Results 11 to 20 of about 2,912,781 (218)

Pre-patellar Tumoral Calcinosis of Knee with Intra-articular Extension: An Index Case Study [PDF]

Journal of Orthopaedic Case Reports
Introduction: Tumoral calcinosis is a rare hereditary condition characterized by the deposition of calcium phosphate and hydroxyapatite in periarticular soft tissues.
Manoj Kumar, Reddy Lakshmana Sai, Tufan Mandal, Kumar Keshav, Hari Kishan, Theynesh Kumar P   +5 more
doaj   +3 more sources

The Successful Treatment of Deep Soft-tissue Calcifications with Topical Sodium Thiosulphate and Acetazolamide in a Boy with Hyperphosphatemic Familial Tumoral Calcinosis due to a Novel Mutation in FGF23

JCRPE, 2022
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disorder. Topical sodium thiosulfate (STS) and acetazolamide can be a safe and effective treatment for patients who do not respond to conventional therapy for ectopic ...
Hakan Döneray, Ayşe Özden, Kadri Gürbüz   +2 more
doaj   +3 more sources

A Sole Case of the FGF23 Gene Mutation c.202A>G (p.Thr68Ala) Associated with Multiple Severe Vascular Aneurysms and a Hyperphosphatemic Variant of Tumoral Calcinosis—A Case Report [PDF]

Life
Tumoral calcinosis is an extremely rare genetic disease caused by mutations in three genes, GALNT3, FGF23, and KL, which disrupt phosphorus metabolism. The hallmark of this condition is the formation of tumors in the soft tissues around the joints. Other
Nevena Georgieva Ivanova
doaj   +3 more sources

Alterations in SAMD9, AHSG, FRG2C, and FGFR4 Genes in a Case of Late-Onset Massive Tumoral Calcinosis. [PDF]

AACE Clin Case Rep, 2023
Background/Objective: Tumoral calcinosis (TC) is a rare, arcane, and debilitating disorder of phosphate metabolism manifesting as hard masses in soft tissues.
Leow MKS, Ang J, Bi X, Koh ET, McFarlane C.   +4 more
europepmc   +4 more sources

Idiopathic Tumoral Calcinosis [PDF]

Journal of the Belgian Society of Radiology, 2021
Teaching Point: The imaging clues to differentiate idiopathic tumoral calcinosis from other calcified soft tissue lesions include: pseudotumoral appearance with mass effect, bone erosion with intra-osseous protrusion of calcification, lobulated ...
Jesper Dierickx, Filip Vanhoenacker
doaj   +6 more sources

Hyperphosphatemic Tumoral Calcinosis: Pathogenesis, Clinical Presentation, and Challenges in Management

Frontiers in Endocrinology, 2020
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare and disabling disorder of fibroblast growth factor 23 (FGF23) deficiency or resistance.
Rachel I Gafni
exaly   +4 more sources

Treatment of Severe Tumoral Calcinosis with Teriparatide in a Dialysis Patient after Total Parathyroidectomy [PDF]

Case Reports in Nephrology, 2021
Tumoral calcinosis is a rare but debilitating condition that can affect dialysis patients. Optimal management is largely unknown. We report the clinical course, treatment, and outcome of a peritoneal dialysis (PD) patient who developed tumoral calcinosis
Ho-Kwan Sin, Ping-Nam Wong, Kin-Yee Lo, Man-Wai Lo, Shuk-Fan Chan, Kwok-Chi Lo, Yuk-Yi Wong, Lo-Yi Ho, Wing-Tung Kwok, Kai-Chun Chan, Andrew Kui-Man Wong, Siu-Ka Mak   +11 more
doaj   +2 more sources

Calcinosis cutis of the lower legs - hyperphosphatemic familial tumoral calcinosis in a patient with GALNT3 mutation. [PDF]

J Dtsch Dermatol Ges
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 9, Page 1144-1146, September 2025.
Ranzinger D, Schaefer T, Schauer F, Eyerich K, Pilz AC.   +4 more
europepmc   +4 more sources

Tumoral calcinosis of unusual location in a chronic hemodialysis patient. [PDF]

BJR Case Rep, 2023
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, Taoussi R, Ndayishimiye V, Sabiri M, Labied M, Lembarki G, El Manjra S, Lezar S, Essodegui F.   +8 more
europepmc   +2 more sources

A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant. [PDF]

Clin Pediatr Endocrinol, 2023
. 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, Ohata Y, Sawai H, Izawa M, Takeyari S, Kubota T, Omae Y, Ozono K, Tokunaga K, Hamajima T.   +9 more
europepmc   +2 more sources