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Results for “CALCINOSIS”

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At least 487 records · Page 27Linked to original sources
PubMed2006

The role of mutant UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis.

CONTEXT: Familial tumoral calcinosis (TC) results from disruptions in phosphate metabolism and is characterized by high serum phosphate with normal or elevated 1,25 dihydroxyvitamin vitamin D concentrations and ectopic and vascular calcifications. Recessive loss-of-function mutations in UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3) and fibroblast growth factor-23 (FGF23) result in TC. OBJECTIVE: The objective of the study was to determine the relationship between GALNT3 and FGF23 in familial TC. DESIGN, SETTING, AND PATIENTS: We assessed the major biochemical defects and potential genes involved in patients with TC. INTERVENTION: Combination therapy consisted of the phosphate binder Sevelamer and the carbonic anhydrase inhibitor acetazolamide. RESULTS: We report a patient homozygous for a GALNT3 exon 1 deletion, which is predicted to truncate the encoded protein. This patient had high serum FGF23 concentrations when assessed with a C-terminal FGF23 ELISA but low-normal FGF23 levels when tested with an ELISA for intact FGF23 concentrations. Matrix extracellular phosphoglycoprotein has been identified as a possible regulator of phosphate homeostasis. Serum matrix extracellular phosphoglycoprotein levels, however, were normal in the family with GALNT3-TC and a kindred with TC carrying the FGF23 S71G mutation. The tumoral masses of the patient with GALNT3-TC completely resolved after combination therapy. CONCLUSIONS: Our findings demonstrate that GALNT3 inactivation in patients with TC leads to inadequate production of biologically active FGF23 as the most likely cause of the hyperphosphatemic phenotype. Furthermore, combination therapy may be effective for reducing the tumoral burden associated with familial TC.

Amino Acid Sequence↗
PubMed2006

Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene.

CONTEXT: Familial tumoral calcinosis (TC) is a rare autosomal recessive disorder characterized by metastatic calcifications, often periarticular. Biochemical findings include hyperphosphatemia, high 1,25-dihydroxyvitamin D levels, and elevated tubular maximum for phosphate reabsorption per deciliter of glomerular filtrate (TmP/GFR). TC is caused by biallelic mutations of the genes encoding either fibroblast growth factor 23 (FGF23) or uridine diphosphate-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc transferase 3 or GALNT3). OBJECTIVE: The objective was to identify mutations in FGF23 or GALNT3 responsible for a mild TC phenotype by DNA sequencing and to determine serum FGF23 levels by ELISA. PATIENTS OR OTHER PARTICIPANTS: The subject was a 25-yr-old Caucasian woman with eyelid calcifications and biochemical features of TC. RESULTS: Eyelid biopsy revealed superficial dermis calcifications. There was no history of metastatic calcifications, mineral homeostasis abnormalities, or renal dysfunction. Biochemistry revealed normal levels of calcium, creatinine, PTH, and 25-hydroxyvitamin D, with elevated phosphorous, TmP/GFR, and high normal 1,25-dihydroxyvitamin D levels. Intact FGF23 was undetectable (< 3 pg/ml), whereas C-terminal FGF23 was elevated (698.2 RU/ml). Mutation detection revealed compound heterozygosity for two novel mutations in the glycosyl transferase domain of the GALNT3 gene. CONCLUSION: Previously reported GALNT3 mutations in TC have been null mutations. This study shows that missense mutations affecting the glycosyl transferase domain of GalNAc transferase 3 also cause TC. Elevated C-terminal FGF23 fragments with undetectable intact FGF23 suggest that the mutant enzyme lacks the ability to glycosylate FGF23 and that glycosylation by GalNAc transferase 3 is necessary for secretion of functional full-length FGF23.

Adult↗
PubMed2006

Recurrent tumoral calcinosis.

Tumoral calcinosis is a rare, benign disease that commonly affects the African blacks. We report on a 20-year-old Nigerian presenting with recurrent multiple subcutaneous masses around the scapular, elbow, hip and gluteal regions. The X-rays, fine needle aspiration cytology and tissue biopsy confirmed the diagnosis and the patient had a successful excision with good healing.

Adult↗
PubMed2004

Calcinosis circumscripta on lingual muscles and dermis in a dog.

A 10-month old male Shi-tzu was presented with a week history of scurfy skin and whitish masses located in the ventral portion of tongue. Grossly, two whitish prominences with diameters of 3 to 4 mm were found on the underside of the tongue. Microscopically, in ulcerative epidermis, deposition of dense, amorphous granular basophilic calcium salts was separated by thin fibrous connective tissue containing mild inflammation. Many fascicles were characterized by replacement of degenerating myofibers with calcification. The precise cause of calcification could not be determined; however, it is interesting that two different lesions shown in calcinosis circumscripta and slight nutritional myopathy were also observed simultaneously only in the tongue.

Animals↗
PubMed1996

Hydroxyapatite crystals in tumoral calcinosis: a case report.

Calcified deposits of tumoral calcinosis from a 77-year-old Japanese woman were examined by scanning electron microscopy (SEM) and x-ray diffraction method. SEM revealed conglomerates of granular calcified materials 0.2 to 0.5 micron in size. X-ray diffraction method revealed the presence of hydroxyapatite that was highly crystallized. No other components such as calcium pyrophosphate dehydrate were detected.

Aged↗
PubMed1992

Arterial calcinosis, chronic renal failure and calcium antagonism.

A progressive rise in arterial calcium content is the most characteristic age-associated alteration in the arterial wall and the decisive factor in arteriosclerotic degeneration. Experimental studies have demonstrated that calcium antagonists can prevent or retard the development of arterial calcinosis associated with vitamin D overload, hypertension or alloxan-induced diabetes. Although similar effects are more difficult to observe in humans, they have been demonstrated in patients with coronary artery disease and in patients with end-stage renal disease, which is characterised by an acceleration of the normal arterial aging process.

Aging↗
PubMed1994

Idiopathic calcinosis of the scrotum--a specific entity of the scrotal skin. Case report.

A 69 year old patient with relapsing idiopathic scrotal calcinosis (ICS) is presented. Histological evaluation of the excised material showed the typical morphological features of calcified material within the corium. A review of the literature revealed 12 of 75 patients who had evidence of epithelial lining of the corial calcifications. Generally the calcified masses were surrounded by granulation tissue with mononuclear and foreign body giant cells. There is accumulating evidence for dystrophic calcification of cyst rather than an idiopathic genesis.

Aged↗
PubMedDate not supplied

Idiopathic calcinosis of the scrotum: scanning electron microscopic study with X-ray microanalysis.

In a 31-year-old man 12 nodules up to 1 cm in diameter were observed in the scrotum; these had developed over 3 years. Energy-dispersive x-ray analysis of the dermal foci showed a high content of calcium and phosphorus even in nodules smaller than 1 mm in diameter. No increased mineral deposition was observed in the surrounding connective tissue, however. Scanning electron microscopy revealed finely granulated crystals, and cellular remnants giving rise to development of calcified nodules were disclosed. The results support the hypothesis of a degenerative origin of scrotal calcinosis.

Adult↗
PubMed1984

Systemic sclerosis: successful treatment of ulcerations, pain, Raynaud's phenomenon, calcinosis, and dysphagia by transcutaneous nerve stimulation. A case report.

Transcutaneous nerve stimulation (TNS) has previously been shown to improve microcirculation in ischemic limbs of patients with Raynaud's phenomenon and diabetic neuropathy and to accelerate healing of chronic skin ulcerations. The present report deals with a patient with systemic sclerosis in which Raynaud's phenomenon, ulcerations and pains in the feet, calcinosis and dysphagia have been successfully treated by TNS. The mechanisms implicated are discussed.

Calcinosis↗
PubMed2001

Tumoral calcinosis: case report.

Tumoral calcinosis (TC) is a rare disease of obscure aetiology. In its classic form, it is characterised by solitary or multiple large foci of mineralisation in the soft tissue adjacent to the bone around large joints in the absence of disorders of calcium metabolism and visceral calcification. A case is presented of TC in a 75-year old Kenyan woman.

Aged↗
PubMedDate not supplied

Severe calcinosis cutis associated with treatment of hypoparathyroidism in a dog.

A 6-month-old, female border collie was referred for evaluation of hypocalcemia, hyperphosphatemia, fever, and painful ventral abdominal skin. She had recently been treated intravenously and subcutaneously (SC) with a diluted 10% calcium gluconate solution. The medical evaluation supported the diagnosis of primary hypoparathyroidism, but the subsequent hospital course was complicated by severe calcinosis cutis, which caused extensive skin necrosis and marked debilitation. This patient illustrates that administration of a calcium gluconate solution SC can be associated with extensive morbidity when administered to hyperphosphatemic patients.

Abdomen↗
PubMed1980

Calcium and phosphate metabolism in tumoral calcinosis.

We have recently seen a patient with tumoral calcinosis, a syndrome comprising hyperphosphatemia, normocalcemia, normal glomerular filtration rate (GFR), and extensive periarticular calcific masses. Parathyroid hormone (PTH) deficiency or target organ resistance was ruled out by demonstration of normal serum PTH and urinary 3'5'cyclic AMP excretion and normal response to exogenous PTH and to endogenous stimulation by ethylenediaminetetraacetate. An intrinsic proximal tubular defect allowing enhanced renal PO4 reabsorption was probably present because there was no phosphaturic response to acetazolamine and renal PO4 threshold remained abnormally elevated even after PTH infusion. We then studied the mechanism by which serum calcium level is maintained in the normal range despite hyperphosphatemia and absence of secondary hyperparathyroidism. Normal 1,25-(OH)2 vitamin D was found, suggesting normal gastrointestinal calcium absorption. This, combined with markedly reduced urinary calcium excretion, perhaps a direct effect of hyperphosphatemia, may maintain calcium balance and prevent secondary hyperparathyroidism. A rise in urinary cyclic AMP excretion after furosemide-induced calciuria supports this hypothesis.

Adult↗
PubMedDate not supplied

[Histopathogenetic aspects in a case of Fahr's disease (non arteriosclerotic calcinosis of the brain) (author's transl)].

The study of one case of non arteriosclerotic calcinosis of the brain (Fahr's Disease) gives an opportunity for a discussion on the main pathogenetic aspects of this syndrome. Some features of hypertrophy and hyperplasia of astrocytes contrast with the fair preservation of neurons. It is suggested that such condition should be considered as an "astroglial syndrome" in Seitelberg's terminology.

Adult↗
PubMed1999

[Calcinosis in sheep. Case report].

A case of calcinosis outside the typical area of incidence is reported. Problems of diagnosis of the disease are illustrated and epidemiological factors are discussed.

Animals↗
PubMed1999

[Calcinosis in goats].

Death, abortion, decreased milk yield and emaciation in dairy goats occurred due to calcinosis in a goat operation on 1100 meter sea level in Tyrol. This could be diagnosed by the clinical, sonographical and pathomorphological investigation. In the basic fodder yellow oat grass proportion was present with 40%. Clinically the apathic goats showed reduced appetite, emaciation, dyspnea, anaemic mucous membranes, heart noises and less activity to move. The blood-chemical examination of one goat revealed an increased activity of AP (199 U/l), calcium and phosphor-concentrations were in normal range. Sonographically liquidothorax and -perikard, calcified pulmonary and aortic valves and a thickened aortic orifice as well as calcification of kidneys, enlargment of liver and ascites could be diagnosed in this goat. The sonographical findings were confirmed by pathomorphological examination.

Abortion, Veterinary↗
PubMedDate not supplied

Tumoral calcinosis: a case report with an electron microscopic study.

A 68-year-old woman developed large subcutaneous masses on her abdomen and thighs after a bruise sustained in a traffic accident. She had severe pain when sitting up straight. Histological examination revealed calcified tissues in the entire dermis of the injured areas. On electron microscopy, crystalline materials were observed in the dermis, which seemed to be formed by the deposition of hydroxyapatite on unusual proteoglycan. In a vessel wall, a thick, layered basement membrane was observed. This suggests that vascular injury and subsequent hypoxia play a role in the process of calcinosis. We performed a partial resection with good results in alleviating the patient's pain.

Accidents, Traffic↗
PubMed2000

[Tumoral calcinosis of the foot in patient on hemodialysis].

We report a new case of tumoral calcinosis in a renal failure patient. In this patient the pseudotumoral formation was found in an unusual localization on the medial border of the foot. The condition progressed with successive development of bilateral tumors and septic contamination. Pathology confirmed the diagnosis. The patient was successfully treated with tumor resection and renal graft. The origin of these pseudotumors remains a question of debate. Several pathogenc mechanisms have been put forward. Pronosis is always favorable. Several authors have suggested a phosphorus calcium work-up can be useful for classifying these tumors, guiding surgical treatment if required and managing the underlying cause.

Adult↗