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Tumorous calcinosis

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https://www.readbyqxmd.com/read/27867679/identification-of-two-novel-mutations-in-the-galnt3-gene-in-a-chinese-family-with-hyperphosphatemic-familial-tumoral-calcinosis
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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...
September 9, 2016: 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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
https://www.readbyqxmd.com/read/27088846/a-23-year-old-patient-with-secondary-tumoral-calcinosis-regression-after-subtotal-parathyroidectomy-a-case-report
#17
Katharina E Niemann, Feride Kröpil, Martin F Hoffmann, Marlon O Coulibaly, Thomas A Schildhauer
INTRODUCTION: Tumoral calcinosis (TC) is a rare disorder defined by hyperphosphatemia and ectopic calcifications in various locations. The most common form of TC is associated with disorders such as renal insufficiency, hyperparathyroidism, or hypervitaminosis D. The primary (hereditary) TC is caused by inactivating mutations in either the fibroblast growth factor 23 (FGF23), the GalNAc transferase 3 (GALNT3) or the KLOTHO (KL) gene. PRESENTATION OF CASE: We report here a case of secondary TC in end-stage renal disease...
2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27048476/tumoral-pseudogout-of-the-proximal-interphalangeal-joint-of-a-finger-a-case-report-and-literature-review
#18
Hyo Jung Park, Hye Won Chung, Tack Sun Oh, Jong-Seok Lee, Joon Seon Song, Yong-Koo Park
Tumoral pseudogout is a rare clinical form of calcium pyrophosphate dihydrate crystal deposition disease. Tumoral pseudogout can mimic other diseases such as chondroid tumor, tophaceous gout, or tumoral calcinosis. Its radiological features have been presented in some case reports, but no specific radiographic features have been identified. Here, we report an unusual case of recurrent tumoral pseudogout involving the proximal interphalangeal joint of the right long finger. This case presents with progressive radiological findings of the disease with an enlarging and recurrent calcified mass and secondary bony erosion and remodeling, along with a radiological-pathological correlation...
July 2016: Skeletal Radiology
https://www.readbyqxmd.com/read/27007612/calcinosis-in-juvenile-dermatomyositis-frequency-risk-factors-and-outcome
#19
Isha Saini, Mani Kalaivani, Sushil Kumar Kabra
The aim was to retrospectively estimate the prevalence of calcinosis in patients with juvenile dermatomyositis (JDM) and to identify risk factors associated with development of calcinosis in these patients. Retrospective chart review of 39 children diagnosed with JDM between 2004 and 2015 in a tertiary care hospital was done. Patients were divided into two groups, depending on the presence or absence of calcinosis, and the two groups were compared with respect to demographic, clinical, laboratory and therapeutic characteristics...
July 2016: Rheumatology International
https://www.readbyqxmd.com/read/26943247/uremic-tumoral-calcinosis-in-the-cervical-spine-case-report
#20
Mostafa Fatehi, Christopher S Ahuja, Shelly Wang, Howard J Ginsberg
Tumoral calcinosis is an uncommon condition characterized by the calcification of periarticular soft tissue. In uremic patients the disease is secondary to metabolic disturbances in predisposed patients. The authors report the case of a 73-year-old woman who presented with a new painful cervical mass while undergoing continuous ambulatory peritoneal dialysis for long-standing end-stage renal disease (ESRD). A CT scan of the neck showed a lobulated, calcified mass in the left paraspinal soft tissue at C2-3. This mass affected the facet joint and also extended into the neural foramen but did not cause any neurological compromise...
July 2016: Journal of Neurosurgery. Spine
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