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74:. Clinically also known as hyperphosphatemic familial tumoral calcinosis (HFTC), is often caused by genetic mutations in genes that regulate phosphate physiology in the body (leading to too much phosphate (hyperphosphatemia)). Best described genes that harbour mutations in humans are
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levels and resection of lesions. Surgical removal should be complete and if part of it is left, recurrence is likely to occur. Cutting through the excised calcium deposition reveals semifluid calcium suspension in albumin encapsulated by fibrous tissue.
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exudate. Children and adolescents (6 to 25 years) are the most commonly affected. The symptom that the accumulations cause is not pain but swelling around joints. They have propensity to enlarge progressively and ulcerate the overlying
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Hand radiograph showing tumoral calcinosis, PA radiograph of the right hand showing tumoral calcinosis-like metastatic calcification in a patient on dialysis. Dialysis alters calcium phosphate product (>70).
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Araya, Kaori; Fukumoto, Seiji; Backenroth, Rebecca; Takeuchi, Yasuhiro; Nakayama, Kounosuke; Ito, Nobuaki; Yoshii, Nozomi; Yamazaki, Yuji; Yamashita, Takeyoshi; Silver, Justin; Igarashi, Takashi (2005-10-01).
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Topaz, Orit; Shurman, Daniel L; Bergman, Reuven; Indelman, Margarita; Ratajczak, Paulina; Mizrachi, Mordechai; Khamaysi, Ziad; Behar, Doron; Petronius, Dan; Friedman, Vered; Zelikovic, Israel (June 2004).
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Stevenson, Nicola L.; Bergen, Dylan J. M.; Skinner, Roderick E. H.; Kague, Erika; Martin-Silverstone, Elizabeth; Robson Brown, Kate A.; Hammond, Chrissy L.; Stephens, David J. (2017-12-15).
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Ichikawa, Shoji; Imel, Erik A.; Kreiter, Mary L.; Yu, Xijie; Mackenzie, Donald S.; Sorenson, Andrea H.; Goetz, Regina; Mohammadi, Moosa; White, Kenneth E.; Econs, Michael J. (2007-09-04).
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animal model with reduced GALNT3 expression also showed HFTC-like phenotype, indicating an evolutionary conserved mechanism that is involved in developing tumoral calcinosis.
49:. Note the premature arterial calcification which is a clue that this is a renal patient. Vascular calcification contributes to an increase in morbidity.
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Oblique radiograph of the right hand demonstrating soft tissue calcification, characteristic of dialysis related metastatic calcification.
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317:"Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis"
366:"Giantin-knockout models reveal a feedback loop between Golgi function and glycosyltransferase expression"
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active at sites of bone formation) may be elevated. Treatment is normalization of serum
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210:"A Novel Mutation in Fibroblast Growth Factor 23 Gene as a Cause of Tumoral Calcinosis"
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102:(calcium deposition) which resembles tumor (like a new growth). They are not true
259:"A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis"
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deposition in the soft tissue in periarticular location, around
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131:. Laboratory evaluation reveal normal serum calcium levels and
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70:. They are frequently (0.5–3%) seen in patients undergoing
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The
Journal of Clinical Endocrinology & Metabolism
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110:. They are just deposition of inorganic calcium with
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119:and extrude. They are most common around
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58:is a rare condition in which there is
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263:Journal of Clinical Investigation
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370:Journal of Cell Science
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41:tumoral calcinosis is
440:Soft tissue disorders
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227:10.1210/jc.2005-0301
137:alkaline phosphatase
98:The name indicates
382:10.1242/jcs.212308
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56:Tumoral calcinosis
43:autosomal dominant
22:Tumoral calcinosis
376:(24): 4132–4143.
220:(10): 5523–5527.
152:Additional images
133:hyperphosphatemia
94:Clinical features
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16:Medical condition
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190:. Retrieved
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434:Categories
192:27 October
173:References
100:calcinosis
39:Idiopathic
390:0021-9533
343:1061-4036
283:0021-9738
236:0021-972X
145:phosphate
121:shoulders
104:neoplasms
88:zebrafish
82:(KL), or
408:29093022
351:15133511
301:17710231
244:16030159
47:dialysis
399:5769581
292:1940239
60:calcium
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141:enzyme
129:elbows
84:GALNT3
80:Klotho
76:FGF-23
64:joints
139:– an
112:serum
108:cells
404:PMID
386:ISSN
347:PMID
339:ISSN
297:PMID
279:ISSN
240:PMID
232:ISSN
194:2014
127:and
125:hips
117:skin
86:. A
394:PMC
378:doi
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329:doi
287:PMC
271:doi
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