Primary tumoral calcinosis is a rare autosomal recessive disorder characterized by ectopic calcified tumoral masses. Cureus tumoral calcinosis of the neck in a patient with. We report a case of a patient with cervical tumoral calcinosis with endstage renal disease. Paraspinal tc may cause severe pain and potentially devastating neurological deficits. By contrast, spinal calcinosis has been the subject of only limited reports18. Tumoral calcinosis is usually asymptomatic and is characterized as lobular densely calcified masses confined to the soft tissue, generally at the extensor surface of a joint in the anatomic distribution of a bursa. Such presentations in a dialyzed patient should suggest tumoral calcinosis, which is a rare.
Idiopathic tumoral calcinosis with unusual presentationcase. Calcifications in cases of tumoral calcinosis share the following characteristics, but without evidence of a common. Hyperphosphatemic familial tumoral calcinosis caused by a. Tumoral calcinosis kindblom 1988 apmis wiley online. 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. It is characterized by extensive nonosseous calcification, especially in the. Pelvic radiographs showed a giant calcified mass in the.
Tumoral calcinosis tc is a rare locally aggressive lesion characterised by extraarticular soft tissue deposition of the calcium phosphate around large joints. An 18yearold man presented to our department with a 1year history of pain in the region of his left hip and difficulty in squatting. Tumoral calcinosis tc is a pathological entity with an unknown cause characterized by the formation of calcified masses in the periarticular soft tissue. Calcinosis cutis is a descriptive term for the deposition of insoluble calcium salts in the cutaneous and subcutaneous tissue. Tumoral calcinosis is an uncommon and seemingly unrecognised disease of obscure aetiology. Tumoral calcinosis is a rare familial disorder characterized by tumour like masses of calcification, usually in the soft tissues. Teutschlaender, 3, 4 studied this disease process from 1930 to 1950, at which time it became known as teutschlaender. Its pathogenesis and genetic background have been gradually unravelled since its first description in 1943. May 25, 2002 a 45yearold man presented with a mass in the right trochanteric area, which had rapidly grown over a period of 3 weeks, causing ambulatory pain and difficulties. Tumoral calcinosis in a patient on peritoneal dialysis the. Tumoral calcinosis is a distinct disease of unknown etiology.
Pubmed is a searchable database of medical literature and lists journal articles that discuss normophosphatemic familial tumoral calcinosis. Tumoral calcinosis is a familial condition characterized by solitary or multiple painless, periarticular masses. Most commonly, tc affects the joints of the upper limbs and the hips. He reported minor recurrent injury during athletic activity. In this case, tumoral calcinosis was the result of metastatic calcification related to underdialysis with a chronically raised calcium phosphate product. Mim 211900 is an autosomal recessive metabolic disorder characterized by the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and bones. Tumoral calcinosis is an uncommon pathological entity characterised by multiple circumscribed calcified masses in periarticular connective tissue. All 3 patients with this condition have been treated at the. Tumoral calcinosis of the craniovertebral junction as a. Radiography showed calcifications posterior to the left scapula. Tumoral calcinosis tc is rare in patients with systemic sclerosis but is associated with morbidity. 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. Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly. Hyperphosphatemic ftc has been shown to result from mutations in three genes.
Tumoral calcinosis is a condition where deposits of calcium form under the skin and cannot be cleared by the body. Calcinosis typically develops in early childhood to early adulthood, although in some people the deposits first appear in infancy or in late adulthood. Initial physical examination and imaging studies were suggestive of more common etiologies of thumb pain. Surgical decompression by removing the tc masses and applying surgical techniques to support the spine have provided substantial relief of the symptoms in the majority of cases. Tumoral calcinosis is a rare clinical and histopathologic syndrome, characterized by lobular, calcified soft tissue masses that occur in periarticular locations, especially. T umoral calcinosis tc is a rare clinical syndrome caused by calcium deposition in periarticular soft tissue. Identify the characteristic features of tumoral calcinosis on imaging studies and histopathology slides.
They were nontender and clinically resembled gouty tophi. The clinical presentation and radiographic findings including computed tomography is described in a case of tumoral calcinosis along with a detailed light. Tumoral calcinosis tc is a rare benign condition characterized by extensive nonosseous calcification within the periarticular soft tissues of large joints, such as hip, elbows, shoulders, and rarely foot. Hyperphosphatemic tumoral calcinosis in pediatrics. Hyperphosphatemic familial tumoral calcinosis genetics. Tumoral calcinosis in secondary hyperparathyroidism. Digital calcinosis circumscripta is an unusual form of calcinosis circumscripta occurring specifically in the digits. Dialysis as a treatment option for a patient with normal. Mar 01, 2020 pubmed is a searchable database of medical literature and lists journal articles that discuss normophosphatemic familial tumoral calcinosis. This is a case report that has not received any financial support. Hyperphosphatemic familial tumoral calcinosis genetics home. Tumoral calcinosis of thoracic spine associated with. Familial tumoral calcinosis ftc refers to a heterogeneous group of inherited disorders characterized by the occurrence of cutaneous and subcutaneous calcified masses. The mass was transversed by fibrous septa with fibroblastic proliferation.
Hyperphosphatemic familial tumoral calcinosis ngs panel. If you have problems viewing pdf files, download the latest version of adobe reader. Softtissue calcinosis is a common manifestation in patients with systemic sclerosis ssc, most typically seen as subcutaneous and intracutaneous calcium deposition in the extremities. A disorder of calcium and inorganic phosphate metabolism may play a role. 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. The characteristic clinical features, radiological and pathological findings are described. This signs and symptoms information for tumoral calcinosis has been gathered from various sources, may not be fully accurate, and may not be the full list of tumoral calcinosis signs or tumoral calcinosis symptoms. Nov 27, 2014 download powerpoint plain radiography showed large, amorphous, periarticular soft tissue calcifications, characteristic of tumoral calcinosis.
The condition is rare among the paediatric population. It was not attached to surrounding muscles, and some chalky, welldefined material emerged from the surface. This rare disease is pathologically identical to the more common soft tissue calcifications secondary tumoral calcinosis. A rare case report of tumoral calcinosis syndrome in an. Defective oglycosylation of novel fgf23 mutations in a. Download powerpoint plain radiography showed large, amorphous, periarticular soft tissue calcifications, characteristic of tumoral calcinosis. Metastatic calcification occurs around large joints hip, shoulder more often than small joints. In dialysis patients, these calcifications correspond to cutaneous calcinosis.
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. Tumoral calcinosis is a rare familial disorder characterized by. Teutschlaender, 3, 4 studied this disease process from 1930 to 1950, at which time it became known as teutschlaender disease in the european literature, 5. There was no history suggestive of an autoimmune disorder. Pdf a case report of tumoral calcinosis researchgate.
Pdf tumoral calcinosis also c alled tumoral lipocalcinosis 1 in which there is large calcareous swellings in the subcutaneou s tissue near. It can be characterized as a rare condition involving softtissue deposits of calcified tissues, most commonly around larger joints, occasionally. Tumoral calcinosis an overview sciencedirect topics. Unlimited viewing of the articlechapter pdf and any associated supplements and figures. An unusual case of symptomatic, solitary, intraarticular tumoral calcinosis of the knee in a 39yearold man is presented. Clinical examination found a tender, hard mass in the left greater trochanteric region with painful, restricted rotation and abduction movements of the hip. Tumoral calcinosis is usually classified as primary idiopathic or familial or secondary. Dystrophic calcinosis cutis results from local tissue damage. We describe a case of a 28yearold man with a history of painful firm masses over his right and left gluteal region, right clavicle region, knees, and left elbow. The phrase tumoral calcinosis was originally described in 1943 by inclan. The disease was first recognized in 1899 by duret who reported cases of a 7yearold girl and her younger brother with multiple calcifications around the elbow and hip joint. The original condition was described in 1899, when duret described the process in siblings with multiple calcifications in the hips and elbows. We, also, have undertaken studies of calcium metabolism in tumoral calcinosis 2, 3. Tumoral calcinosis is a rare disease characterised by deposition of calcified mass near the joints.
Tumoral calcinosis involving the cervical spine surgical. Familial tumoral calcinosis genetic and rare diseases. There are generally 2 categories of tumoral calcinosis. The condition completely resolved with proper dialysis and parathyroidectomy. Tumoral calcinosis tc is a special form of idiopathic calcinosis that affects adolescents and young adults. It is not painful initially, but can lead to complications and may require surgical treatment. Pdf tumoral calcinosis tc has long been a controversial.
Tumoral calcinosis is a rare familial condition characterized by painless, periarticular masses. Tumoral calcinosis is a rare inherited metabolic disorder characterized by massive calcium and phosphate deposits. A 48 year old woman with end stage renal disease who had been on peritoneal dialysis since 1998 presented with multiple enlarging nodules over both hands fig 1, especially around the wrists. The patient had hyperparathyroidism, secondary to chronic renal failure treated by haemodialysis. Histological findings confirmed the diagnosis of tumoral calcinosis. Surgical treatment should be offered for aesthetic and functional reasons. Six of the patients had idiopathic tumoral calcinosis and the other 6 had secondary tumoral calcinosis related to chronic rcnal disease. Based upon the etiology of calcium deposition, there are five subtypes of calcinosis cutis. We discussed the etiology, diagnosis, and management of this condition. Pain was exacerbated by digital pressure and hip rotation and abduction. Tumoral calcinosis is a rare systemic disorder characterized by paraarticular ectopic softtissue calcification.
Of the patients with idiopathic tumoral calcinosis, 3 were male and 3 were female. Surgical complications associated with extensive tumoral calcinosis. The involvement of the hand in a healthy patient is extremely rare, and therefore this condition can cause diagnostic confusion. The fasting serum urate concentration was normal, but serum. Normophosphatemic familial tumoral calcinosis genetic. After studying the disease for more than 20 years, teutschlaender named the disease as lipocalcinogranulomatosis. Fanburgsmith, md cyril fisher, md, dsc, frcpath key facts terminology extraskeletal soft tissue calcification with granulomatous response clinical issues most cases download slide a computed tomographic scan revealed periarticular metastatic calcification with erosion into the radial aspect of the trapezium to a depth of 7 mm. Under the name tumoral calcinosis i am presenting 3 unusual cases of a calcified growth of unknown etiology and pathogenesis to which i have found but little reference in a careful search of the medical literature. The pathogenesis of this disease is not exactly defined. Familial cutaneous and subcutaneous tumoral calcifications are a recognized entity of unknown pathogenesis. This issue tends to be most common in people of african descent, and is. The term tumoral calcinosis was proposed by inclan 2 in 1943 and was accepted worldwide. Tumoral calcinosis tc is a rare clinicpathological entity characterised by neoplasmlike tumoral calcium phosphate depositioncalcinosis.
Tumoral calcinosis is an uncommon lesion, composed of ectopic calcified tissue, most commonly seen. The true incidence is unknown, with most descriptions coming from case reports or small series. Biochemical markers of the disorder include hyperphosphatemia and a normal or an elevated serum 1,25oh 2 d concentration see table iii. We describe a woman with the diffuse cutaneous form of ssc who presented with serious neurological symptoms, including a rapidly. 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. Normophosphatemic familial tumoral calcinosis genetic and. A 19yearold boy presented with a painful progressive swelling around the bilateral elbow and left hip joints over a 6month duration. Hyperphosphatemic familial tumoral calcinosis hftc. A classification for tumoral calcinosis is devised that outlines potential pathogenetic mechanisms and predicts response to therapy and prognosis. Analysis of other forms of calcinosis cutis may reveal definable pathogenetic differences that suggest a coherent classification for all cutaneous calcinoses. We are presenting a case of tumoral calcinosis tc diagnosed on histopathology with characteristic xray, ct and mri images.
Routine laboratory results showed a normal haemogram, and. Describe the most common differential diagnosis of this entity. Tumoral calcinosis is a rare disease characterized by subcutaneous soft tissue deposits of calcium phosphate near large joints, particularly the trochanteric and gluteal areas of the hip, the lateral portion of the shoulder, and the posterior elbow. Sep 16, 2014 tumoral calcinosis tc has long been a controversial clinicopathological entity. Tumoral calcinosis tc, a calcium hydroxyapatitebased mass, is common in the extremities and hips, but has rarely been reported in the spine, and has never been. Giard, 1 and duret, 2 described this entity in the medical literature in 1898 and 1899, respectively. All 3 patients with this condition have been treated at the mercedes hospital in. Tumoral calcinosis occurs as a welldefined pathologic entity in 3. Tumoral calcinosis is a rare condition in which there is calcium deposition in the soft tissue in periarticular location, around joints, outside the joint capsule. Tumoral calcinosis can also be caused by mutations in fgf23.
Five main cell types surrounding the calcified masses were identified. 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. Oct 27, 2017 tumoral calcinosis is rarely located in spine. Sep 19, 2008 tumoral calcinosis is a periarticular calcific lesion, which may be encountered by the hand surgeon. Solitary intraarticular tumoral calcinosis of the knee arthroscopy. Tumoral calcinosis is a distinct clinical and histological entity that is characterized by large periarticular deposits of calcium resembling a neoplasm and is found foremost in the region of hip, shoulder and elbow. Abstract we report a case of idiopathic tumoral calcinosis localized to the thumb without prior trauma or surgery. Click on the link to view a sample search on this topic. Purposes introduction tumoral calcinosis tc is an uncommon familial. Mutations in 3 genes galnt3, fgf23, and kl have been linked to this human disorder. Patients will often present with localized swelling and reduced mobility around the involved joints. Tumoral calcinosis is an uncommon lesion, composed of ectopic calcified tissue, most commonly seen in the large joints of the hips, knees, shoulders, and elbows. This is especially evident in a subtype of calcinosis cutis, known as tumoral calcinosis. Hyperphosphatemic familial tumoral calcinosis hftc is an autosomal recessive metabolic disorder characterized by extensive phenotypic and genetic heterogeneity.
This case report describes the ophthalmic features palpebral conjunctival calcific nodules, the white limbal girdle of vogt, disc drusen, and angioid streaks in a 38yearold asian woman who had tumoral calcinosis associated with hyperphosphatemia. Tumoral calcinosis of the shoulder the lancet oncology. Tumoral calcinosis is a familial disease, usually associated with hyperphosphatemia, that is manifested by the deposition of calcific masses around major joints. The first report of tumoral calcinosis was by duret in 1899 who termed it endothelium calcifie. Tumoral calcinosis revisited common and uncommon features. Surgical excision of the masses has been the only partially effective treatment. 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. Tumoral calcinosis tc is a rare disorder defined by hyperphosphatemia and ectopic. Tumoral calcinosis is an uncommon disorder, but may be encountered in the hand and wrist. According to the presence or absence of an underlying calcifying disease process, tc has been divided into primary and secondary varieties.
Tumoral calcinosis, also referred to as hyperphosphatemic familial tumoral calcinosis, is a rare genetic disease characterized by periarticular cystic and solid tumorous calcifications. Calcinosis typically develops in early childhood to early adulthood, although in some people the deposits. Discuss treatment and management of tumoral calcinosis. Tumoral calcinosis is characterized by juxtaarticular softtissue calcifications resulting in pain, limitations of joint movement, ulceration and secondary. Hyperphosphatemic tumoral calcinosis bmj case reports.
A case in a young caucasian boy aged 14 is reported. Tumoral calcinosis tc is a rare benign condition characterized by deposition of large hydroxyapatite or calcium phosphate crystals in periarticular soft tissue, usually around large joints. Here, we report a case of 19yearold girl who had both cryptogenic cirrhosis and idiopathic tumoral calcinosis. A medline search of english language literature revealed multiple. In this report, the characteristics of tc of the cervical spine, including the clinical presentation, radiographic features, and surgical management are discussed.
594 227 1296 93 1462 1165 520 280 352 788 1312 1035 89 304 964 924 1436 937 124 1257 1143 1093 438 1486 787 929 947 233 242 720 258 89 1093 1288 797 1434 1328 436 858 703 1409 1010 1086