, Hatsue Ishibashi-Ueda, Mariko Harada-Shiba, Junjiro Kobayashi
Homozygous familial hypercholesterolemia is a rare autosomal dominant disorder caused by gene mutations of the low-density lipoprotein receptor, generally characterized by three major signs-hyper low-density lipoprotein cholesterolemia, tendon/skin xanthomas, and premature atherosclerosis disease-beginning in childhood and including supravalvular aortic stenosis. To the best of our knowledge, only a few successful surgical cases for supravalvular aortic stenosis in these patients have been reported. We report two cases of homozygous familial hypercholesterolemia with severe supravalvular aortic stenosis and coronary artery disease associated with very small aortic root, managed by aortic root replacement concomitant with coronary artery bypass graft surgery, which resulted in excellent postoperative outcomes...
April 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29560583/treatment-with-chenodeoxycholic-acid-in-cerebrotendinous-xanthomatosis-clinical-neurophysiological-and-quantitative-brain-structural-outcomes
#8
Maria Del Mar Amador, Marion Masingue, Rabab Debs, Foudil Lamari, Vincent Perlbarg, Emmanuel Roze, Bertrand Degos, Fanny Mochel
BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare neurodegenerative disease related to sterols metabolism. It affects both central and peripheral nervous systems but treatment with chenodeoxycholic acid (CDCA) has been reported to stabilize clinical scores and improve nerve conduction parameters. Few quantitative brain structural studies have been conducted to assess the effect of CDCA in CTX. METHODS AND RESULTS: We collected retrospectively clinical, neurophysiological, and quantitative brain structural data in a cohort of 14 patients with CTX treated by CDCA over a mean period of 5 years...
March 20, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29556915/sporadic-minute-pharyngeal-xanthomas-detected-incidentally-during-esophagogastroduodenoscopy-a-case-series
#9
Kenta Hamada, Yoji Takeuchi, Chiaki Kubo, Yasuhiko Tomita, Masayasu Omori, Noriya Uedo, Ryu Ishihara, Yasushi Yamasaki, Sachiko Yamamoto, Tomofumi Akasaka, Noboru Hanaoka, Koji Higashino, Hiroyuki Okada, Hiroyasu Iishi
Pharyngeal xanthomas are considered rare, and no reports have described their endoscopic appearance under magnifying or image-enhanced endoscopy. We report three cases of asymptomatic sporadic pharyngeal xanthoma that were detected incidentally during routine esophagogastroduodenoscopy. All the patients were men and had a solitary lesion of about 1 mm in size. Two of the lesions were located in the oropharynx, while one was in the hypopharynx. Non-magnifying endoscopy showed yellowish lesions, and magnifying endoscopy showed an aggregation of minute yellowish nodules with tortuous microvessels on their surface...
March 19, 2018: Head and Neck Pathology
https://www.readbyqxmd.com/read/29507570/unmasking-of-severe-hypertriglyceridaemia-associated-with-antipsychotic-therapy-by-atypical-eruptive-xanthomas
#10
Magdalena Kiedrowicz, Radosław M Kiedrowicz, Joanna Pietrzak-Halińska, Mariusz Pietrzak, Romuald Maleszka
No abstract text is available yet for this article.
October 2017: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/29493071/long-wave-plasma-radiofrequency-ablation-for-treatment-of-xanthelasma-palpebrarum
#11
Adone Baroni
Xanthelasma palpebrarum is the most common type of xanthoma affecting the eyelids. It is characterized by asymptomatic soft yellowish macules, papules, or plaques over the upper and lower eyelids. Many treatments are available for management of xanthelasma palpebrarum, the most commonly used include surgical excision, ablative CO2 or erbium lasers, nonablative Q-switched Nd:YAG laser, trichloroacetic acid peeling, and radiofrequency ablation. This study aims to evaluate the effectiveness of RF ablation in the treatment of xanthelasma palpebrarum, with D...
March 1, 2018: Journal of Cosmetic Dermatology
https://www.readbyqxmd.com/read/29491659/multiple-asymptomatic-juxta-articular-nodules-mimicking-tuberous-xanthoma-a-unusual-presentation-of-tophaceous-gout
#12
Sidharth Tandon, Kabir Sardana, Purnima Malhotra, Jasmeet Singh
Asymptomatic, juxta-articular nodules are an uncommon morphology, which is usually diagnosed as xanthomas, calcinosis cutis or rheumatoid nodules. This study was represented as a case of gout, which is a disorder of purine metabolism resulting in elevation of serum uric acid and deposition of monosodium urate crystals within and around joints and manifests clinically as inflammatory arthritis. Urate crystal deposits have also been found in tendons, ligaments, viscera, and the skin, with the term "tophi" being used for the non-articular deposits...
October 2017: Journal of Cutaneous and Aesthetic Surgery
https://www.readbyqxmd.com/read/29484006/diffuse-normolipemic-plane-xanthoma-dnpx-of-the-neck-without-xanthelasma-palpebrum
#13
Uwe Wollina, Jacqueline Schönlebe, Georgi Tchernev, Torello Lotti
Diffuse normolipemic plane xanthoma (DNPX) is an uncommon subtype of non-Langerhans histiocytosis. DNPX is characterised by xanthelasma palpebrarum, diffuse plane xanthoma of the head, neck, trunk, or extremities, and normal plasma lipid levels. The neck is the most common site. We report about a 62-year-old female Caucasian patient, who developed an asymptomatic fine wrinkling and loose skin on the neck and décolleté about three years ago. The skin colour became yellowish. Xanthelasma was absent. Histopathology of a skin biopsy confirmed the diagnosis of DNPX...
January 25, 2018: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29447824/central-xanthoma-of-the-mandible-associated-with-hyperlipidemia-a-rare-presentation
#14
John K Brooks, Behzad Mostoufi, Ahmed S Sultan, Zaid H Khoury, Jeffery B Price, John C Papadimitriou, John R Basile, Cinthia B Drachenberg, Rania H Younis
Xanthoma is a common, self-limiting cutaneous lesion of non-Langerhans cell, lipid-laden foamy histiocytes that is often concomitant with hyperlipidemia. The intraosseous counterpart is rarely encountered and typically presents as a painless, expansile osteolytic process in the context of hyperlipidemia or normolipidemia. Only a scant number of gnathic xanthomas have been reported in the otolaryngologic literature. We report the clinical, laboratory, radiographic, histopathologic, immunohistochemical, and ultrastructural studies of a mandibular lesion discovered in an asymptomatic 16-year-old male, and associated with 2 previously unreported comorbidities, namely hyperlipidemia and vitamin D deficiency...
February 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29434128/a-case-of-late-onset-cerebrotendinous-xanthomatosis-with-a-novel-mutation-in-the-cyp27a1-gene
#15
Akari Sasamura, Satoru Akazawa, Ai Haraguchi, Ichiro Horie, Takao Ando, Norio Abiru, Hajime Takei, Hiroshi Nittono, Mizuho Une, Takao Kurosawa, Tsuyoshi Murai, Hiromu Naruse, Tomohiro Nakayama, Kazuhiko Kotani, Alan T Remaley, Atsushi Kawakami
Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, inborn disruption in bile acid synthesis characterized by severe systemic xanthomas, cataracts and neurological injuries occurring before adolescence without elevation of the serum cholesterol or triglyceride levels. CTX is caused by a deficiency of the mitochondrial enzyme sterol 27-hydroxylase, which is encoded by the CYP27A1 gene. We herein report a 50-year-old Japanese woman with late-onset CTX who had no relevant symptoms before the development of bilateral Achilles tendon xanthomas in middle age...
February 9, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29415907/guidance-for-pediatric-familial-hypercholesterolemia-2017
#16
Mariko Harada-Shiba, Takao Ohta, Akira Ohtake, Masatsune Ogura, Kazushige Dobashi, Atsushi Nohara, Shizuya Yamashita, Koutaro Yokote
This paper describes consensus statement by Joint Working Group by Japan Pediatric Society and Japan Atherosclerosis Society for Making Guidance of Pediatric Familial Hypercholesterolemia (FH) in order to improve prognosis of FH.FH is a common genetic disease caused by mutations in genes related to low density lipoprotein (LDL) receptor pathway. Because patients with FH have high LDL cholesterol (LDL-C) levels from the birth, atherosclerosis begins and develops during childhood which determines the prognosis...
February 6, 2018: Journal of Atherosclerosis and Thrombosis
https://www.readbyqxmd.com/read/29390551/xanthomatosis-in-bilateral-hands-mimicking-rheumatoid-arthritis-a-case-report
#17
Dan Li, Longfei You, Songqing Fan, Lihua Tan
RATIONALE: Xanthomatosis often accompanies familial hypercholesterolemia. This disease usually occurs in tendons, most commonly located in the Achilles tendon; occasionally it can also be seen in other systems. Although there are previous reports for bilateral hand extensor tendon involvement, to our knowledge there is no report in English literature regarding bilateral hands with small joint synovium presenting as rheumatoid arthritis. Therefore, the case that is presented in this report is unique...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29388205/isolated-daily-headache-associated-with-falcine-xanthoma
#18
Yanan Zhang, Ying Zhang, Li He
No abstract text is available yet for this article.
April 2018: Headache
https://www.readbyqxmd.com/read/29383319/xanthoma-disseminatum-presenting-with-hoarseness
#19
Biswanath Behera, Munisamy Malathi, Devinder-Mohan Thappa, Hemanth Vamanshankar, Pradipta-Kumar Parida, Debasis Gochhait
Introduction: Xanthoma disseminatum (XD) is a rare, benign, non-Langerhans cell histiocytic disorder with unknown etio-pathology. It manifests with multiple, grouped, red-brown to yellow papules and nodules involving the skin, mucous membranes, and internal organs with a predilection for flexures and the face. Case Report: We report a patient who presented with disseminated xanthomatous papules and nodules involving the face, neck, trunk, axilla, groin, and oral cavity, along with hoarseness of voice...
November 2017: Iranian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/29346676/familial-hypercholesterolemia-xanthelasma-corneal-arcus-and-tendon-xanthomas-only-in-severe-forms
#20
Lluís Masana
No abstract text is available yet for this article.
January 15, 2018: QJM: Monthly Journal of the Association of Physicians
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