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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
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
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
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
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
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
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
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
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
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)
Yanan Zhang, Ying Zhang, Li He
No abstract text is available yet for this article.
February 1, 2018: Headache
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
Lluís Masana
No abstract text is available yet for this article.
January 15, 2018: QJM: Monthly Journal of the Association of Physicians
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
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
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
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
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
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
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
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