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PubMed1991

Dental lesions in tumoral calcinosis.

Tumoral calcinosis (TC) is a rare inherited autosomal dominant metabolic disease manifested by elevated serum phosphorus and 1,25 dihydroxyvitamin D levels and periarticular cystic and solid tumorous calcifications. The dental findings in a large family have been critical in determining the genetic transmission of the condition. Radiographically the teeth have short bulbous roots, pulp stones and partial obliteration of the pulp cavity. Histologically, coronal dentin and a variable amount of radicular dentin appears to be deposited regularly. At nonspecific points the developing radicular dentin appears to encounter a mass of calcified material and proceed to grow around it. This mass has a unique histologic pattern with ovoid spaces surrounded by amorphous calcification. At levels of further root development the radicular dentin has an irregular bending tubule arrangement. The dental lesion of TC appears to be different from that of radicular dentin dysplasia in histologic structure and in the method of initiation of the dentin defect. These data suggest that the specific dental lesion is a new phenotypic marker for TC.

Adolescent↗
PubMed2006

[Dystrophic calcinosis cutis after subcutaneous administration of para-aminosalicylic acid for treatment of pulmonary tuberculosis].

An 81-year-old women presented with monstrous subcutaneous mobile masses on the ventral and ventrolateral surfaces of her thighs. Radiography as well as computer tomography showed extensive soft tissue calcifications. We interpreted these alterations as dystrophic calcinosis cutis, most likely resulting from repeated subcutaneous PAS infusions for the treatment of pulmonary tuberculosis.

Aged, 80 and over↗
PubMed1991

Tumoral calcinosis.

Tumoral calcinosis is a rare entity of unknown etiology. In this condition nodular calcareous masses are deposited in the soft tissues around juxtaarticular areas. It occurs in young healthy subjects with normocalcemia. Hyperphosphatemia is only rarely present.

Calcinosis↗
PubMed1979

Extensive soft tissue calcification (calcinosis universalis) in systemic lupus erythematosus.

A 21-year-old woman with long-standing systemic lupus erythematosus developed extensive calcification of the soft tissues of the thoracic and abdominal walls and extremities early in her illness, and these calcifications gradually disappeared over the course of her disease. The extent of this calcinosis and apparent spontaneous regression are unusual events in systemic lupus erythematosus.

Adult↗
PubMed1985

Calcinosis of joints and periarticular tissues associated with vitamin D intoxication.

We describe a patient with rheumatoid arthritis and widespread joint and periarticular calcinosis related to self-medication with vitamin D, which was aggravated by oral phosphate therapy prescribed for her hypercalcaemia. Hydroxyapatite was shown in the synovial fluid from affected joints. The role played by tissue injury in the pathogenesis of soft tissue calcification is discussed.

Calcinosis↗
PubMed1969

Tumoral calcinosis--an unrecognized disease.

Twenty-six cases of tumoral calcinosis are reported from Kenya. The disease, frequently misdiagnosed, is of unknown origin. It presents as calcified tumours, usually around the hips and buttocks, in muscle and subcutaneous tissue. The tumours are partly solid, partly multiloculated cysts which contain a chalky fluid. They may grow rapidly or very slowly, and are found in children and adults. Both sexes are affected and there is no obvious tribal or geographical localization.

Adolescent↗
PubMed2006

Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family.

BACKGROUND: Familial tumoral calcinosis (FTC) is a rare autosomal recessive disease characterised by the development of multiple calcified masses in periarticular soft tissues; GALNT3 gene mutations have recently been described in an African American and in a Druse Arab family with FTC. OBJECTIVE: To report the clinical and histological features caused by a new GALNT3 mutation in a white family. RESULTS: Homozygosity for the nonsense mutation Lys463X was found in both affected siblings, who displayed a classic phenotype, the male also having testicular microlithiasis. He is the first subject described with testicular microlithiasis in FTC. CONCLUSIONS: The high testicular expression of GALNT3 suggests that the gene alteration could act locally by causing deposition of calcium, and the testis may be an underestimated site of calcification in FTC. Autoimmune diseases are present in several members of the family. Although immune disorders have been described in FTC, autoimmunity does not segregate with the GALNT3 mutation in this family.

Autoimmune Diseases↗
PubMed1977

Pulmonary calcinosis.

The clinical and pathological features are described of a case of pulmonary calcinosis complicating cystic disease of the renal medulla. A histopathological study of the lung revealed calcification in the alveolar walls and in the blood vessels, predominantly in the pulmonary veins and venules. The calcified deposits were also studied by electron microscopy, and appearances suggestive of active growth of the deposits were recognised. Chemical analysis of the lung revealed a calcium content some 55 times greater than that of a normal lung. There was a five-fold increase in magnesium content. Reference is made to the literature demonstrating that the chemical composition of metastic calcification differs according to whether it is visceral or non-visceral in type.

Adult↗
PubMed1977

Enzootic calcinosis in sheep and C-cells hyperplasia of the thyroid.

In nine sheep belonging to the same flock, C-cells hyperplasia of the thyroid, associated with calcinosis of the soft tissues is reported. The C-cells hyperplasia was probably due to excessive feeding with poultry waste, rich in calcium. The soft tissue mineralisation was a result of hypersecretion of calcitonin, a blood calcium-lowering hormone of the C-cells.

Animals↗
PubMed1992

Thoracic spinal calcinosis circumscripta causing cord compression in two German shepherd dog littermates.

Two young German shepherd dog littermates had progressive, painless, hindlimb ataxia. In both dogs plain radiography of the vertebral column revealed a solitary mineralised lesion on the dorsal laminae between the dorsal spines of the second and third thoracic vertebrae, and myelography with iopamidol demonstrated cord compression at the level of the lesions. The first dog died 18 hours after the myelography. A dorsal laminectomy performed in the second dog resulted in neurological improvement. A histopathological examination confirmed that both lesions were calcinosis circumscripta. The cause of the death of the first dog was meningitis.

Animals↗
PubMed2001

New Dyscalc loci for myocardial cell necrosis and calcification (dystrophic cardiac calcinosis) in mice.

Dystrophic cardiac calcinosis (DCC) occurs among certain inbred strains of mice and involves necrosis and subsequent calcification as response of myocardial tissue to injury. Using a complete linkage map approach, we investigated the genetics of DCC in an F(2) intercross of resistant C57BL/6J and susceptible C3H/HeJ inbred strains and identified previously a major predisposing quantitative trait locus (QTL), Dyscalc1, on proximal chromosome 7. Analysis of inheritance suggested, however, that DCC is influenced by additional modifier QTL, which have as yet not been mapped. Here, we report the identification by composite interval mapping of the DCC loci Dyscalc2, Dyscalc3, and Dyscalc4 on chromosomes 4, 12 and 14, respectively. Together, the four Dyscalc loci explained 47% of the phenotypic variance of DCC, which was induced by a high-fat diet. Additive epistasis between Dyscalc1 and Dyscalc2 enhanced DCC. Examining recombinant inbred strains, we propose a 10-cM interval containing Dyscalc1 and discuss potential candidate genes.

Animals↗
PubMed1983

Progressive idiopathic strio-pallido-dentate calcinosis (Fahr's disease) with autosomal recessive inheritance. Report of three siblings.

3 siblings with symmetrical calcifications in the strio-pallido-dentate system are described. Parathyroid function was normal and there were no signs of central or peripheral myelinopathy. This is the 9th family reported with autosomal recessive idiopathic strio-pallido-dentate calcinosis and the first to be investigated by computerized tomography (CT). CT scans appeared to be superior to plain skull radiograms to assess the localization and the extent of the calcifications in vivo. The calcifications were the least extensive in the youngest and the most extensive in the eldest. It is suggested that the calcifying process is a progressive disorder. It seems to start in the dentate nuclei and pons, and subsequently extends to the basal ganglia and to the radiation of the corpus callosum.

Adult↗
PubMed1990

Cutaneous necrosis and calcinosis following electroencephalography.

The authors report 2 children who developed circumscribed dystrophic calcifications at the site of electrode placement after electroencephalographic examination. Deep cutaneous necrosis was a prominent clinical feature. A biopsy showed focal dermal calcification confirmed by a diffractometer analysis of a calcific granule. Cutaneous calcinosis is a possible risk of the usage of an electrode paste containing calcium chloride. Prolonged exposure and damaged skin seem to be prerequisites for this uncommon but harmful condition.

Calcinosis↗
PubMed1987

Idiopathic calcinosis of scrotum.

A case of idiopathic calcinosis of the scrotum is presented. This term has been applied to an uncommon disorder characterized by solitary or multiple, firm painless papules or nodules of the scrotum that usually appear during childhood or early adult life. The lesions are skin colored to white-yellow, increase in size and number, may itch or drain a chalky white material. X-ray film reveals calcified shadows. Biopsy specimens of the lesions show masses of calcium deposits in the dermis without evidence of an epithelial lining.

Aged↗
PubMed1988

High mortality with severe dystrophic cardiac calcinosis in C3H/OUJ mice fed high fat purified diets.

Severe degenerative myocardial disease occurred in female C3H/OUJ mice fed purified diets for 36 weeks; the diet contained 5% or 20% fat as non-hydrogenated soybean oil. Deaths of lactating females of this group (17/35 high fat diet and 7/35 low fat diet animals) were due to sudden cardiovascular collapse. Cardiomegaly with marked atrial and ventricular myocardial mineralization was seen at necropsy. Histologically, the random, myopathic foci were characterized by severe myocardial degeneration, mineralization, and fibrosis. Mural thrombosis, pulmonary arteriosclerosis, and mild myocardial inflammatory cell infiltrates were also present. Pathological changes were similar to those of dystrophic cardiac calcinosis, an incidental necropsy finding in certain mouse strains.

Animals↗
PubMed2005

Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed.

Familial tumoral calcinosis (TC, OMIM 211900) is a heritable disorder characterized by hyperphosphatemia, normal or elevated serum 1,25-dihydroxyvitamin D, and often severe ectopic calcifications. Two recessive mutations in fibroblast growth factor-23 (FGF23), serine 71/glycine (S71G) and serine 129/phenylalanine (S129F), were identified as causing TC. Herein, we undertook comprehensive biochemical analyses of an extended TC family carrying the S71G FGF23 mutation, which revealed that heterozygous (serine/glycine, S/G) individuals had elevated serum FGF23 C-terminal fragments compared with wild-type (serine/serine, S/S) family members (P < 0.025). To understand the differential processing of FGF23 in TC patients, we transiently expressed S71G as well as S129F FGF23. FGF23 ELISA in tandem with Western analyses revealed increased proteolytic cleavage of mutant FGF23 and a limited secretion of intact protein. Furthermore, S71G and S129F FGF23 carrying mutations that disrupt the furin-like protease RXXR motif in FGF23 rescued the secretion of the intact protein, and both TC mutant proteins harboring the R176Q mutation revealed no altered sensitivity to trypsin compared with the native (R176Q)FGF23. Finally, S71G, but not S129F mutant FGF23, is rescued by temperature. In summary, FGF23 mutations causing TC lead to increased intracellular proteolysis of FGF23, most likely by furin-like proteases, due to conformational changes of the mutant protein. The destabilizing nature of these mutations provides new insight into the pathophysiology of TC and exemplifies the physiological importance of FGF23 in phosphate and vitamin D metabolism.

Calcinosis↗
PubMed2005

A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis.

Gain-of-function mutations in fibroblast growth factor-23 (FGF23) are responsible for autosomal dominant hypophosphatemic rickets, a disorder of isolated renal phosphate wasting. Patients with the disorder display hypophosphatemia with normocalcemia as well as inappropriately normal 1,25-dihydroxyvitamin D [1,25(OH)2D3] concentrations. Reciprocally tumoral calcinosis (TC) patients are often hyperphosphatemic with inappropriately normal or elevated serum 1,25(OH)2D3 levels and have ectopic and vascular calcifications, a phenotype similar to that of Fgf23 null mice. Therefore, the goal of the present studies was to test whether FGF23 was a candidate gene for TC. Two sisters in a consanguineous TC family had hyperphosphatemia and normal 1,25(OH)2D3 levels with characteristic ectopic and vascular calcifications. Interestingly, these patients had low-normal intact serum FGF23 levels but demonstrated FGF23 concentrations approximately 40 times normal when assessed with a C-terminal FGF23 serum assay. Mutational analyses identified a homozygous S71G mutation in FGF23 in the TC patients, which was not found in control alleles. Finally, modeling demonstrated that the S71G mutation most likely destabilizes full-length FGF23. In summary, recessive FGF23 mutations can lead to TC. Additionally, our findings indicate that FGF23 may adopt an unstable conformation in some TC patients, possibly leading to nonfunctional FGF23 protein.

Adult↗
PubMed2005

A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.

CONTEXT: Mutations in the lamin A/C (LMNA) gene have been reported in a wide variety of disorders, including lipodystrophies, cardiomyopathy, muscular dystrophies, neuropathy, mandibuloacral dysplasia, restrictive dermopathy, and progeria. OBJECTIVE: The objective of this study was to carry out mutational analysis of LMNA in a patient with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. DESIGN: The study design was a descriptive case report. SETTING: The study was performed at a referral center. PATIENT: A 44-yr-old male of European descent with an autosomal recessive arthropathy syndrome affecting predominantly the distal femora and proximal tibia in the knee with tendinous calcifications was studied. He also had progeroid features, such as pinched nose and micrognathia, cataract, alopecia, generalized lipodystrophy, and sclerodermatous skin. MAIN OUTCOME MEASURES: The main outcome measures were mutational analysis of lamin A/C (LMNA) and its processing enzyme, zinc metalloproteinase (ZMPSTE24), as candidate genes. RESULTS: We found a homozygous nucleotide substitution, 1718C>T, in exon 11 of the LMNA gene, resulting in substitution of a well-conserved residue serine at position 573 with leucine (S573L). This missense mutation only affects lamin A, not lamin C, because the alternative splicing site is located in exon 10. Immunofluorescence staining of the nuclei from his skin fibroblasts showed occasional misshapen morphology. CONCLUSIONS: The S573L homozygous LMNA mutation is associated with a novel phenotype of arthropathy, tendinous calcifications, and progeroid features distinct from the acroosteolysis previously reported in patients with mandibuloacral dysplasia caused by LMNA or ZMPSTE24 mutations. Thus, arthropathy with tendinous calcifications can be added to the growing list of disorders associated with LMNA mutations.

Adult↗