Literature DB >> 21854601

Familial tumoral calcinosis in two Chinese patients: a case series.

Che Zhang1, Jiaowei Gu, Xiaoli Cheng, Kui Xiong.   

Abstract

INTRODUCTION: Tumoral calcinosis is a rare and benign condition characterized by massive subcutaneous soft tissue deposits of calcium phosphate predominantly around large joints. CASE
PRESENTATION: Familial tumoral calcinosis was present in two members of a Han Chinese family, namely, the son and daughter. The 14-year-old son had the first operation on his right sole of the foot at the age of six, and then experienced subsequent surgeries at a lesion in his right sole of the foot and left hip, respectively. The 16-year-old daughter underwent her first operation at the age of six in her left gluteal region, and subsequent surgeries were performed due to recurrence at the same lesion. Pathologic diagnoses of surgical specimens in both of the patients were reported as tumoral calcinosis. The laboratory results showed hyperphosphatemia with normal levels of serum calcium and alkaline phosphatase. Only surgical treatment was performed in both patients with satisfactory prognosis.
CONCLUSION: This is the first report of Chinese familial tumoral calcinosis. The etiopathogenisis and treatment are discussed.

Entities:  

Year:  2011        PMID: 21854601      PMCID: PMC3174129          DOI: 10.1186/1752-1947-5-394

Source DB:  PubMed          Journal:  J Med Case Rep        ISSN: 1752-1947


  8 in total

1.  Familial tumoral calcinosis.

Authors:  Jean Jose; Braden Fitcher; Paul D Clifford
Journal:  Am J Orthop (Belle Mead NJ)       Date:  2010-10

2.  A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.

Authors:  Orit Topaz; Margarita Indelman; Ilana Chefetz; Dan Geiger; Aryeh Metzker; Yoram Altschuler; Mordechai Choder; Dani Bercovich; Jouni Uitto; Reuven Bergman; Gabriele Richard; Eli Sprecher
Journal:  Am J Hum Genet       Date:  2006-08-24       Impact factor: 11.025

3.  An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

Authors:  Anna Benet-Pagès; Peter Orlik; Tim M Strom; Bettina Lorenz-Depiereux
Journal:  Hum Mol Genet       Date:  2004-12-08       Impact factor: 6.150

4.  Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3.

Authors:  Leo Joseph; Sandra N Hing; Nadege Presneau; Paul O'Donnell; Tim Diss; Bernadine D Idowu; Selvanayagam Joseph; Adrienne Margaret Flanagan; David Delaney
Journal:  Skeletal Radiol       Date:  2009-10-15       Impact factor: 2.199

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

Authors:  Eli Sprecher
Journal:  J Invest Dermatol       Date:  2009-10-29       Impact factor: 8.551

Review 6.  Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis.

Authors:  Ilana Chefetz; Eli Sprecher
Journal:  Biochim Biophys Acta       Date:  2008-10-25

7.  Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.

Authors:  Polina Specktor; John G Cooper; Margarita Indelman; Eli Sprecher
Journal:  J Hum Genet       Date:  2006-03-10       Impact factor: 3.172

8.  Familial tumoral calcinosis: a forty-year follow-up on one family.

Authors:  Kelly D Carmichael; James A Bynum; E Burke Evans
Journal:  J Bone Joint Surg Am       Date:  2009-03-01       Impact factor: 5.284

  8 in total
  1 in total

1.  A novel FGF23 mutation in hyperphosphatemic familial tumoral calcinosis and its deleterious effect on protein O-glycosylation.

Authors:  Qingyao Zuo; Weili Yang; Baoyue Liu; Dong Yan; Zhixin Wang; Hong Wang; Wei Deng; Xi Cao; Jinkui Yang
Journal:  Front Endocrinol (Lausanne)       Date:  2022-09-23       Impact factor: 6.055

  1 in total

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