Results 81 to 90 of about 2,952,556 (266)

Differential response of idiopathic sporadic tumoral calcinosis to bisphosphonates

Indian Journal of Endocrinology and Metabolism, 2014
Context: Tumoral calcinosis is a disorder of phosphate metabolism characterized by ectopic calcification around major joints. Surgery is the current treatment of choice, but a suboptimal choice in recurrent and multicentric lesions. Aims: To evaluate the
Karthik Balachandran, Sadishkumar Kamalanathan, Jaya Prakash Sahoo, Ashok Kumar Das, Dhanapathi Halanaik   +4 more
doaj   +1 more source

Tumoral calcinosis

Journal of British Surgery, 1972
Abstract An extreme case of tumoral calcinosis is presented. This condition is common in the highland natives of New Guinea and is commonly referred to as “hip stones”. The pathogenesis, clinical findings, and treatment are discussed and the relevant literature is reviewed.
openaire   +2 more sources

Novel genetic mutation associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome treated with denosumab: a case report.

Reumatismo
In this case report, a novel N-acetylgalactosaminyltransferase 3 homozygous mutation (c.782 G>A; p.R261Q) associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome is described.
G. Fabbriciani, A. Colombini, C. Messina, G. Adami   +3 more
semanticscholar   +1 more source

Cardiac disease in systemic sclerosis: Integrating pathobiology with clinical management

Rheumatology &Autoimmunity, EarlyView.
Abstract Systemic sclerosis (SSc) is a complex autoimmune disorder in which cardiovascular involvement remains a major determinant of morbidity and mortality. Cardiac injury in SSc results from the interplay of microvascular dysfunction, immune‐mediated inflammation, and progressive interstitial and replacement fibrosis, leading to myocardial disease ...
Henry Sutanto, Betty Rachma, Yuliasih
wiley   +1 more source

The idiopathic localized tumoral calcinosis: the “chicken wire” radiographic pattern

Radiology Case Reports, 2017
Tumoral calcinosis is a rare and benign hereditary tumor-like periarticular calcium deposit. It is painless and it is found commonly around large joints such as hip, shoulder and elbow.
Marco Di Serafino, MD, Matilde Gioioso, MD, Rosa Severino, MD, Francesco Lisanti, MD, Rosario Rocca, MD, Paolo Sorbo, MD, Domenico Maroscia, MD   +6 more
doaj   +1 more source

A Cross‐Sectional Cohort Study of the Effects of FGF23 Deficiency and Hyperphosphatemia on Dental Structures in Hyperphosphatemic Familial Tumoral Calcinosis

JBMR Plus, 2021
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disorder caused by mutations in FGF23, GALNT3, KLOTHO, or FGF23 autoantibodies.
Alisa E Lee, E. Chu, Pamela J. Gardner, O. Duverger, Amanda Saikali, Sean K Wang, R. Gafni, Iris R. Hartley, K. T. Ten Hagen, M. Somerman, M. Collins   +10 more
semanticscholar   +1 more source

Clinical, Pathological, and Imaging Study of Pilomatrixoma: A Retrospective Study

Health Science Reports, Volume 9, Issue 2, February 2026.
ABSTRACT Background and Aims A retrospective analysis was conducted on the clinical, pathological, and imaging features of 471 cases of pilomatrixoma, aiming to enhance clinicians' understanding of pilomatrixoma. Methods A total of 471 cases of pilomatrixoma diagnosed and surgically treated in the Affiliated Hospital of Southwest Medical University ...
Qi Hao, Cong‐Gai Huang, Chao‐Ying Wu, Rong Kuang, Meng‐Ze Li   +4 more
wiley   +1 more source

A novel homozygous variant in exon 10 of the GALNT3 gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India.

Intractable & Rare Diseases Research, 2021
Hyperphosphatemic familial tumoral calcinosis (HFTC) is an extremely rare autosomal recessive disorder caused by variants in the GALNT3 (N-acetylgalactosaminyltransferase 3), FGF23 (Fibroblast Growth Factor-23) and αKL (α-Klotho) genes, which results in ...
D. Dayal, Shruti Gupta, Rakesh Kumar, R. Srinivasan, B. Lorenz-Depiereux, T. Strom   +5 more
semanticscholar   +1 more source

Lysophosphatidic Acid Synergizes With 1,25‐Dihydroxyvitamin D to Promote Fibroblast Growth Factor‐23 Synthesis via MAPK Signaling and Induction of the IL12A Gene

The FASEB Journal, Volume 40, Issue 1, 15 January 2026.
Ay et al. investigated the cellular mechanisms behind the role of lysophosphatidic acid (LPA) in FGF23 production. They revealed that LPA cooperates with 1,25‐dihydroxyvitamin D (1,25D), that is, the bioactive form of vitamin D known to stimulate FGF23 synthesis. This synergy entails MAPK signaling and the induction of the gene encoding the interleukin‐
Birol Ay, Sajin Marcus Cyr, Yorihiro Iwasaki, Elizabeth Hill, Eugene P. Rhee, Nevil J. Singh, Petra Simic, Murat Bastepe   +7 more
wiley   +1 more source

Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis

The Turkish Journal of Pediatrics, 2019
Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive disorder that is characterized by persistent hyperphosphatemia and extra-articular calcifications.
Jumana Albaramki, Haitham Dmour, Mohammad Shboul, Carine Bonnard, Byrappa Venkatesh, Rasha Odeh   +5 more
doaj   +1 more source