Literature DB >> 7729126

Hyperphosphataemic tumoral calcinosis in Bedouin Arabs--clinical and radiological features.

F E McGuinness1.   

Abstract

In the first report of Bedouin Arabs with tumoral calcinosis, three Saudi Arabian male siblings and their female first cousin with the condition are described. In tumoral calcinosis the majority of cases are familial. These patients had associated hyperphosphataemia with normal renal function. The characteristic appearance of periarticular soft tissue calcified masses was present. Two of the cases developed calcific myelitis of long bones--a recognized complication of the disease. Two have widespread arterial calcification, which has not previously been described. Two cases have other unusual features; one has a calcified mass which has destroyed the blade of the scapula, whilst another developed a large tumoral mass on the posterior aspect of the knee.

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Year:  1995        PMID: 7729126     DOI: 10.1016/s0009-9260(05)83482-8

Source DB:  PubMed          Journal:  Clin Radiol        ISSN: 0009-9260            Impact factor:   2.350


  2 in total

1.  A report of familial hyperphosphataemia in an Irish family.

Authors:  S W Li Voon Chong; S Ah Kion; M J Cullen
Journal:  Ir J Med Sci       Date:  1999 Oct-Dec       Impact factor: 1.568

Review 2.  Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.

Authors:  Silje Rafaelsen; Stefan Johansson; Helge Ræder; Robert Bjerknes
Journal:  BMC Genet       Date:  2014-09-24       Impact factor: 2.797

  2 in total

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