Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Tumoral calcinosis, diaphysitis, and hyperphosphatemia.

Literature DB >> 6718723

Tumoral calcinosis, diaphysitis, and hyperphosphatemia.

Abstract

Three children with hyperphosphatemic tumoral calcinosis, including 2 siblings, presented with recurrent pain and swelling of the legs. Laboratory tests, radiographs, and biopsy showed reactive new bone formation of unknown etiology in the diaphyses. The authors hypothesize a relationship between tumoral calcinosis, hyperostosis, and hyperphosphatemia and consider possible mechanisms.

Entities: Disease Species

Mesh：

Substances：
Phosphorus

Year: 1984 PMID： 6718723 DOI： 10.1148/radiology.151.3.6718723

Source DB: PubMed Journal: Radiology ISSN： 0033-8419 Impact factor: 11.105

Keyword Cloud
Cited

13 in total

1. [Teutschländer disease. A rare benign differential diagnosis of proliferative space-occupying lesions in the periarticular soft tissue].

Authors: T Mumme; H Griefingholt; B Schmidt-Rohlfing; R Müller-Rath; A Kochs
Journal: Orthopade Date: 2004-07 Impact factor: 1.087

2. An ocular presentation of familial tumoral calcinosis.

Authors: Emer McGrath; Fiona Harney; Frank Kinsella
Journal: BMJ Case Rep Date: 2010-09-20

3. Dietary phosphate restriction normalizes biochemical and skeletal abnormalities in a murine model of tumoral calcinosis.

Authors: Shoji Ichikawa; Anthony M Austin; Amie K Gray; Matthew R Allen; Michael J Econs
Journal: Endocrinology Date: 2011-10-18 Impact factor: 4.736

4. Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.

Authors: Yaacov Frishberg; Orit Topaz; Reuven Bergman; Doron Behar; Drora Fisher; Derek Gordon; Gabriele Richard; Eli Sprecher
Journal: J Mol Med (Berl) Date: 2004-12-15 Impact factor: 4.599

5. Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.

Authors: Shoji Ichikawa; Geneviève Baujat; Aksel Seyahi; Anastasia G Garoufali; Erik A Imel; Leah R Padgett; Anthony M Austin; Andrea H Sorenson; Zagorka Pejin; Vicken Topouchian; Pierre Quartier; Valerie Cormier-Daire; Michele Dechaux; Fotini Ch Malandrinou; Panagiotis N Singhellakis; Martine Le Merrer; Michael J Econs
Journal: Am J Med Genet A Date: 2010-04 Impact factor: 2.802

Tumoral calcinosis, diaphysitis, and hyperphosphatemia.

1. [Teutschländer disease. A rare benign differential diagnosis of proliferative space-occupying lesions in the periarticular soft tissue].

2. An ocular presentation of familial tumoral calcinosis.

3. Dietary phosphate restriction normalizes biochemical and skeletal abnormalities in a murine model of tumoral calcinosis.

4. Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.

5. Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.

6. Hyperphosphatemic tumoral calcinosis in a young dog with renal failure.

7. A rare disorder: tumoral calcinosis and cirrhosis.

Review 8. Musculoskeletal ultrasonography of the lower extremities in infants and children.

9. Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification.

10. Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome.