Tumoral Calcinosis Research Articles

Differential diagnosis of T2 hypointense masses in musculoskeletal MRI.

Many soft tissue masses have an indeterminate appearance on MRI, often displaying varying degrees and extent of T2 hyperintensity. However, a subset of neoplasms and tumor-like lesions may exhibit prominent areas of T2 hypointensity relative to skeletal muscle. The hypointensity observed on T2-weighted MRI can be caused by a variety of substances, including evolving blood products, calcifications or other inorganic crystals, or fibrous tissue. Carefully evaluating the presence and pattern of T2 hypointensity in soft tissue masses and considering potential causes in their associated clinical contexts can help to narrow the differential diagnosis among neoplastic and non-neoplastic possibilities. These include endometriosis, aneurysmal bone cysts, tenosynovial giant cell tumor, arteriovenous malformation and pseudoaneurysm, calcium pyrophosphate and hydroxyapatite deposition diseases, tumoral calcinosis, gout, amyloidosis, hemangiomas with phleboliths, low-grade fibromyxoid sarcoma, ossifying fibromyxoid tumor, collagenous fibroma, desmoid-type fibromatosis, myxofibrosarcoma, peripheral nerve sheath tumors, dedifferentiated liposarcoma, and treated sarcoma.

Uremic tumoral calcinosis: A case report.

Uremic tumoral calcinosis: A case report.

Hyperphosphatemic Tumoral Calcinosis: A Classical Clinico-Radio-Scintigraphic Presentation.

Tumoral calcinosis is a rare entity presenting with periarticular calcium deposits, leading to multiple swellings and biochemical hyperphosphatemia and normocalcemia. Skeletal scintigraphy in these cases is helpful by providing a whole-body survey and delineating the common multifocality of this entity. We present the case of a 16-year-old boy with multiple swellings around the knee and elbow joints, having developed over 4 years and diagnosed as tumor calcinosis.

Hyperparathyroidism Tumoral calcinosis: A case report

Tumoral calcinosis (TC) is a rare locally aggressive lesion characterised by extra-articular soft tissue deposition of the calcium phosphate around large joints & small joints. The exact aetiology is not known. A 11–year–old female presented with a painful progressive swelling around the medial aspect of 1st metatarsal right foot over a 6–month duration. Routine laboratory results showed a normal haemogram, and normal calcium and high phosphate levels & para thyroid level. Imaging showed a soft tissue calcified mass around 1st metatarsal medial aspect of right foot. The cut surface of the excised mass showed myxoid material with areas of calcification. On microscopy, there were typical features of Tumoral calcinosis.

A Case of Tumoral Calcinosis in the Left and Right Iliac Region

A Case of Tumoral Calcinosis in the Left and Right Iliac Region

Beneficial Response to Phosphate Lowering Therapy in Normophosphatemic Tumoral Calcinosis

Beneficial Response to Phosphate Lowering Therapy in Normophosphatemic Tumoral Calcinosis

PTH and FGF23 Exert Interdependent Effects on Renal Phosphate Handling: Evidence From Patients With Hypoparathyroidism and Hyperphosphatemic Familial Tumoral Calcinosis Treated With Synthetic Human PTH 1-34.

Parathyroid hormone (PTH) and fibroblast growth factor 23 (FGF23) both influence blood phosphate levels by regulating urinary phosphate reabsorption. Clinical data suggest that adequate renal phosphate handling requires the presence of both FGF23 and PTH, but robust evidence is lacking. To investigate whether the phosphaturic effects of PTH and FGF23 are interdependent, 11 patients with hypoparathyroidism, which features high blood phosphate in spite of concomitant FGF23 elevation, and 1 patient with hyperphosphatemic familial tumoral calcinosis (HFTC), characterized by deficient intact FGF23 action and resulting hyperphosphatemia, were treated with synthetic human PTH 1-34 (hPTH 1-34). Biochemical parameters, including blood phosphate, calcium, intact FGF23 (iFGF23), nephrogenic cAMP, 1,25(OH)2 vitamin D (1,25D), and tubular reabsorption of phosphate (TRP), were measured at baseline and after hPTH 1-34 treatment. In patients with hypoparathyroidism, administration of hPTH 1-34 increased nephrogenic cAMP, which resulted in serum phosphate normalization followed by a significant decrease in iFGF23. TRP initially decreased and returned to baseline. In the patient with HFTC, hPTH 1-34 administration also increased nephrogenic cAMP, but this did not produce changes in phosphate or TRP. No changes in calcium were observed in any of the studied patients, although prolonged hPTH 1-34 treatment did induce supraphysiologic 1,25D levels in the patient with HFTC. Our results indicate that PTH and FGF23 effects on phosphate regulation are interdependent and both are required to adequately regulate renal phosphate handling. Published 2021. This article is a U.S. Government work and is in the public domain in the USA.

A novel homozygous variant in exon 10 of the GALNT3 gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India.

Hyperphosphatemic familial tumoral calcinosis (HFTC) is an extremely rare autosomal recessive disorder caused by variants in the GALNT3 (N-acetylgalactosaminyltransferase 3), FGF23 (Fibroblast Growth Factor-23) and αKL (α-Klotho) genes, which results in progressive calcification of soft tissues. We describe the case of a 9-year-old girl who presented with recurrent hard nodular swellings on her feet and knees which intermittently discharged chalky white material. Her younger brother also had a similar condition. Both siblings showed hyperphosphatemia, but the parentsbiochemical parameters were normal. The histological features of the material aspirated from a skin lesion were consistent with tumoral calcinosis. Sanger sequencing identified a novel homozygous non-synonymous sequence variant in exon 10 of the GALNT3 gene (NM_004482.3:c.[1681T>A];[1681T>A], NP_004473.2:p. [Cys561Ser];[Cys561Ser] in the proband and her affected brother. The parents were heterozygous carriers for the same sequence variant. In conclusion, we report a new variant in the GALNT3 gene that caused HFTC in a North Indian family.

Selective pharmacological inhibition of the sodium-dependent phosphate cotransporter NPT2a promotes phosphate excretion.

The sodium-phosphate cotransporter NPT2a plays a key role in the reabsorption of filtered phosphate in proximal renal tubules, thereby critically contributing to phosphate homeostasis. Inadequate urinary phosphate excretion can lead to severe hyperphosphatemia as in tumoral calcinosis and chronic kidney disease (CKD). Pharmacological inhibition of NPT2a may therefore represent an attractive approach for treating hyperphosphatemic conditions. The NPT2a-selective small-molecule inhibitor PF-06869206 was previously shown to reduce phosphate uptake in human proximal tubular cells in vitro. Here, we investigated the acute and chronic effects of the inhibitor in rodents and report that administration of PF-06869206 was well tolerated and elicited a dose-dependent increase in fractional phosphate excretion. This phosphaturic effect lowered plasma phosphate levels in WT mice and in rats with CKD due to subtotal nephrectomy. PF-06869206 had no effect on Npt2a-null mice, but promoted phosphate excretion and reduced phosphate levels in normophophatemic mice lacking Npt2c and in hyperphosphatemic mice lacking Fgf23 or Galnt3. In CKD rats, once-daily administration of PF-06869206 for 8 weeks induced an unabated acute phosphaturic and hypophosphatemic effect, but had no statistically significant effect on FGF23 or PTH levels. Selective pharmacological inhibition of NPT2a thus holds promise as a therapeutic option for genetic and acquired hyperphosphatemic disorders.

Tumoral calcinosis: a case report of an exceptionally large lesion and review of literature

Tumoral calcinosis: a case report of an exceptionally large lesion and review of literature

Clinical characteristics of 10 patients with uremic tumoral calcinosis

Objective: To analyze the clinical characteristics of patients with uremic tumoral calcinosis (UTC). Methods: A total of 10 patients with UTC were enrolled in this study, who were admitted in the Department of Nephrology, China-Japan Friendship Hospital and Beijing Chuiyangliu Hospital from March 2013 to February 2019. Results: The average age of 4 male and 6 female patients on regular hemodialysis was (39.90±8.57) years. The average dialysis duration was(5.90±2.57) years. Three patients presented as single lesion of one joint, the other 7 patients as involvement of multiple large joints. Serum calcium was elevated in 2 patients,both over 2.75 mmol/L. Serum hyperphosphatemia was seen in all patients with average level 2.22 (1.94,2.44) mmol/L. Serum intact parathyroid hormone (iPTH) was remarkably increased in 9 patients with average level 1 348.0(854.8,1 800.0) ng/L, while only 1 patient reported slight elevation (92.4 ng/L).High-sensitivity C-reactive protein increased in all 10 patients with average 35.81 (17.60,74.20) mg/L. The imaging findings before treatment suggested that a large number of irregular masses of calcification shadows deposited in the soft tissue adjacent to the joints. The outlines of calcification were clear without significant bone absorption. Nine patients with severe secondary hyperparathyroidism (SHPT) were treated with parathyroidectomy, resulting in lesions diminishing or even disappearing. A total of 32 parathyroid glands were resected, and pathological results showed that 7 parathyroids were diffuse hyperplasia, 11 as diffuse/nodular hyperplasia, the rest 14 as nodular hyperplasia. At least one hyperplastic parathyroid gland was seen in each patient. Only 1 patient received medical therapy yet no obvious improvement was observed. Conclusion: UTC is a rare complication in patients on regular hemodialysis, which is usually associated with severe SHPT. Parathyroid surgery may improve the clinical outcome.

Treatment of Uremic Tumoral Calcinosis in Maintenance Hemodialysis Patients

Treatment of Uremic Tumoral Calcinosis in Maintenance Hemodialysis Patients

Tumorous congenital calcinosis cutis associated with early childhood epileptic encephalopathy with a pathogenic FGF12 gene variant.

Calcinosis cutis is the deposit of insoluble calcium salts in the skin. It is classified according to its pathogenesis in dystrophic, metastatic, idiopathic, iatrogenic, and calciphylaxis. Idiopathic calcinosis is asymptomatic, occurs in healthy patients, and includes scrotal calcinosis, Winer's nodular calcinosis or subepidermal calcified nodules, and familial tumor calcinosis. The latter is a rare condition characterized by periarticular calcium deposition in normocalcemic patients with no bone connection. The case of a 5-month-old male patient, who on the seventh day of life was hospitalized for multifactorial jaundice, late neonatal sepsis, and apnea with epileptic seizures is described. His evolution was torpid, with hospital admissions due to epileptic seizures that were difficult to manage with partial response to the use of diphenylhydantoin and electrolyte alterations. By means of exome sequencing directed, a pathogenic variant of wrong direction in FGF12 was detected and the diagnosis of early epileptic encephalopathy number 47 was confirmed. Also, the patient showed disseminated congenital dermatosis to lower extremities affecting thighs, asymptomatic, bilateral and symmetrical, constituted by hypopigmentation and fovea hard to deep palpation. The biopsy showed dystrophic calcification. The case of an infant with deep congenital cutis calcinosis associated with a pathogenic variant in the FGF12 gene with epileptic encephalopathy is described. To date, this clinical situation has not been previously reported in the literature.

Tumoral Calcinosis: Case Report and Review

AbstractTumoral calcinosis (TC) is an uncommon disorder characterized by the deposition of calcium phosphate in periarticular tissues. TC has been a controversial clinico-pathological entity first described in 1943. The calcium deposits are usually present in the large joints such as the hips and shoulders. Patients often present with localized swelling and reduced mobility around the involved joints which interfere with activities of daily living. A 12-year-old boy presented at our clinic with a painful swelling around his left elbow joint with 6-month duration over which the swellings progressively increased. Radiological imaging identified a soft tissue calcified mass present around both elbow joints. Excision and biopsy of the left elbow demonstrated a tumor consisting of myxoid material with multiple areas of calcification with a well-defined capsule. Microscopy confirmed typical features of TC. We present our case report due to unusual clinical presentation noted in this case.

Tumoral calcinosis, a diagnostic dilemma: a case report

Tumoral calcinosis is a rare diagnosis characterized by deposition of calcium salts in peri-articular soft tissue regions. It is divided into primary and secondary varieties. The primary tumoral calcinosis is further divided into two types; primary hyperphosphatemic type and primary normophosphatemic type. The secondary variety occurs in association with chronic renal failure. Biochemical assessment and typical radiographic features help in diagnosis. Mainstay of treatment for primary variety is surgical. Secondary variety is mainly treated by medical measures. Surgical intervention is reserved for patients who do not respond to medical therapy.

A case report: renal cystic tumoural calcinosis with ossification and bone marrow formation

BackgroundTumoural calcinosis (TC) is a rare disorder characterized by nonneoplastic amorphous calcium deposition that tends to occur in soft tissues around the large joint. Here, we report a case of cystic TC with ossification and bone marrow formation in the kidney.Case presentationWe report a 63-year-old woman who presented with a complaint of intermittent right lumbar pain for 2 months. Computed tomography (CT) revealed a large cystic lesion on the lateral side of the right kidney, with a circular calcified wall around the lesion, which compressed, deformed and displaced the right kidney. To relieve the symptoms of right lumbar pain, the patient underwent surgical resection of this cystic lesion without partial removal of the renal parenchyma. The pathological results further confirmed the diagnosis of cystic TC with ossification and bone marrow formation in the right kidney. No recurrence was detected 1 year after surgery.ConclusionsThe main differential diagnoses of TC in the kidney are kidney stone, renal tuberculosis, renal cyst with a calcified wall, and tumour. Patients are treated mainly by complete surgical resection of the lesion.

Secondary Tumoral Calcinosis of the Larynx.

Secondary Tumoral Calcinosis of the Larynx.

Pseudotumoral Calcinosis: A Soft Tissue Tumor in a 14-Year-Old Male

Pseudotumoral calcinosis is a rare benign tumor, characterized by deep calcium deposition in peri-articular soft tissues. A numerous list of calcium deposit diseases exists making the calcinosis diagnosis very challenging. There are three principal forms or etiologies; primary or idiopathic forms followed by secondary forms due to chronic renal failure or hyperparathyroidism, then genetic forms such as Hyperphosphatemic Familial Tumoral Calcinosis (HFTC). We report a case of 14-year-old boy with primary tumoral calcinosis of the right hip. Total mass resection was performed without any recurrence at one-year follow-up.

Hyperphosphatemic Tumoral Calcinosis: Pathogenesis, Clinical Presentation, and Challenges in Management.

Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare and disabling disorder of fibroblast growth factor 23 (FGF23) deficiency or resistance. The disorder is manifest by hyperphosphatemia, inappropriately increased tubular reabsorption of phosphate and 1,25-dihydroxy-Vitamin D, and ectopic calcifications. HFTC has been associated with autosomal recessive pathogenic variants in: (1) the gene encoding FGF23; (2) GALNT3, which encodes a protein responsible for FGF23 glycosylation; and (3) KL, the gene encoding KLOTHO, a critical co-receptor for FGF23 signaling. An acquired autoimmune form of hyperphosphatemic tumoral calcinosis has also been reported. Periarticular tumoral calcinosis is the primary cause of disability in HFTC, leading to pain, reduced range-of-motion, and impaired physical function. Inflammatory disease is also prominent, including diaphysitis with cortical hyperostosis. Multiple treatment strategies have attempted to manage blood phosphate, reduce pain and inflammation, and address calcifications and their complications. Unfortunately, efficacy data are limited to case reports and small cohorts, and no clearly effective therapies have been identified. The purpose of this review is to provide a background on pathogenesis and clinical presentation in HFTC, discuss current approaches to clinical management, and outline critical areas of need for future research.

MON-368 A Case of Uremic Tumoral Calcinosis with Secondary Hyperparathyroidism

Background: Uremic tumoral calcinosis is an uncommon clinical entity that can be seen in patients with end-stage renal disease, characterized by development of calcific deposits in the soft tissue. This condition can cause significant pain and impairment of mobility for patients. While it appears that elevation in calcium-phosphate product and hyperparathyroidism may each play a role in the development of these deposits, these conditions are neither necessary nor sufficient for this process to occur. As a result, the optimal treatment of this condition is not well-established. Case: A 50-year-old man with history of ESRD since 2015 secondary to autosomal dominant polycystic kidney disease on peritoneal dialysis, HTN, and secondary hyperparathyroidism presented to the emergency room with progressive right lateral hip pain, reaching the point where the patient could no longer ambulate. Exam demonstrated a thin man whose right hip was tender to palpation with limited range of motion, as well as a palpable, deep right upper leg mass. Laboratory findings were significant for a creatinine of 14.83mg/dL (n <1.5mg/dL), calcium of 9.1 mg/dL (n 8.5-10.5mg/dL), phosphate of 7.9mg/dL (n 2.5-4.5mg/dL), intact PTH of 1129pg/mL (n 15-65pg/mL), and 25-OH Vit D of 20.4ng/mL (n>30ng/mL). X-ray of the right femur demonstrated a 9cm calcified soft tissue lesion, which was not present on imaging 7 months earlier. Subsequent CT of the pelvis showed a cystic, multilobulated calcified mass in the right gluteus, measuring 6.1 x 3.5 x 7.5cm, consistent with tumoral calcinosis. Attempts to normalize his serum phosphorous level using treatment with phosphate binders or changes to his dialysate had failed previously, and the patient declined transitioning to hemodialysis. Nuclear medicine parathyroid scan demonstrated four-gland hyperplasia, and the decision was made to perform 3.5 gland parathyroidectomy. Two days post-operatively calcium had dropped to 7.7 mg/dL, phosphate to 6.8mg/dL, and intact PTH to 29pg/mL. Conclusions: Uremic tumoral calcinosis is a very rare but potentially debilitating consequence of end-stage renal disease that can be significantly detrimental to quality of life in patients with ESRD. Elevated calcium-phosphate product is frequently implicated in its development, and evidence exists that lowering these levels can lead to complete resolution of these lesions. However, in patients for whom medical therapy is not effective and who have concomitant secondary hyperparathyroidism, subtotal parathyroidectomy is a reasonable treatment option.