Tumoral calcinosis revisited ? common and uncommon features

Metzker, Aryeh; Eisenstein, Bella; Oren, Joseph; Samuel, R.

doi:10.1007/bf00442209

Cited by 59 publications

(49 citation statements)

References 21 publications

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“…Most patients reported in the literature were adolescents or young adults and were from the tropical and subtropical regions of Africa [1,22,30,31,42]. Hyperphosphatemia has been found in some individuals, but serum calcium and parathyroid hormone levels are reported normal [3,21,22,24,26,32,34,35,38,45]. An apparent inherited disorder of phosphate and vitamin D metabolism has also been described [8,19,28,34,37,38,48].…”

Section: Discussionmentioning

confidence: 99%

Tumoral calcinosis-like lesion of the proximal linea aspera

et al. 1990

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Abstract. Tumoral calcinosis is presently a poorly defined disease. In its classic form, it consists of multiple large foci of benign mineralization in the soft tissuc adjacent to bone near large joints. Patients are generally of African descent and are adolescents or young adults at presentation. Both metabolic and traumatic etiologies have been proposed. We report six adult Caucasian patients with lesions that pathologically resembled tumoral calcinosis. All lesions were small (less than 3 x 3 cm) and were located along the proximal 1inca aspera of the femur. All patients presented with pain. Because of the atypical patient population and the unusual size and location of the lesions, we refer to this process as a "tumoral calcinosis-like lesion." A typical radiographic appearance and location, together with appropriate clinical history, can strongly suggest this diagnosis.

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Section: Discussionmentioning

confidence: 99%

Tumoral calcinosis-like lesion of the proximal linea aspera

et al. 1990

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“…Familial tumoral calcinosis (FTC) is a severe metabolic disorder characterized by extraosseous calcium phosphate deposition in the skin, muscle, joints, and visceral organs, resulting in incapacitating joint pain, secondary skin infections and various organ dysfunction (Metzker et al 1988). It is often associated with hyperphosphatemia (Smack et al 1996), and is then termed hyperphosphatemic familial tumoral calcinosis (HFTC; MIM211900).…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2006

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Hyperphosphatemic familial tumoral calcinosis (HFTC) is an autosomal recessive metabolic disorder characterized by extensive phenotypic and genetic heterogeneity. HFTC was shown recently to result from mutations in two genes: GALNT3, coding for a glycosyltransferase responsible for initiating O-glycosylation, and FGF23, coding for a potent phosphaturic protein.All GALNT3 mutations reported so far have been identified in patients of either Middle Eastern or African-American extraction, corroborating numerous historical reports of the disorder in Africa and in the Middle East. In the present study, we describe a patient of Northern European origin displaying typical features of HFTC. Mutation analysis revealed that this patient carries a homozygous novel nonsense mutation in GALNT3 predicted to result in the synthesis of a significantly truncated protein. The present results expand the spectrum of known mutations in GALNT3 and demonstrate the existence of HFTC-causing mutations in this gene outside the Middle Eastern and AfricanAmerican populations.

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“…ADHR and HFTC are rare diseases in the world. However, both disorders occur in Africa and the Middle East, and both conditions are reported in nations descending from these populations [11,12,13,14,15,16,17]. …”

Section: Introductionmentioning

confidence: 99%

Development and Validation of a Simple Diagnostic Method to Detect Gain and Loss of Function Defects in Fibroblast Growth Factor-23

Ramadan

Shawar²,

Ghamdi³

2016

Horm Res Paediatr

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Background: Fibroblast growth factor-23 (FGF23) is a bone-derived hormone that regulates the homeostasis of phosphate and vitamin D. Three substitutions in the hormone are reported to cause autosomal dominant hypophosphatemic rickets and seven substitutions to cause autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). Both disorders are rare in the general population and occur most often in the Eastern Mediterranean region and Africa. None of the mutations could be identified using standard restriction fragment length polymorphism. The only technique currently available to confirm the clinical diagnosis is DNA sequencing. Methods: Using a tri-primer ARMS-PCR, in vitro site-directed mutagenesis and DNA sequencing, we developed, verified and validated a rapid and reliable diagnostic test for the ten mutations in FGF23. Results: We generated a test for all ten mutations and confirmed each test by DNA sequencing. We increased the specificity of the test by introducing a mismatch at position -2 in the 3′-terminus of the reverse primer of the normal and the mutant sequences. Finally, using DNA sequencing, we validated the technique for FGF23/S129F substitution by testing samples from 80 individuals from two unrelated Arab families harboring HFTC. Conclusions: This inexpensive and specific method could be adopted where DNA sequencing is not available or affordable.

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Tumoral calcinosis revisited ? common and uncommon features

Cited by 59 publications

References 21 publications

Tumoral calcinosis-like lesion of the proximal linea aspera

Tumoral calcinosis-like lesion of the proximal linea aspera

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

Development and Validation of a Simple Diagnostic Method to Detect Gain and Loss of Function Defects in Fibroblast Growth Factor-23

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