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Tumorous calcinosis

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https://www.readbyqxmd.com/read/28018840/hand-impairment-in-systemic-sclerosis-various-manifestations-and-currently-available-treatment
#1
Amber Young, Rajaie Namas, Carole Dodge, Dinesh Khanna
Systemic sclerosis (SSc) is an autoimmune disease initially recognized by hand involvement due to characteristic Raynaud's phenomenon (RP), puffy hands, skin thickening, and contractures resembling claw deformities. SSc contributes to hand impairment through inflammatory arthritis, joint contractures, tendon friction rubs (TFRs), RP, digital ulcers (DU), puffy hands, skin sclerosis, acro-osteolysis, and calcinosis. These manifestations, which often co-exist, can contribute to difficulty with occupational activities and activities of daily living (ADL), which can result in impaired quality of life...
September 2016: Current Treatment Options in Rheumatology
https://www.readbyqxmd.com/read/28012693/tumoral-calcinosis-of-the-cervical-spine-in-a-dialysis-patient-case-report-and-review-of-the-literature
#2
Krzysztof Zapałowicz, Bartłomiej Stasiów, Monika Ciupińska-Kajor, Wojciech Piwowarski
The authors present a case of tumoral calcinosis (TC) in a patient with chronic renal insufficiency. The clinical course, imaging features and microscopic findings are detailed. A 60-year-old woman with a 4-year history of hemodialysis presented with a painful mass in the right posterior cervical triangle. The neuroimaging revealed polycystic mass bulging from the C3-C5 facet joints and lamina on the right. The majority of cystic mass was excised and microscopic features of the specimen were consistent with TC...
December 14, 2016: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28005411/a-mutation-in-the-dmp1-gene-alters-phosphate-responsiveness-in-mice
#3
Shoji Ichikawa, Rita Gerard-O'Riley, Dena Acton, Amie K McQueen, Isabel E Strobel, Phillip C Witcher, Jian Q Feng, Michael J Econs
Mutations in the dentin matrix protein 1 (DMP1) gene cause autosomal recessive hypophosphatemic rickets (ARHR). Hypophosphatemia in ARHR results from increased circulating levels of a phosphaturic hormone, fibroblast growth factor 23 (FGF23). Similarly, elevated FGF23, caused by mutations in the PHEX gene, is responsible for the hypophosphatemia in X-linked hypophosphatemic rickets (XLH). Previously, we demonstrated that a Phex mutation in mice creates a lower set point for extracellular phosphate, where an increment in phosphorus further stimulates Fgf23 production to maintain low serum phosphorus levels...
December 22, 2016: Endocrinology
https://www.readbyqxmd.com/read/27955821/intravenous-sodium-thiosulfate-for-treating-tumoral-calcinosis-associated-with-systemic-disorders-report-of-four-cases
#4
Arthur Mageau, Vincent Guigonis, Voa Ratzimbasafy, Thomas Bardin, Pascal Richette, Pablo Urena, Hang-Korng Ea
Intravenous sodium thiosulfate (ivSTS) is a promising new therapeutic option for calciphylaxis related to end-stage renal disease. However, its effect on tumoral calcinosis (TC) complicating autoimmune connective-tissue diseases has been scarcely described. We report here 4 cases (3 adults and 1 child) of TC treated with ivSTS. TC was secondary to CREST syndrome, dermatomyositis (1 adult and 1 child) and systemic erythematous lupus and involved multiple sites in all cases. In all 4 patients, TC was responsible for joint pain, reduced mobility, inflammatory flares and skin fistulations...
December 7, 2016: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/27867679/identification-of-two-novel-mutations-in-the-galnt3-gene-in-a-chinese-family-with-hyperphosphatemic-familial-tumoral-calcinosis
#5
Lihao Sun, Lin Zhao, Lianjun Du, Peipei Zhang, Minjia Zhang, Min Li, Tingting Liu, Lei Ye, Bei Tao, Hongyan Zhao, Jianmin Liu, Xiaoyi Ding
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare, autosomal recessive genetic disease. This disease is characterized by the progressive calcification of soft tissues leading to symptoms of pressure and hyperphosphatemia but normal concentrations of serum calcium with or without an elevation of 1,25-dihydroxyvitamin D3 levels.HFTC is caused by loss-of-function mutations in the GALNT3, FGF23 or KL genes. Here, we identified two novel mutations in the GALNT3 gene in a Chinese family with HFTC. Identification of a novel genotype in HFTC provides clues for understanding the phenotype-genotype relationships in HFTC and may assist not only in the clinical diagnosis of HFTC but also in the interpretation of the genetic information used for prenatal diagnosis and genetic counseling...
2016: Bone Research
https://www.readbyqxmd.com/read/27833984/a-case-of-a-generalized-symptomatic-calcinosis-in-systemic-sclerosis
#6
Cristian Radu Jecan, Ştefan Iulian Bedereag, Ruxandra Diana Sinescu, Valentin Titus Grigorean, Cristina Nicoleta Cozma, Anca Bordianu, Ioan Petre Florescu
Calcinosis consists of abnormal calcium deposition in soft tissues, which appears often in patients with limited systemic sclerosis, being one of the criteria of CREST (calcinosis cutis, Raynaud phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia) syndrome. With a long evolution, the aim of the treatment is to control the symptoms and prevent complications. In this article, we present the challenging management of a profuse lesion of calcinosis in a patient with systemic sclerosis. We describe the case of a 52-year-old woman with systemic sclerosis and CREST syndrome who was admitted in our Department with multiple painful and disabling tumoral masses, situated in nearly all joints...
2016: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/27756992/iatrogenic-calcinosis-cutis-a-rare-cytological-diagnosis
#7
Gopal Krishna Sawke, Tina Rai, Nilima Sawke
Calcinosis cutis is an uncommon condition characterized by the deposition of calcium salts in the subcutaneous tissues of the body. Calcifications can also occur in a variety of other clinical settings and can be subjected to fine-needle aspiration (FNA). Since cutaneous calcific deposits may clinically mimic a tumor, it is feasible to diagnose them by FNA cytology (FNAC). We reported a case of calcinosis cutis by FNA in a 36-year-old male who presented with a solitary subcutaneous nodule in cubital fossa. Smears showed amorphous granular material consistent with calcium and occasional histiocytes...
July 2016: Journal of Cytology
https://www.readbyqxmd.com/read/27728984/intradural-tumoral-calcinosis-of-the-foramen-magnum-region-a-case-report
#8
Hao Wang, Yuanli Zhao, Jun Yang
Tumoral calcinosis is a rare disorder characterized by tumor-like calcified masses commonly occurring in the periarticular regions of the extremities. Conversely, intradural tumoral calcinosis of the spine is extremely rare, with only two previously reported cases. To our knowledge, this is the first intradural case located in the foramen magnum region.
October 11, 2016: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/27683096/sudden-onset-of-parathyroid-hormone-independent-severe-hypercalcemia-from-reversal-of-tumoral-calcinosis-in-a-dialysis-patient
#9
Fareed B Kamar, Bikaramjit Mann, Gregory Kline
BACKGROUND: Tumoral calcinosis is a rare manifestation of extraskeletal calcification, featuring large calcified cystic masses in the periarticular regions of large joints. In chronic kidney disease (CKD), this disorder is thought to evolve through a chronically elevated calcium-phosphorus solubility product leading to calcium precipitation in soft tissue. Treating tumoral calcinosis in these patients involves interventions to lower the calcium-phosphorus product such as reduction in vitamin D therapy and intensive hemodialysis regimens...
September 29, 2016: BMC Nephrology
https://www.readbyqxmd.com/read/27663758/nontraumatic-tumoral-calcinosis
#10
Leyla Karaca, Gökhan Polat, Recep Sade, Ihsan Yüce, Hayri Ogul, Mecit Kantarci
No abstract text is available yet for this article.
September 20, 2016: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/27651742/laxative-related-primary-hyperphosphatemic-tumoral-calcinosis-identified-by-bone-scintigraphy
#11
Marcus Asokendaran, Nat Patrick Lenzo
We describe a case of a 40-year-old female patient presenting with tumor calcinosis where hypertrophic pulmonary osteoarthropathy (HPOA) was suspected given her extensive history of malignancy. Plain X-rays did not show reveal the typical periarticular calcification but did show appearances consistent with HPOA. Bone scintigraphy with (99m)Tc-methylene diphosphonate (MDP) is a sensitive investigation in the detection of hypertrophic osteoarthopathy but did not show findings characteristics of HPOA like bilateral symmetrical increased uptake of the radiopharmaceutical along the cortical margins of the long bones...
September 2016: World Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/27611507/idiopathic-tumoral-calcinosis-like-lesion-in-the-lower-cervical-spine-causing-acute-central-cord-syndrome-case-report
#12
Ahmad Al-Sukaini, Nuno Rui Paulino Pereira, Elaine W Yu, Ivan Chebib, Miriam A Bredella, Joseph Schwab
A 57-year-old male presented with recurrent falls, bilateral lower-limb paresthesia, and severe neck pain. Imaging revealed a mass compressing his spinal cord. He was admitted for further workup for spinal cord compression. Within 24 hours of admission, he developed upper-extremity weakness while maintaining lower-extremity function. He underwent urgent decompression of his spinal cord. During exposure, a white, creamy odorless substance was noted. This same substance was found under pressure within the spinal canal...
January 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/27583094/-improvement-of-tumoral-calcinosis-of-the-right-hand-after-parathyroidectomy-in-a-patient-on-chronic-hemodialysis
#13
Jaouad El Maghraoui, Mohamed Hammou, Nadia Kabbali, Mohamed Arrayhani, Tariq Sqalli Houssaini
Periarticular tissue calcifications are common in patients with chronic renal failure undergoing hemodialysis. We report the case of a patient on chronic hemodialysis for 10 years with significant improvement of isolated pseudotumoral calcinosis of the right hand after parathyroidectomy The aim of this study was to show the impact of parathyroidectomy on pseudotumoral calcinosis.
2016: Pan African Medical Journal
https://www.readbyqxmd.com/read/27579225/tumoral-calcinosis-an-uncommon-cause-for-a-mass-in-a-reconstructed-breast
#14
Eugene Koh, Nicola R Dean, David I Watson, Christopher D Carter
Tumoral calcinosis is a rare clinical and histopathological syndrome whose exact etiology is unknown. We present a case of a 57-year-old woman who presents with a painful lump in her right chest after bilateral breast reconstructions for bilateral asynchronous breast cancers. It is important to be aware of all possible differential diagnoses in a patient presenting with a chest mass after mastectomy and reconstruction for breast cancer as not all lesions of this type represent recurrent cancer.
May 2016: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/27355663/development-and-validation-of-a-simple-diagnostic-method-to-detect-gain-and-loss-of-function-defects-in-fibroblast-growth-factor-23
#15
Ahmad R Ramadan, Said M Shawar, Manal A Alghamdi
BACKGROUND: Fibroblast growth factor-23 (FGF23) is a bone-derived hormone that regulates the homeostasis of phosphate and vitamin D. Three substitutions in the hormone are reported to cause autosomal dominant hypophosphatemic rickets and seven substitutions to cause autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). Both disorders are rare in the general population and occur most often in the Eastern Mediterranean region and Africa. None of the mutations could be identified using standard restriction fragment length polymorphism...
2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27303573/-tumoral-calcinosis-in-a-patient-on-hemodialysis
#16
Manel Jellouli, Tahar Gargah
No abstract text is available yet for this article.
2016: Pan African Medical Journal
https://www.readbyqxmd.com/read/27274638/tumoral-calcinosis-as-an-initial-complaint-of-juvenile-onset-amyopathic-dermatomyositis
#17
Eun Jin Doh, Jungyoon Moon, Sue Shin, Soo Hyun Seo, Hyun Sun Park, Hyun-Sun Yoon, Soyun Cho
Calcinosis is rarely observed in juvenile-onset amyopathic dermatomyositis in contrast to juvenile-onset dermatomyositis. A 6-year-old female presented with several 0.5 to 2 cm-sized painless grouped masses on both knees for 3 years. The patient also presented with multiple erythematous scaly patches and plaques on both elbows, knuckles, buttock, ankles and cheeks. Her mother had similar skin lesions which were erythematous scaly patches on the knuckles and elbows, since her childhood. When skin biopsy was performed from a left knee nodule, liquid chalky discharge was observed...
June 2016: Annals of Dermatology
https://www.readbyqxmd.com/read/27164190/phenotypic-and-genotypic-characterization-and-treatment-of-a-cohort-with-familial-tumoral-calcinosis-hyperostosis-hyperphosphatemia-syndrome
#18
Mary Scott Ramnitz, Pravitt Gourh, Raphaela Goldbach-Mansky, Felasfa Wodajo, Shoji Ichikawa, Michael J Econs, Kenneth E White, Alfredo Molinolo, Marcus Y Chen, Theo Heller, Jaydira Del Rivero, Patricia Seo-Mayer, Bita Arabshahi, Malaka B Jackson, Sarah Hatab, Edward McCarthy, Lori C Guthrie, Beth A Brillante, Rachel I Gafni, Michael T Collins
Familial tumoral calcinosis (FTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is a rare disorder caused by mutations in the genes encoding fibroblast growth factor-23 (FGF23), N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO. The result is functional deficiency of, or resistance to, intact FGF23 (iFGF23), causing hyperphosphatemia, increased renal tubular reabsorption of phosphorus (TRP), elevated or inappropriately normal 1,25-dihydroxyvitamin D3 (1,25D), ectopic calcifications, and/or diaphyseal hyperostosis...
October 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/27163355/topical-sodium-thiosulfate-a-treatment-for-calcifications-in-hyperphosphatemic-familial-tumoral-calcinosis
#19
Jérémy Jost, Claire Bahans, Marie Courbebaisse, Tu-Anh Tran, Agnès Linglart, Karelle Benistan, Anne Lienhardt, Hadile Mutar, Elodie Pfender, Voa Ratsimbazafy, Vincent Guigonis
CONTEXT: Hyperphosphatemic familial tumoral calcinosis (HFTC) and hyperphosphatemia hyperostosis syndrome (HHS) are rare diseases characterized by hyperphosphatemia and ectopic calcifications or recurrent episodes of diaphysitis. In the setting of metabolic or inflammatory diseases, recent data suggest that systemic administration of sodium thiosulfate (STS) could be effective in the treatment of ectopic calcifications but may also be poorly tolerated (digestive symptoms, metabolic acidosis)...
July 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27093323/1-25-dihydroxyvitamin-d-as-monotherapy-for-xlh-back-to-the-future
#20
Diana Ovejero, Rachel I Gafni, Michael T Collins
No abstract text is available yet for this article.
May 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
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