Tumoral calcinosis on thigh in a hemodialysis patient and literature review / 中华肾脏病杂志

The paper reported a patient under maintained hemodialysis for 11 years, with a large mass appeared in the right thigh after local injury. The mass was clinically considered as tumoral calcinosis combined with clinical, imaging and pathological findings. Several treatments such as enhancing dialysis adequacy, low calcium dialysate, calcimimetic agent, non-calcium- phosphorus binding agents, parathyroidectomy and intravenous infusion of sodium thiosulfate could not vanish the mass. Finally, the lump was surgically removed. The treatment of tumoral calcinosis in the hemodialysis patient can provide a instruction for similar situations in clinical practice.

Incidental findings involving the temporomandibular joint on computed tomography and magnetic resonance imaging

The temporomandibular joint (TMJ) is frequently imaged in head and neck computed tomography (CT) and magnetic resonance imaging (MRI) studies. Depending on the indication for the study, an abnormality of the TMJ may be an incidental finding. These findings encompass both intra- and extra-articular disorders. They may also be related to local, regional or systemic conditions. Familiarity with these findings along with pertinent clinical information helps narrow the list of differential diagnoses. While definitive diagnosis may not be immediately apparent, a systematic approach contributes to improved discussions between clinicians and radiologists and better patient management.

Research progress in genetic susceptibility genes and related pathogenic factors and treatment of neoplastic calcinosis / 国际生物医学工程杂志

Tumor calcinosis(TC) has different clinical and biochemical patterns. The existence of chronic injury as well as calcium and phosphorus metabolism disorder has been gradually proved to be the important link in the occurrence of TC. In this paper, the related basic diseases with the pathophysiological mechanism of calcium and phosphorus metabolism disorder were reviewed, and the pathophysiological mechanism of phosphate metabolism disorder in various diseases was summarized.In addition, the phosphate homeostasis genes including GALNT-3, FGF-23 and α-KLOTHO were described. The relevant research results have showed that mutations in any of these three genes will lead to defects in the synthesis or action of FGF-23, which will increase the reabsorption of phosphate by renal tubules, resulting in hyperphosphatemia and severe ectopic calcification of soft tissue.At present, surgical resection is still the main treatment of TC. New technologies such as cinalcet peritoneal dialysis, ultrasound-guided aspiration of TC lesions and local injection of sodium thiosulfate (STS), as well as the successful application of lanthanum carbonate and other drugs, provide alternatives to TC treatment.In this paper, the research literatures on TC at home and abroad in recent years were introduced and the genetic susceptibility genes, related pathogenic factors and the latest treatment progress of TC were reviewed.

Calcinosis cutis congénita tumoral asociada con encefalopatía epiléptica infantil temprana con variante patogénica en el gen FGF12 / Tumorous congenital calcinosis cutis associated with early childhood epileptic encephalopathy with a pathogenic FGF12 gene variant

Resumen Introducción: La calcinosis cutis es el depósito de sales insolubles de calcio en la piel y se clasifica, de acuerdo con su patogénesis, en distrófica, metastásica, idiopática, iatrogénica y calcifilaxis. La calcinosis idiopática se presenta en pacientes sanos y es asintomática; incluye la calcinosis escrotal, la calcinosis nodular de Winer o nódulos calcificados subepidérmicos y la calcinosis tumoral familiar. Esta última es una condición rara que se caracteriza por el depósito de calcio periarticular en pacientes normocalcémicos sin conexión al hueso. Caso clínico: Paciente de sexo masculino de 5 meses de edad, quien al séptimo día de vida fue hospitalizado por ictericia multifactorial, sepsis neonatal tardía y apnea con crisis epilépticas. La evolución fue tórpida, con ingresos hospitalarios por crisis epilépticas de difícil manejo, respuesta parcial a la difenilhidantoína y descontrol electrolítico. Mediante la secuenciación del exoma dirigido se detectó una variante patogénica de sentido equivocado en FGF12 que confirmó el diagnóstico de encefalopatía epiléptica temprana número 47. Además, el paciente presentó dermatosis congénita diseminada a las extremidades inferiores con afección en muslos, asintomática, bilateral y simétrica, constituida por hipopigmentación y fóveas duras a la palpación profunda. La biopsia mostró calcificación distrófica. Conclusiones: Se presenta el caso de un lactante con calcinosis cutis congénita profunda asociada con una variante patogénica en el gen FGF12 y con encefalopatía epiléptica, situación clínica que, a la fecha, no había sido reportada en la literatura.

Abstract Background: 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. Case report: 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 Conclusions: 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 misdiagnosed

Tumoral calcinosis is an uncommon condition which has been described to exist in primary and secondary forms. A lack of awareness of this entity can lead to unnecessary procedures and incorrect management. We report a case of a patient on peritoneal dialysis who presented with multiple painful joint swellings to the orthopaedic department. An initial diagnosis of septic arthritis was made, then revised to chronic tophaceous gout and referred to the rheumatology unit.

A rare development of tumoral calcinosis of the ear auricle

Tumoral calcinosis is a condition characterized by deposition of calcium salts in the skin and sub- cutaneous tissue, commonly found around the joints. However, tumoral calcinosis of the auricle is extremely rare. We present the case of a 13-year-old boy with tumoral calcinosis of the helix of the ear auricle. A 13-year-old boy presented with a 10-year history of an enlarging mass on the left auricle. The mass was hard, non-tender, and non-compressible. The patient had no history of trauma. Complete surgical excision and pathological examination of the specimen was performed. The final diagnosis of the excised mass was tumoral calcinosis. After 9 months of follow-up, there were no signs of recurrence of the tumor and the patient was satisfied with the surgical results. Tumoral calcinosis of the auricle is extremely rare and may be misdiagnosed as other tumors. Pathological examination is essential for definitive diagnosis and complete surgical excision should be considered as the treatment of choice.

Tumoral Calcinosis at Unusual Site: Diagnosis on Fine Needle Aspiration Cytology.

Tumoral calcinosis (TC) is a rare benign clinical and histological entity. It presents as tumour-like periarticular deposits of calcium in hip, shoulder and elbow regions. Idiopathic tumoral calcinosis (TC) is different from the secondary calcium deposition associated with terminal renal diseases, hypervitaminosis D and milk alkali syndrome with disturbed calcium metabolism. There are no demonstrable abnormalities of calcium metabolism in Idiopathic TC. TC predominantly affects children and young adults and is rare in old age. When TC occurs in old patients, possibility of other differential diagnoses need to be considered and ruled out with the help of morphological examination of the tumorous swelling. Two cases of TC that occurred in 65 and 75 year old females respectively were initially diagnosed on the basis of fine needle aspiration cytology (FNAC) findings of the swellings and later confirmed by histopathological examination of the excised tissue. Diagnostic biopsies were avoided in these patients. Cytological study can prove to be a rapid and reliable method of preoperative morphological diagnosis of tumoral calcinosis.

Tumoral calcinosis in secondary hyperparathyroidism

@#<p style="text-align: justify;"><strong>OBJECTIVE:</strong> To  report  a  case  of  tumoral  calcinosis  from  secondary hyperparathyroidism  and  to describe its surgical management.<br /><strong>METHODS:</strong><br /><strong> Design:</strong> Case Report<br /> <strong>Setting:</strong> Tertiary Public University Hospital<br /> <strong>Patient:</strong> One<br /><strong>RESULTS:</strong> A 34-year-old woman presented with progressively-enlarging bilateral upper extremity masses. Diagnostic tests revealed hyperfunctioning parathyroid glands. The patient underwent subtotal  parathyroidectomy,  right  thyroid  lobectomy  with  isthmusectomy,  and  transcervical thymectomy.    Follow-up  revealed  marked  decrease  in  parathyroid  hormone,  and  progressive resolution of the tumoral calcinosis.<br /><strong>CONCLUSION:</strong> Subtotal  parathyroidectomy  and  transcervical  thymectomy  have  a  role  in  the management  of  tumoral  calcinosis,  and  in  this  case  led  to  excellent  post-operative  results. The rare  presentation  of  secondary  hyperparathyroidism  and  intervention  in  this  patient  may  have potential lessons for future management of similar cases.</p>

Tumoral calcinosis and calciphylaxis treated with subtotal parathyroidectomy and sodium thiosulphate / 영남의대학술지

Tumoral calcinosis (TC) is a condition resulting from extensive calcium phosphate precipitation, primarily in the periarticular tissues around major joints. Calciphylaxis is a fatal ischemic vasculopathy mainly affecting dermal blood vessels and subcutaneous fat. This syndrome is rare and predominantly occurs in patients with end-stage renal disease. Here, we report on a rare case involving a patient with TC complicated with calciphylaxis. Our patient was a 31-year-old man undergoing hemodialysis who presented with masses on both shoulders and necrotic cutaneous ulcers, which were associated with secondary hyperparathyroidism, on his lower legs. He underwent subtotal parathyroidectomy, and sodium thiosulfate (STS) was administered for 27 weeks. Twenty months after beginning the STS treatment course, he experienced dramatic relief of his TC and calciphylaxis.

Tumoral Calcinosis of the Index Finger: A Case Report

Tumoral calcinosis is a type of idiopathic calcinosis cutis which usually occurs around the large joints due to deposition of calcium phosphate, but extremely rare in the fingers which has been reported less than 20 cases in the literature. When it occurs on the fingers, it shows almost normal skin appearance and no specific symptoms except localized tenderness and numbness, therefore it is difficult to differential diagnosis among other common tumors on the fingers. In most cases surgical excision is performed before final diagnosis, and it is easy to misdiagnosis. The patient had mass like lesion which is enlarging for last 2 years at the radial side of the second finger without any trauma history. We prediagnosed the tumoral calcinosis with the simple radiologic test and laboratory tests and performed surgical excision without recurrence. So we report a case of tumoral calcinosis of the radial side of the second finger with brief review of the literature.

Ocular involvement in tumoral calcinosis.

We report a 32-year-old male who presented with blurring of vision in the right eye since 1.5 years. He had history of swelling over the extensor surfaces of large joints which were migratory in nature. Few of them spontaneously subsided following suppuration of chalky white discharges except over the gluteal region. Ophthalmological examination revealed visual acuity of counting fi ngers (CF) at 1 m in the right eye and perilimbal conjunctival calcifi c deposits and retinal angiod streaks in both eyes. There was choroidal neovascular membrane with subretinal hemorrhage in right eye, confirmed by fundus fluorescein angiography (FFA) and optical coherence tomography (OCT). B scan ultrasonography and simultaneous vector A scan detected calcifi cation of the subretinal neovascular membrane and the adjoining sclera.

Calcinosis tumoral hiperfosfatémica en pediatría: reporte de un caso / Hyperphosphatemic tumoral calcinosis in pediatrics: Case report

Introducción: La calcinosis tumoral es una enfermedad rara, cuya prevalencia es difícil de determinar debido a lo aislado de los casos. Se caracteriza por depósitos periarticulares, únicos o múltiples, de cristales de calcio y fosfatos. Esto es debido a una falla en la inhibición de la recaptura de fosfatos a nivel de los túbulos proximales, lo que causa hiperfosfatemia. No está descrito un tratamiento óptimo y el reducido número de casos dificulta la evaluación de los resultados. Caso clínico: Se presenta el caso de una paciente de sexo femenino de 10 años de edad, con un cuadro clínico caracterizado por aumento de volumen en ambos codos y en el dedo índice de la mano derecha. Se realizó diagnóstico de calcinosis tumoral hiperfosfatémica. Se dio tratamiento quirúrgico y médico, sin presentar recidiva en los primeros seis meses de seguimiento. Conclusiones: La calcinosis tumoral es una entidad rara que debe sospecharse al tener un paciente con calcificaciones periarticulares únicas o múltiples. El tratamiento médico debe orientarse a restablecer el equilibrio calcio-fósforo. El tratamiento quirúrgico se utiliza por razones estéticas y funcionales.

Background: Tumoral calcinosis is a rare disease whose prevalence is hard to determine due to the scarcity of the reported cases. This disease is distinguished by single or multiple periarticular deposits of calcium and phosphate due to a failure in the phosphate recapture inhibition at the proximal renal tubules, resulting in hyperphosphatemia. There is no optimal treatment described because there are a reduced number of cases, which makes it difficult to assess the results. Case report: We present the case of a 10-year-old female with a growing mass in both elbows and index finger of the right hand. Diagnosis was made of hyperphosphatemic tumoral calcinosis. Surgical and medical treatment were given, with no relapse during a 6-month follow-up. Conclusions: Tumoral calcinosis is a rare entity that should be considered when a patient has a single or multiple periarticular calcifications. Medical treatment is oriented to restoring the calcium-phosphate balance. Surgical treatment should be offered for aesthetic and functional reasons.

Uremic Tumoral Calcinosis around the Hip Joint in a Patient on Hemodialysis / 대한고관절학회지

The term tumoral calcinosis in used to describe the deposition of nodular calcareous masses in the soft tissue around large joints, such as the hips, shoulders, and elbows. Although the cause has not yet been clearly determined, according to the hypothesis, failure of phosphorus metabolism in the proximal tubule in kidney, chronic renal disease and hyperparathyroidism may cause tumoral calcinosis. No cases of tumoral calcinosis treated with surgical resection in chronic renal failure patients on hemodialysis, so called uremic tumoral calcinosis, have been reported in Korea. The authors experienced the case of a 57-year-old woman with chronic kidney disease on hemodialysis who presented with a mass around the hip. We made a diagnosis using plain radiographs, magnetic resonance imaging, and computed tomography of tumoral calcinosis, and treated the patient successfully with surgical resection. We report on a case of uremic tumoral calcinosis with a review of the literature.

Resolution of uremic tumoral calcinosis in a patient on peritoneal dialysis with long-term low-calcium dialysate treatment

Tumoral calcinosis is a rare complication in uremic patients. An in-depth review of published literature suggests that most patients with uremic tumoral calcinosis do not respond to medical treatment. Here, we report the case of a patient on peritoneal dialysis who presented with infected multifocal masses on both hip joints and was successfully treated by medical intervention. The patient was diagnosed with uremic tumoral calcinosis by physical examination and radiologic imaging, and treated with low-calcium dialysis and a non-calcium phosphate binder, sevelamer, without increasing the dose of dialysis. At the 36-month follow-up, the majority of masses had disappeared and the patient was asymptomatic.

A Case of Tumoral Calcinosis / 대한피부과학회지

No abstract available.

Calcinosis tumoral: una rara entidad en hiperparatiroidismo terciario

Objetivo: La calcinosis tumoral es un desorden infrecuente caracterizado por el desarrollo de masas calcificadas en los tejidos periarticulares de las articulaciones. Se presenta caso representativo. Caso Clínico: Se presenta el caso de una paciente femenina de 34 años con enfermedad renal crónica e hiperparatiroidismo terciario quien presentó un tumor de 40 x 20 cm aproximadamente en la cadera derecha y 10 x 10 cm en la cadera izquierda, ambos sólidos, pétreos, no móviles y poco dolorosos, de 1 año de evolución. Bioquímica sanguínea reveló hiperfosfatemia, hipercalcemia y PTH 1125 pg/mL. En radiografías se apreció calcificación prominente en ambas caderas principalmente la derecha. El tratamiento ofrecido fue paratiroidectomía con autoimplante. Conclusión: La calcinosis tumoral es un síndrome de calcificación ectópica infrecuente y puede ser una rara complicación del hiperparatiroidismo terciario y de la enfermedad renal crónica.

Objective: The tumoral calcinosis is an infrequent disorder characterized by the development of calcified masses within the peri-articular soft tissues of large joints. A representative case is presented. Case presentation: We present a case of a woman patient of 34 years old with chronic renal failure and tertiary hyperparathyroidism who presented a solid tumor of 40 x 20 cm approximately in the right hip and a tumor of 10 x 10 cm in the left hip, stony, nonmovable and little painful since 1 year ago. Blood biochemistry revealed hyperphosphatemia, hypercalcemia and PTH 1125 pg/mL. In x-rays prominent calcification in both hips was appraised mainly the right. The offered treatment was parathyroidectomy with autoimplant. Conclusion: Tumoral calcinosis is an uncommon ectopic calcification syndrome and may be a rare complication of tertiary hyperparathyroidism and chronic renal failure.

Calcinosis tumoral / Tumoral calcinosis

La calcinosis tumoral (CT) es una enfermedad pseudotumoral rara, de etiología desconocida, que afecta a tejidos blandos periarticulares. Se diagnostica en base a las imágenes radiográficas, tomografía axial computarizada (TAC) y resonancia magnética nuclear (RNM), y su tratamiento es quirúrgico. En este trabajo se presenta un caso de CT y se revisan los conceptos actuales de esta infrecuente enfermedad.

Tumoral calcinosis is a rare pseudotumoral disease ofunknown etiology affecting periarticular soft tissues. Thediagnosis may be advice by radiographic, CT scan and MRimages. Surgery is the elective treatment. A new case oftumoral calcinosis is here presented, reviewing the currentconcepts of this infrequent process.

Hyperposphatahemic tumoral calcinosis successfully treated with surgical excision and acetazolamide

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. We present a rare case of tumoral Calcinosis associated with hyperphosphataemia in a 27-year old Sudanese woman. Histological findings confirmed the diagnosis of tumoral calcinosis. Laboratory investigations showed hyperphosphataemia with normal levels of serum calcium and parathyroid hormone (PTH). The patient was treated successfully with surgical excision and acetazolamide.

Calcinosis tumoral: una rara entidad en hiperparatiroidismo terciario / Tumoral calcinosis: a rare entity in tertiary hyperparathyroidism

La calcinosis tumoral es un desorden infrecuente caracterizado por el desarrollo de masas calcificadas en los tejidos periarticulares de las articulaciones. Presentación del caso: se presenta un caso de una paciente femenina de 34 años con enfermedad renal crónica e hiperparatiroidismo terciario quien presentó un tumor de 40 x 20 cm aproximadamente en la cadera derecha y 10 x 10 cm cadera izquierda, ambos sólidos, pétreos, no móviles y poco doloroso de 1 año de evolución. La bioquímica sanguínea reveló hiperfosfatemia, hipercalcemia y PTH 1125 pg/ml. En las radiografías se apreció calcificación prominente en ambas caderas, principalmente la derecha. El tratamiento ofrecido fue paratiroidectomía con autoimplante. Conclusión: la calcinosis tumoral es un síndrome de calcificación ectópica infrecuente y puede ser una rara complicación del hiperparatiroidismo terciario y de la enfermedad renal crónica(AU)

The tumoral calcinosis is an infrequent disorder characterized by the development of calcified masses within the peri-articular soft tissues of large joints. Case presentation: we present a case of a woman patient of 34 years old with chronic renal failure and tertiary hyperparathyroidism, who presented a solid tumor from 40 x 20 cm approximately in the right hip and a tumor of 10 x 10 cm in left hip, stony, nonmovable and little painful from 1 year ago. Blood biochemistry revealed hyperphosphatemia, hypercalcemia and PTH 1125 pg/ml. In x-rays prominent calcification in both hips was appraised mainly the right. The offered treatment was parathyroidectomy with autoimplant. Conclusion: Tumor calcinosis is an uncommon ectopic calcification syndrome and it is can a rare complication of tertiary hyperparathyroidism and chronic renal failure(AU)