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At least 397 records · Page 22Linked to original sources
PubMed1978

Prostaglandin PGE2: a possible mechanism for bone destruction in calcinosis circumscripta.

A patient showed evident osteolysis in phalanges and heavy periarticular calcium deposits of the fingers, wrists and toes which avidly took up 47Ca. The dense, white, tooth-paste like fluid contained in the periarticular calcium deposits has been studied by two different X-ray diffraction methods, by Ubatuba's bioassay for prostaglandin, by thin layer chromatography and by mass spectrometry. The calcium deposits were hydroxyapatite and prostaglandin PGE2 was detected in them. The bone resorption stimulating activity of PGE2 would be expected to result in increased bone destruction with release of calcium salts and this could be a working hypothesis of the pathogenesis of calcinosis circumscripta.

Calcinosis↗
PubMed1982

Tumoral calcinosis: case report and review.

A case of tumoral calcinosis is presented. The characteristic clinical, radiologic, and pathologic features of this uncommon disease are described and the various speculations about its etiology are examined, based on a review of the approximately 150 cases which comprise the world literature concerning this disease. The differential diagnosis of periarticular calcified soft tissue masses is discussed.

Calcinosis↗
PubMed2006

[Calcinosis cutis in Albright hereditary osteodystrophy: pseudohypoparathyroidism type Ia].

Albright hereditary osteodystrophy (AHO) is characterized by a symptom complex including short stature, brachymetacarpia, obesity, round facies, cutaneous osteomas, and mental retardation. AHO is caused by mutations in the GNAS-gene localized on chromosome 20 encoding for Gsalpha protein, a signal transducer of endocrine pathways. Therefore, AHO is often associated with endocrinopathy such as pseudohypoparathyroidism or hypothyroidism. A nine-month-old boy presented with typical features of this syndrome. The diagnosis was confirmed by biochemical and molecular analyses. An unusual feature was calcinosis cutis at such an early age, which led to extensive differential diagnostic procedures.

Calcinosis↗
PubMed2004

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

Hyperphosphatemia-hyperostosis syndrome (HHS) is a rare autosomal recessive metabolic disorder characterized by elevated serum phosphate levels and repeated attacks of acute, painful swellings of the long bones with radiological evidence of periosteal reaction and cortical hyperostosis. HHS shares several clinical and metabolic features with hyperphosphatemic familial tumoral calcinosis (HFTC), which is caused by mutations in GALNT3 encoding a glycosyltransferase responsible for initiating O-glycosylation. To determine whether GALNT3 is involved in the pathogenesis of HHS we screened two unrelated Arab-Israeli HHS families for pathogenic mutations in this gene. All affected individuals harbored a homozygous splice site mutation (1524+1G-->A) in GALNT3. This mutation was previously described in a large Druze HFTC kindred and has been shown to alter GALNT3 expression and result in ppGalNAc-T3 deficiency. Genotype analysis of six microsatellite markers across the GALNT3 region on 2q24-q31 revealed that the HHS and HFTC families share a common haplotype spanning approximately 0.14 Mb. Our results demonstrate that HHS and HFTC are allelic disorders despite their phenotypic differences and suggest a common origin of the 1524+1G-->A mutation in the Middle East (founder effect). The heterogeneous phenotypic expression of the identified splice site mutation implies the existence of inherited or epigenetic modifying factors of importance in the regulation of ppGalNAc-T3 activity.

Calcinosis↗
PubMed1996

Idiopathic tumoral calcinosis involving the cervical spine.

We report a case of a 12-year-old girl with idiopathic tumoral calcinosis of the neck. There are calcium deposits in the paraspinal soft tissue with bony involvement in the cervical spine. CT and MR images are presented along with clinical and pathological features. Bony involvement in this disease has not been recognized before.

Calcinosis↗
PubMed1996

Tumoral calcinosis in an infant.

We report tumoral calcinosis, an uncommon disease of uncertain origin, in an infant-only the sixth instance of the disease reported in this age group. The radiologic features are typical as illustrated by three modalities. The clinical, radiologic and pathologic features are discussed along with comments concerning possible etiologies and management.

Calcinosis↗
PubMed1997

[Heterotopic (extraosseous) calcification (calcinosis). Etiology, pathogenesis and clinical importance].

Heterotopic tissue calcification represents a pathological event which goes along with active extra- and intracellular metabolic processes. The heterotopic calcification is not the manifestation of tissue ageing. Aetiologically, metastatic calcification, dystrophic calcification and genetic-hereditary calcification are distinguished. Two pathogenetic mechanisms play a role during the heterotopic calcification. The intracellular calcification is based upon the function of mitochondria as regulator of the calcium concentration and as "lime-catcher". The extracellular calcification is initiated by membraneous organelles--so-called matrix vesicles. The further steps are the production of hydroxylapatite crystals which are eliminated from the matrix vesicles in the extracellular spaces. Special types of heterotopic calcification are hypercalcaemias (tumour-associated hypercalcaemias, primary and tertiary hyperparathyroidism, drug-induced hypercalcaemias), tumoral calcinosis, intratumoral calcifications, calcifications of different organs (lung, heart, vessels, joints, ligaments, skin or kidney). Some calcifications of organs show partly overlapping aetiological factors and pathogenetic mechanisms.

Aging↗
PubMed2003

Tumoral calcinosis revisited: pathophysiology and treatment.

In two renal failure patients, tumoral calcinoses were observed as a result of secondary hyperparathyroidism. The primary conservative therapy conducted with dietetic measures and phosphate-binding medication could not prevent the progression of the massive polytopic foci. Therefore, a subtotal parathyroidectomy was performed in one case, after which a rapid complete regression of the tumours was observed, with the exception of one location where the finding remained progressive. The second patient declined surgical intervention on the parathyroid gland. Therefore, the foci were only resected, whereby local recurrences were observed. Renal failure patients with tumoral calcinosis should undergo subtotal parathyroidectomy after initial conservative therapy. In view of the high risk of recurrence, local excision is a treatment procedure to be considered in exceptional cases only.

Adult↗
PubMed1998

[Mönckeberg media calcinosis].

Mönckeberg's disease (MD) is characterized by media calcinosis (MC) of the arteries of the lower extremities. MC is distinct from atherosclerosis, occurs in different vascular beds, and its etiology is unknown. Here, we report a case of a 46-year old male with no prior medical history of cardiovascular disease, no metabolic risk factors, and normal laboratory findings, who presented with accidental findings of marked diffuse calcifications along the entire course of the femoral superficial and profunda arteries on plain x-ray films. Follow-up cardiovascular diagnostics using high resolution B-mode ultrasonography, ultrafast CT, and x-ray angiography revealed extensive abluminal arterial wall calcification without evidence for premature or advanced intima-related atherosclerosis in the abdominal aorta, in the arteries of the pelvis, and the lower extremities. Calcifications were also present in the proximal segments of the circumflex and left anterior descending coronary arteries. The carotid arteries showed no calcium deposits. This observation confirms that MC may occur in the absence of secondary risk factors (primary MC) and independently of atherosclerosis. Simultaneous involvement of several vascular territories including the coronary arteries appears possible. The systemic character of primary MC is consistent with a genetical cause of this as yet poorly defined disease.

Arteriosclerosis↗
PubMed2004

A case of familial tumoral calcinosis in a neonate and review of the literature.

BACKGROUND: Tumoral calcinosis occurs in two distinct clinical forms. The sporadic form is secondary to chronic renal failure, hyperparathyroidism, milky-alkali syndrome, hypervitaminosis D and other systemic disorders. The familial form is extremely rare (around 100 cases worldwide) and affects patients in the first or second decade of life. It is believed to be transmitted in a dominant autosomal manner with variable clinical expressivity and is manifested as hyperphosphatemia, elevated serum 1,25-dihydroxyvitamin D with juxta-articular tumorous calcifications. Moreover, the theory of a unique dental malformation serving as a screening marker for clinically non-apparent affected individuals is revisited and reconfirmed. CASE REPORT: We present a case of a Caucasian male newborn, as well as a review of the literature with differential diagnostic considerations and their therapeutical implications.

Calcinosis↗
PubMed2005

A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.

Hyperphosphatemic Familial Tumoral Calcinosis (HFTC; MIM211900) is a rare autosomal recessive disorder characterized by the progressive deposition of calcified masses in cutaneous and subcutaneous tissues, associated with elevated circulating levels of phosphate. The disease was initially found to result from mutations in GALNT3 encoding a glycosyltransferase. However, more recently, the S71G missense mutation in FGF23, encoding a potent phosphaturic protein, was identified in two families. In the present report, we describe a second mutation in FGF23 underlying a severe case displaying calcifications of cutaneous and numerous extracutaneous tissues. The mutation (M96T) was found to affect a highly conserved methionine residue at position 96 of the protein. These observations illustrate the extent of genetic and phenotypic heterogeneity in HFTC.

Amino Acid Substitution↗
PubMed2006

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

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 African-American populations.

Adult↗
PubMed1986

Taurine protection against experimental arterial calcinosis in mice.

Combined administration of vitamin D3 and nicotine produced severe myocardial and aortic calcinosis in mice within 4 days. Treatment of these mice with taurine increased the survival rate of the mice and reduced the elevation of calcium content in both aorta and myocardium as did diltiazem treatment. The present study suggests that taurine which is capable of regulating calcium flux may also prevent the progression of arteriosclerosis.

Animals↗
PubMed1975

A sublingual-submandibular calcific mass associated with tumoral calcinosis in a patient with suspected milk-alkali syndrome.

The milk-alkali syndrome is a disorder with diverse clinical and biochemical manifestations. It includes three known clinical syndromes. A case of milk-alkali syndrome with associated tumoral calcinosis is presented. The patient developed an unusual oral mass as part of the disease complex. Treatment consisted of excision of the intraoral mass, diet management, and surgical correction of the associated ulcer disease.

Aged↗
PubMed1983

Idiopathic calcinosis of scrotum.

A case of idiopathic calcinosis of the scrotum is presented. Clinical recognition is easy if one keeps in mind such a disease in differential diagnosis of scrotal lesions. The serum levels of parathyroid hormone, calcitonin, calcium ion, and 25-OH vitamin D were normal. Multiple nodules were removed successfully, and the cosmetic result was excellent.

Adult↗
PubMed1983

Calcium-phosphate metabolism in autosomal recessive idiopathic strio-pallido-dentate calcinosis and Cockayne's syndrome.

In three siblings with autosomal recessive idiopathic strio-pallido-dentate calcinosis (SPDC) and in three other siblings with Cockayne's syndrome (CS) studies on plasma values of calcium and phosphate, intestinal calcium absorption, radiograms of the hands and studies on the influence of parathyroid hormone (PTH) on the renal threshold for phosphate revealed no abnormalities. In one of the SPDC patients and one of the CS patients the effect of PTH on the cyclic adenosine monophosphate (cAMP) concentrations in urine and cerebrospinal fluid (CSF) were determined. In both a normal response of urinary cAMP was noted. In the CS patient the response of CSF cAMP was also normal. The SPDC patient, however, had a significantly decreased response of CSF cAMP. It is suggested that a decreased sensitivity of the cerebral adenylate cyclase complex is involved in the etiology of autosomal recessive idiopathic SPDC. Subsequently this disorder could be considered as cerebral pseudohypoparathyroidism. The etiology of CS remains unknown.

Adolescent↗