Biochemical markers of the disorder include hyperphosphatemia and a normal or an elevated serum 1,25oh 2 d concentration see table iii. Youll hear about new websites, ipad apps, pathcasts, and other educational materials. Tumoral calcinosis, also referred to as hyperphosphatemic familial tumoral calcinosis, is a rare genetic disease characterized by periarticular cystic and solid tumorous calcifications. Wed like to send you periodic updates regarding pathology educational materials released by our department. Sep 16, 2014 tumoral calcinosis tc has long been a controversial clinicopathological entity. Idiopathic tumoral calcinosis cutis a rare clinical entity. Tumoral calcinosis sir, calcinosis cutis is a group of disorders characterized by deposition of calcium salts in the skin. We are presenting a case of tumoral calcinosis tc diagnosed on histopathology with characteristic xray, ct and mri images. Familial tumoral calcinosis genetic and rare diseases. Tumoral calcinosis tc in scleroderma american journal of. Tumoral calcinosis is caused by abnormal phosphate regulation associated with massive periarticular calcinosis. A classification for tumoral calcinosis is devised that outlines potential pathogenetic mechanisms and predicts response to therapy and prognosis. The histopathology showed extensive dystrophic calcification. The term should be strictly used to refer to a disease caused by a hereditary metabolic dysfunction of phosphate regulation associated with massive periarticular calcinosis and should not be used to refer to softtissue calcification in general.
Tumoral calcinosis in a peritoneal dialysis patient d l raju 1, t podymow and p barre 1 1division of nephrology, mcgill university health center, montreal, canada correspondence. Tumoral calcinosis tc is a rare locally aggressive lesion characterised by extraarticular soft tissue deposition of the calcium phosphate around large joints. Idiopathic tumoral calcinosis with unusual presentation. Tumoral calcinosis appears to be triggered by bleeding followed by aggregation of foamy histiocytes. Dec 08, 2014 tumoral calcinosis is a disease characterized by periarticular deposition of calcium phosphate mostly around major joints of the body. Tumoral calcinosis of the shoulder the lancet oncology. Idiopathic tumoral calcinosis rathod s, jindal n, singh g. Tumoral calcinosis occurs when a large amount calcium salts deposit into the soft tissues. Tumoral calcinosis in a peritoneal dialysis patient. Tumoral calcinosis is a rare disease that has been recognized since 1899.
A radiologist can evaluate it to determine the extent of the lesion and confirm that it is a calcinosis. To study the pathogenesis of tumoral calcinosis tc, we investigated 111 cases registered in zaire over 30 years. Avid 18ffdg uptake in idiopathic tumoral calcinosis. Nftc caused by mutation in the sterile alpha motif domaincontaining protein9 gene samd9, 610456. To report a case of primary hyperphosphatemic tumoral calcinosis tc and its longterm 10year followup. Tumoral calcinosis johns hopkins surgical pathology unknown. Unfortunately, the term tumoral calcinosis has been liberally and imprecisely used to describe any massive collection of periarticular calcification, although this term actually refers to a hereditary condition associated with massive periarticular calcification. Oct 01, 2015 tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxtaarticular regions hip, elbow, ankle and scapula without joint involvement.
Pathophysiology tumoral calcinosis is attributed to an increased. To date there have been no reports of calcification involving the airway. Tumoral calcinosis of the filum terminale neurosurgery. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks.
Tumoral calcinosis is secondary to a mutation in fgf23 fibroblast growth factor 23, kl klotho gene and the n acetylgalactosaminyltransferase 3 galnt3 gene. The calcified material is blue and pink, acellular, without inflammation, and shows no granuloma. Tumoral calcinosis is a rare condition involving periarticular soft tissue calcium deposition that may arise secondary to chronic renal insufficiency. Pathomorphological features of calcinosis circumscripta in. We acknowledge that although radiological and pathological descriptions are suggested as diagnostic criteria, mostly the term tc is saved for the condition caused by hereditary metabolic dysfunction of phosphate regulation associated with massive periarticular masses.
Calcinosis of renal failure secondary tumoral calcinosis approximately 1% prevalence of periarticular masses. Tumoral calcinosis is a familial condition characterized by solitary or multiple painless, periarticular masses. Calcinosis cutis, a group of disorders in which calcium is deposited in the. Jul 31, 20 dermatopathology reference describes tumoral calcinosis histopathology including histologic features and provides links to additional medical references. Tumoral calcinosis tc is a rare clinical and histopathologic syndrome characterized by calcium salt deposition in different periarticular soft tissue regions1,2. Also called calcium hydroxyapatite deposition in soft tissue, metastatic calcification. The patients were 108 black africans and three caucasians between 3 and 74 years of age mean, 37. Discussion tumoral calcinosis is characterized by massive subcutaneous soft tissue deposit of calcium phosphate near large joints such as hip, the shoulder, and the elbow, in addition to the wrist, feet and hands mitnick et al, 1980. Tumoral calcinosis is a rare condition in which there is calcium deposition in the soft tissue in periarticular location i.
Keywords apatite, calcinosis circumscripta, calcium phosphate, crystallography, hydroxyapatite deposition disease, pseudogout, tumoral calcinosis, turtle gout. Apr 05, 2020 diagnostic testing for tumoral calcinosis usually involves xray imaging. We describe histopathologic and ultrastructural changes in tumoral calcinosis tc occurring in seven siblings from a single family. On the contrary, tumoral calcinosis is a rare familial disease.
Additionally, liu reported a case of tumoral calcinosis in the neck, elbow, wrist, hand, thighs, perineum, and paraspinal muscles with increased uptake on 18ffdg. Tumoral calcinosis is an uncommon disorder characterized by development of calcified masses within the soft tissues near the large joints such as the hip, elbow and shoulder and rarely occurs in. The aim of this article is to report a case of tumoral calcinosis which is a rare disease with obscure cause and to emphasis the surgical resection as good method of management. Histology was consistent with tumoral calcinosis showing amorphous calcium nodules surrounded by histiocytic and giant cell reaction.
Tumoral calcinosis international journal of scientific. We present a unique case of tumoral calcinosis tc with airway involvement and a novel technique for debridement. Tumoral calcinosis is a rare ectopic calcification syndrome characterized by irregular soft tissue masses originally described as being found mainly in large joints. It has also been reported in subcutaneous tissue of the. Purposes introduction tumoral calcinosis tc is an uncommon familial. Tumoral calcinosis involving the cervical spine surgical. Sep 19, 2008 tumoral calcinosis is an uncommon lesion, composed of ectopic calcified tissue, most commonly seen in the large joints of the hips, shoulders, and elbows, but may involve the hand and wrist. The term should be strictly used to refer to a disease caused by a hereditary metabolic dysfunction of phosphate regulation associated with massive p. The most frequent cause of a periarticular calcified mass is chronic renal failure. According to the presence or absence of an underlying calcifying disease process, tc has been divided into primary and secondary varieties.
Infantile tumoral calcinosis of the cervical spine. Two novelgalnt3 mutations in familial tumoral calcinosis. Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxtaarticular regions hip, elbow, ankle and scapula without joint involvement. A 19yearold boy presented with a painful progressive swelling around the bilateral elbow and left hip joints over a 6month duration. In this case, tumoral calcinosis was the result of metastatic calcification related to underdialysis with a chronically raised calcium phosphate product. Soepronos textbook is available on and includes detailed information on over 600 entities and includes four dvd diskettes with highresolution images that provide a virtual dermatopathology reference and guide. Tumoral calcinosis is a familial disease, usually associated with hyperphosphatemia, that is manifested by the deposition of calcific masses around major joints. Tumoral calcinosis in a patient on peritoneal dialysis. Uremic tumoral calcinosis of the foot mimicking infection. We describe an unusual case of primary tumoral calcinosis of the foot in a 76yearold female. A 60yearold female was suffering from painful swelling over the left greater trochanteric area for past 4 months. Low power view of biopsy aspirate showing calcified material, without bone lamellar architecture. Pubmed is a searchable database of medical literature and lists journal articles that discuss normophosphatemic familial tumoral calcinosis. Tumoral calcinosis is a rare familial condition characterized by painless, periarticular masses.
As such tumoral calcinosis is a rare entity and with such unusual presentations like in our case, it may lead to diagnostic confusion. Discuss treatment and management of tumoral calcinosis. We acknowledge that although radiological and pathological descriptions are suggested as diagnostic criteria, mostly the term tc is saved for the condition caused by hereditary metabolic dysfunction of phosphate regulation associated with. Tumoral calcinosis is a rare syndrome characterized by massive subcutaneous soft tissues deposits of calcium phosphate near the large joints. Tumoral calcinosis tc is a rare clinical and histopathologic syndrome characterized by calcium salt deposition in different periarticular soft. Tumoral calcinosis in secondary hyperparathyroidism. The calcium deposit will show up as a cloud of varying intensity on the xray, depending on density and size.
Tumoral calcinosis is a rare disorder presenting with tumorlike masses of calcification, usually in soft tissues around large joints. Hyperphosphatemic familial tumoral calcinosis hftc. Apr 03, 2014 tumoral calcinosis tc in scleroderma tc refers to tumourlike deposition of dense, calcified masses, often with lobulated appearance, in the tissues around large joints. Mim 211900 is an autosomal recessive metabolic disorder characterized by the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and bones. Surgical excision of the masses has been the only partially effective treatment.
Hyperphosphatemic familial tumoral calcinosis secondary to. Commonly encountered in extremities the most common locations in descending order are the hip, elbow, shoulder, foot, and wrist but rare in the spine. Although this condition has been reported in the spine, this is the first reported instance of this uncommon lesion occurring in the intradural compartment, involving the filum terminale. Tumoral calcinosis should be considered in the differential diagnosis of any soft tissue calcification. Tumoral calcinosis of the shoulder panayiotis d megaloikonomos, andreas f mavrogenis, georgios n panagopoulos, vasileios a kontogeorgakos a 38yearold man presented to the first department of orthopaedics at the university of athens in june, 20, with a 4year history of an enlarging left shoulder mass. Tumoral calcinosis of the hand archives of pathology. This is a case report that has not received any financial support. D l raju, division of nephrology, r238, royal victoria hospital, 687 pine avenue west, montreal, quebec, canada h3a 1a1. Characterized by large deposits of calcium in the subcutis. Histopathological preparation showed deeply basophilic amorphous granular material of varying size consistent with calcium deposits surrounded by dense. Excision of the tumor was done and histopathological examination confirmed the diagnosis.
Histopathology discussion references tumoral calcinosis is secondary to a mutation in fgf23 fibroblast growth factor 23, kl klotho gene and the n acetylgalactosaminyltransferase 3 galnt3 gene. Tumoral calcinosis is characterized by the deposition of calcium phosphate in periarticular tissues. Teutschlaender, 3, 4 studied this disease process from 1930 to 1950, at which time it became known as teutschlaender disease in the european. Pathomorphological features of calcinosis circumscripta in a dog eunmi lee1,2, ahyoung kim1,2, eunjoo lee1,2. Dystrophic calcification is the most common type of calcinosis cutis and is associated with a variety of diseases. Soeprono teaches and practices dermatopathology at loma linda university, school of medicine, department of dermatology. Tumoral calcinosis tc is a disease of unknown etiology characterized by the presence of calcified masses in the juxtaarticular regions of the extremities. Tumoral calcinosis is a rare ectopic calcification syn drome characterized by irregular soft tissue masses origi nally described as being found mainly in large. Calcinosis typically develops in early childhood to early adulthood, although in some people the deposits. Analysis of other forms of calcinosis cutis may reveal definable pathogenetic differences that suggest a coherent classification for all cutaneous calcinoses. The condition completely resolved with proper dialysis and parathyroidectomy. Grossly, the cut section of the mass had multiple well. The patient was an 18yearold male, who had been diagnosed with tc.
Tumoral calcinosis should be considered in the differential diagnosis of painful swellings developing in the vicinity of small joints of hand and feet. The lesion was completely surgically excised, without any recurrence at the 3year followup in september, 2016. Surgical excision of the lesion was performed and the histopathological examination showed a well. Hyperphosphatemic familial tumoral calcinosis genetics home. A histopathologic diagnosis of tumoral calcinosishyperphosphatemic type was. Tumoral calcinosis is an uncommon condition associated with the deposition of painless calcific masses. The deposition of calcium in the skin, subcutaneous tissue, muscles and visceral organs is known as calcinosis. Hyperphosphatemic familial tumoral calcinosis ngs panel. In general, it involves large joints such as the hip, knee, shoulder, and elbow. Tumoral calcinosis an overview sciencedirect topics. Describe the most common differential diagnosis of this entity. This condition commonly occurs in the skin, where it is known as calcinosis cutis or cutaneous calcification. It is also considered by some to have a hereditary predisposition.
It mainly manifests in childhood or adolescence as painless, firm, tumourlike masses around the joints that may lead to joint function limitations specially when large in size 1, 3, 4. We acknowledge that although radiological and pathological descriptions are suggested as diagnostic criteria, mostly the term tc is saved for the condition caused by hereditary metabolic dysfunction of. It is more common in childhood or early adolescence of africanamerican females. This lesion is identified by many names in the literature, including uremic tumoral calcinosis, secondary tumoral calcinosis, tumoral calcinosislike lesion, pseudotumor calcinosis, nonfamilial tumoral calcinosis, and tumoral calcification. Cutaneous calcinosis, also calcinosis cutis and cutaneous calcification, is calcification of the skin. The basophilia is so strong that the appearance is of a deep purple figures 2, 3. Huge tumoral calcinosis mimicking a sarcoma shenoy as, sathe pa. We discuss the pathophysiology, diagnosis and therapeutic interventions of tumoral calcinosis. Giard, 1 and duret, 2 described this entity in the medical literature in 1898 and 1899, respectively. Tumoral calcinosis is a disease characterized by periarticular deposition of calcium phosphate mostly around major joints of the body. Click on the link to view a sample search on this topic. Case report a 17 year old female presented with a hard swelling in the gluteal region around the right hip joint of one year duration. The patient was an 18yearold male, who had been diagnosed with tc at the age of 8 years. Its pathogenesis and genetic background have been gradually unravelled since its first description in 1943.
The deposits are typically well circumscribed, with a thin rim of eosinophilic hyalinisation. Pakasa department of pathology, university hospital of kinshasa, kinshasa, zaire. Patients will often present with localized swelling and reduced mobility around the involved joints. Tumoral calcinosis often presents with subcutaneous masses and joint swelling. Hyperphosphatemic familial tumoral calcinosis is a rare genetic disorder characterized by recurrent calcified masses, in addition to other visceral, skeletal, and vascular manifestations. A consistent radiologic finding for tumoral calcinosis was a dense calcified mass that was homogeneous except for a chicken wire pattern of lucencies, which correlated histologically with thin fi. Keywords apatite, calcinosis circumscripta, calcium phosphate, crystallography, hydroxyapatite deposition disease, pseudogout, tumoral calcinosis, turtle gout is the most common and bestcharacterized cause of. Hyperphosphatemic familial tumoral calcinosis hftc is a condition characterized by an increase in the levels of phosphate in the blood hyperphosphatemia and abnormal deposits of phosphate and calcium calcinosis in the bodys tissues. Six had idiopathic tumoral calcinosis and 6 had secondary tumoral calcinosis. There are irregular deposits of intensely basophilic acellular material in the dermis and subcutaneous tissue figure 1. Identify the characteristic features of tumoral calcinosis on imaging studies and histopathology slides. We present a case of tumoral calcinosis with dramatically increased 18ffluoro2deoxydglucose 18ffdg uptake on positron emission tomographycomputed tomography petct that mimicked lymphoma or lymph node metastases. We report 3 cases of tumoral calcinosis that occurred in unusual locations, the metacarpophalageal and proximal interphalangeal joints of the hand.
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