Bone Involvement in Hyperphosphatemic Familial Tumoral Calcinosis: A New Phenotypic Presentation. [PDF]
Mutations in FGF23, KL, and GALNT3 have been identified as the cause for the development of hyperphosphatemic familial tumoral calcinosis (HFTC). Patients with HFTC typically present in childhood or adolescence with periarticular soft tissue deposits ...
Freedman JD+4 more
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A rare case of idiopathic tumoral calcinosis: Case report [PDF]
Idiopathic tumoral calcinosis is a very uncommon benign disease, defined by the presence of calcified deposits in periarticular tissues. The pathogenesis is yet not well understood.
Khadija Laasri, MD+4 more
doaj +3 more sources
Carpal tunnel syndrome secondary to tumoral calcinosis: a case report and review of the literature [PDF]
Background Carpal Tunnel Syndrome (CTS) is the most prevalent peripheral nerve entrapment disease. Its pathophysiology is multifactorial and defined as idiopathic in most cases.
Michael Abdallah+5 more
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Familial Hyperphosphatemic Tumoral Calcinosis [PDF]
Mohammad Saifuddin, MD+4 more
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Avid 18F-FDG Uptake in Idiopathic Tumoral Calcinosis Mimicking Lymph Node Metastasis [PDF]
Tumoral calcinosis is a benign condition characterized by periarticular calcified lesions that is frequently observed in patients with chronic renal failure. Tumoral calcinosis often presents with subcutaneous masses and joint swelling. We present a case
Jesper Strandberg, Helle D. Zacho
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Tumoral calcinosis of unusual location in a chronic hemodialysis patient. [PDF]
Tumoral calcinosis is a rare cause of intratissular calcifications in hemodialysis patients with chronic renal failure. Its frequency is estimated between 0.5 and 7% of patients. We illustrate through a case of unusual localization diagnosed in Ibn Rochd
Sakhy Y+8 more
europepmc +2 more sources
A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant. [PDF]
. Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare, inherited autosomal recessive disorder caused by fibroblast growth factor-23 (FGF23), N-acetylgalactosaminyltransferase 3 (GALNT3), or Klotho (KL) gene variants.
Nishimura-Kinoshita N+9 more
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Different outcomes following parathyroidectomy in patients with uremic tumoral calcinosis: two case reports. [PDF]
Background Uremic tumoral calcinosis (UTC) is a rare complication in hemodialysis patients, whose mechanism remains incompletely understood.
Li J, Li X, Dong X, Ma L, Guo Z, Chen X.
europepmc +2 more sources
A rare disease: Familial hyperphosphatemic tumoral calcinosis [PDF]
Introduction Tumoral calcinosis (TC) is a rare disease characterized by soft tissue calcification as a result of repetitive trauma and prolonged pressure in periarticular areas of large joints; such as hip, knee, shoulder and elbow.
Seçkin Akçay+2 more
europepmc +2 more sources
7984 A Challenging Case Of Hyperphosphatemic Familial Tumoral Calcinosis [PDF]
Disclosure: T.G. de Souza: None. T.J. Weber: None. Introduction: Hyperphosphatemic Familial Tumoral Calcinosis (hFTC) is a rare, autosomal recessive metabolic disorder characterized by elevated serum phosphate levels and the accumulation of calcium ...
T. G. de Souza, Thomas Joseph Weber
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