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At least 433 records · Page 24Linked to original sources
PubMed2003

Spinal cord compression due to tumoral idiopatic calcinosis.

STUDY DESIGN: A case of thoracic spinal cord compression due to tumoral calcinosis (TC) is reported. SETTING: Galiza, Spain. CASE REPORT: A 59-year-old man was admitted to our hospital with a 2-month history of gradual leg weakness and sensory deficit. The neurological examination revealed paraparesis with T12 sensory level. Magnetic resonance imaging (MRI) showed an extradural right posterolateral mass at T11-T12 level, resulting in a marked spinal cord compression. He underwent T11-T12 laminectomy and mass excision. Histological examination finally led to the diagnosis of TC. CONCLUSION: TC is an uncommon cause of mass lesions of the spine. Since there is no typical spine TC MRI appearance, the final diagnosis is done by histological studies. TC should be considered in differential diagnosis of spinal cord compression and constitutes a treatable cause of paraparesis.

Calcinosis↗
PubMed1997

Tumoral calcinosis: a clinicopathological study of 111 cases with emphasis on the earliest changes.

AIMS: To study the pathogenesis of tumoral calcinosis (TC), we investigated 111 cases registered in Zaire over 30 years. METHODS AND RESULTS: The patients were 108 black Africans and three Caucasians between 3 and 74 years of age (mean, 37.7; median, 39). The gender was known in 33 males and 46 females; in 79 the gender was unknown. All but three were healthy and one had tuberculosis. The majority presented with a painless swelling in single or multiple periarticular regions. The hip was the most commonly affected (57%). Seven recurrences after surgical removal of the mass were reported. On microscopic examination, lesions were classified as follows: 24% stage I, 16% stage II and 60% stage III depending on the cellular activity at the border of the cysts. In five stage I cases only, and in no advanced stage II/III lesions, were exuberant cellular proliferative changes seen adjacent to the classical cystic form. These consisted of either ill-defined reactive-like perivascular solid cell nests admixed with mononuclear and iron-loaded macrophages, or well-organized variably sized fibrohistiocytic nodules embedded in a dense collagenous stroma. These immature changes indicated newly appearing lesions and were assumed to represent the earliest discernible stages in the evolution of TC. The unique well-defined fibrohistiocytic nodules have not been described previously. CONCLUSIONS: These findings have thus described the full spectrum of lesions occurring in TC. We believe that the adjacent findings are potentially important either in recognizing early stages of the disease or in understanding its pathogenesis.

Adolescent↗
PubMedDate not supplied

Calcinosis cutis following calcium chloride electrode paste application for auditory-brainstem evoked potentials recording.

Circumscribed calcification in the dermis (calcinosis cutis) has been reported following electroencephalographic and electromyographic studies at sites of electrode placement following application of an electrode paste containing calcium chloride. Prolonged exposure and skin microabrasions seem to increase the risk of this rare complication of electrode placement, which has not been previously reported following auditory brainstem evoked potential recordings. We report the appearance of localized dermal calcifications at the sites of electrode placement (forehead and retroauricular areas) following auditory brainstem evoked potential recordings in two children, aged 3 and 2 years, respectively. In both cases the electrodes were applied after gentle scrubbing with an ethanol-impregnated gauze and interposition of a calcium chloride bentonite magma paste. The recording took about 1 hour. Erythematous macules and plaques ranging from 4 to 12 mm in diameter, studded with small stony excrescences, appeared at the areas of electrode application 1 and 5 days later, respectively. Histopathologic study of 4 mm punch biopsy specimens showed amorphous dermal deposits of calcium salts. There was superficial ulceration and transepidermal elimination of the calcium deposits, as well as a foreign body tissue reaction in the surrounding dermis. In both patients small stony pellets were extruded during the healing process, which took 11 and 9 weeks, respectively, and left no scars.

Calcinosis↗
PubMed2000

Cell differentiation and bone protein synthesis in the lungs of sheep with spontaneous calcinosis.

The lungs of three sheep with spontaneous enzootic calcinosis induced by the calcinogenic plant Nierembergia veitchii (Nv) were examined electron microscopically and immunohistochemically. The main ultrastructural changes were activation of fibroblasts and modified smooth muscle cells (SMCs) in the pulmonary interstitium, with an increase in extracellular matrix and precipitation of calcium, either in a laminated pattern or as amorphous aggregates. Macrophages and multinucleated giant cells, some with calcium crystals in the cytoplasm, were found in areas of increased extracellular matrix. Thickening and replication of the basal lamina of capillaries were prominent. The bone proteins osteocalcin, osteopontin and osteonectin were detected immunohistochemically in the cytoplasm of activated fibroblasts, in modified SMCs and in the extracellular matrix. It is suggested that 1,25-dihydroxyvitamin D(3)in Nv induces cellular differentiation and the synthesis of a calcifiable matrix.

Animals↗
PubMed1976

[The diagnosis of pulmonary calcinosis by scintigraphy (author's transl)].

Three patients are described who were examined with the bone-seeking substance 99mTc-E.H.D.P. The abnormalities discovered were ascribed to metastatic calcification in the lungs. The patients suffered from three quite different conditions, but in each there was hypercalcaemia. One patient had chronic renal insufficiency with secondary hyperparathyroidism, in the other cases the cause of the hypercalcaemia could not be determined. In one patient, it was possible to confirm the diagnosis of pulmonary calcinosis histologically. Previously published cases indicate that it is possible to demonstrate lung calcification by using Tc-phosphate compounds, particularly 99mTc-E.H.D.P. This is important, since it is often not possible to demonstrate it radiologically. It further demonstrates that the accumulation of 99mTc-E.H.D.P. is dependent on active bone metabolism.

Adolescent↗
PubMed2002

Tumoral calcinosis: 12 years later.

During the last 12 years, tumoral calcinosis (TC) has become an entity that is better understood by radiologists, clinicians, and pathologists. Several aspects of TC are well documented by the scientific community, although the most important, etiology, remains an enigma. As a consequence, the treatment of TC continues to be symptomatic. Imaging continues to be the best method for diagnosis, assessing extension, evaluating complications, monitoring treatment, and selecting patients for surgical excision. Investigators from different countries are reporting the most elusive component of TC: calcific myelitis. New systemic and cerebrovascular complications, even in the young, have been described recently. Similarly, ocular manifestation, which had not been reported previously, is well described in the recent literature. A few, poorly documented reports are confounding TC myelitis with osteomyelitis and TC periarticular soft tissue masses with tumoral calcium pyrophosphate dihydrate (CPPD) of the temporomandibular joint and spine. Advances in the clinical arena have resulted in a new approach and classification of several clinical forms of TC. Most of the recent literature has been related to the histopathology of TC. A new view of the old "traumatic theory" suggests microtrauma of connective tissues around the joints, causing bleeding and the formation of rudimentary bursae as the initial event. Perhaps, in the near future, research will define at the genetic and molecular levels the etiology and pathophysiology that will allow the treatment and prevention of TC.

Calcinosis↗
PubMed1980

Tumoral calcinosis. Observations during six years.

Findings of a 56 year old woman suffering from tumoral calcinosis, who was treated for 6 years, are presented. Under conditions known to lead to negative calcium-phosphorus balance, a reduction in tumor size was seen. Transient hypercalcemia was attributed to immobilization. The process of tumor reduction was not definitely accelerated by treatment with ethane-hydroxy-diphosphonate (EHDP; 500 mg/day for 20 months). Nephrotic syndrome as a consequence of amyloidosis developed. Amyloidosis seems to have resulted from the aseptic histiocytic inflammatory process in the tumors. The possible importance of high cholesterol in very low density lipoproteins in the serum of the patient is discussed.

Amyloidosis↗
PubMedDate not supplied

[Familial interstitial calcinosis (a 20-year follow-up study)].

We report on observations in the progress of Calcinosis Interstitialis Universalis in three generations of one family. Some members could be followed for more than 20 years. Each member of the family was examined and the course of the disease described. Part of the family underwent functional analysis by a specialist in internal medicine. Our conclusion is, that, at least, in this family, the disease is in all probability, a genetically fixed, dominant hereditary disease.

Adult↗
PubMed1983

[Calcinosis of the eyelid].

Subepidermal calcified nodules are a well known clinical and histologic entity. Their occurrence in the lids should be recognized. Their origin remains obscure. All of the authors' patients were under 21 years old and had had the lesion for a number of years. The calcinosis must be a lesion which is acquired in early life and grows slowly for a few years. It does not cause any clinical symptoms. Histologically, the lesion consists of calcium deposits which are only rarely surrounded by an inflammatory (granulomatous) reaction.

Adolescent↗
PubMed2000

Pseudoxanthoma elasticum and calcinosis cutis.

A 42-year-old white woman presented with clinical and histologic manifestations of both calcinosis cutis and pseudoxanthoma elasticum: discrete milia-like calcifications at the anterior aspect of the neck, a funduscopic examination with classic eye findings, peripheral vascular disease, and a mottled appearance of the skin at the axillae, groin, and lateral aspects of the neck. A younger sibling had similar skin lesions and deteriorating visual acuity. The patient was normocalcemic and normophosphatemic. This case may represent the coincidental occurrence of two rare entities in the same person or may be suggestive of a pattern of dystrophic calcification associated with pseudoxanthoma elasticum.

Adult↗
PubMed2001

Tumoral calcinosis in both index fingers: a case report.

Tumoral calcinosis is an uncommon disease of unknown aetiology that usually involves the periarticular tissues of large joints. We report a rare case in which it presented in both index fingers in a 5-year-old boy. The tumours were resected and he made an uncomplicated recovery except for mild tapering deformity on the left. There has been no sign of recurrence a year later.

Calcinosis↗
PubMed2006

A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.

Familial tumoral calcinosis (FTC) is a rare autosomal recessive disorder characterized by the progressive deposition of calcified masses in cutaneous and subcutaneous tissues, which results in painful ulcerative lesions and severe skin and bone infections. Two major types of FTC have been recognized: hyperphosphatemic FTC (HFTC) and normophosphatemic FTC (NFTC). HFTC was recently shown to result from mutations in two different genes: GALNT3, which codes for a glycosyltransferase, and FGF23, which codes for a potent phosphaturic protein. To determine the molecular cause of NFTC, we performed homozygosity mapping in five affected families of Jewish Yemenite origin and mapped NFTC to 7q21-7q21.3. Mutation analysis revealed a homozygous mutation in the SAMD9 gene (K1495E), which was found to segregate with the disease in all families and to interfere with the protein expression. Our data suggest that SAMD9 is involved in the regulation of extraosseous calcification, a process of considerable importance in a wide range of diseases as common as atherosclerosis and autoimmune disorders.

Amino Acid Sequence↗
PubMed2004

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

Familial tumoral calcinosis (FTC) is an autosomal recessive disorder characterized by ectopic calcifications and elevated serum phosphate levels. Recently, mutations in the GALNT3 gene have been described to cause FTC. The FTC phenotype is regarded as the metabolic mirror image of hypophosphatemic conditions, where causal mutations are known in genes FGF23 or PHEX. We investigated an individual with FTC who was negative for GALNT3 mutations. Sequencing revealed a homozygous missense mutation in the FGF23 gene (p.S71G) at an amino acid position which is conserved from fish to man. Wild-type FGF23 is secreted as intact protein and processed N-terminal and C-terminal fragments. Expression of the mutated protein in HEK293 cells showed that only the C-terminal fragment is secreted, whereas the intact protein is retained in the Golgi complex. In addition, determination of circulating FGF23 in the affected individual showed a marked increase in the C-terminal fragment. These results suggest that the FGF23 function is decreased by absent or extremely reduced secretion of intact FGF23. We conclude that FGF23 mutations in hypophosphatemic rickets and FTC have opposite effects on phosphate homeostasis.

Amino Acid Sequence↗
PubMedDate not supplied

Case report. Tumoral calcinosis: an unusual complication of the laxative abuse syndrome.

A 47-year-old woman who abused laxatives as a means of weight control is described. Her laxative abuse resulted in an episode of tetany for which she was given long-term calcium and vitamin D therapy. This therapy, along with the ingestion of absorbable phosphate and alkali, and large amounts of milk, led to the development of tumoral calcinosis. The failure to fully appreciate the contribution of laxative abuse in her metabolic imbalance resulted in this complication.

Calcinosis↗
PubMed2002

Imaging of bilateral striopallidodentate calcinosis.

Bilateral symmetric striopallidodentate calcinosis, also known as Fahr's disease, is characterized by bilateral calcifications of the basal ganglia, thalami, dentate nuclei of the cerebellum, and the white matter of the cerebral hemisphere. Intracranial calcifications are easily visible as high-density areas on computed tomographic images. On magnetic resonance images, the calcifications exhibit different signal intensities. The differences in signal intensity are thought to be related to the stage of the disease, differences in calcium metabolism, and the volume of the calcium deposit. The moderate reduction of cerebral blood flow in bilateral thalami was also identified using brain SPECT.

Aged↗
PubMed1995

Tumoral calcinosis after thumb tip injury: case report.

Tumoral calcinosis, developed in a 44-year-old male patient after a left thumb tip injury that was initially treated with a wraparound procedure, was excised. Five years after excision, there was no recurrence, and the thumb remained well-functioning.

Adult↗
PubMedDate not supplied

A case of massive dystrophic cardiac calcinosis with increased bone resorption markers: a novel pathophysiologic link?

We report a 72-year-old man who presented to our emergency room with congestive heart failure that was resistant to initial medical therapy. He had suffered from anterior myocardial infarction 20 years prior. Echocardiography and computed tomography revealed marked cardiac calcification including myocardium, chordal structures, mitral annulus, and aortic valve. Neither chronic renal insufficiency nor hypercalcemia were present in our patient. Bone resorption markers were increased and bone mineral density was consistent with severe osteoporosis. We suggested a novel mechanism, that increased bone resorption may lead to accumulation of calcium into avascular tissues in the heart (ie, chordal structures, mitral annulus, aortic valve, and fibronecrotic myocardium) especially in the setting of high left ventricular end-diastolic pressure. Dystrophic cardiac calcinosis, an age-related cardiomyopathy, is associated with elevated bone resorption markers and it may cause alterations in cellular calcium hemostasis with initiation of deleterious events leading to aggravate dilated and restrictive cardiomyopathy and may result in intractable congestive heart failure. The implication of this case report needs to be reemphasized.

Aged↗
PubMed2005

Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis.

Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disorder characterized by progressive, tumor-like calcifications in the dermis and subcutaneous tissues. The disease is associated with primary hyperphosphatemia due to increased renal tubular reabsorption of phosphate. We recently identified mutations in GALNT3 as the proximal cause of this metabolic disorder. GALNT3 encodes the glycosyltransferase UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyl-transferase 3 (ppGalNAc-T3), which initiates mucin-type O-glycosylation and thus takes part in posttranslational modification and formation of mucin-type glycoproteins. A number of studies have previously described the histopathological and ultrastructural features of lesional skin in HFTC, but little is currently known about the morphology of the normal-appearing non-lesional skin. We obtained biopsies of uninvolved skin from two HFTC patients carrying a known splice site mutation in GALNT3. Light and electron microscopic examination of a biopsy of one of the two patients did not reveal abnormal findings in the epidermis or dermis. However, immunohistochemical studies of frozen skin sections of biopsies of the two patients using monoclonal antibodies directed against three ppGalNac isoforms revealed the complete absence of immunostaining for ppGalNAc-T3 while the staining pattern for ppGalNAc-T2 and -T6 was identical in skin biopsies obtained from HFTC patients and healthy control individuals. Our data provide for the first time evidence for ppGalNAc-T3 deficiency in the skin of HFTC patients and suggest that immunostaining of skin biopsy samples for ppGal-Nac-T3 might be a useful tool for the diagnosis of HFTC.

Calcinosis↗