Hyperphosphatemic familial tumoral calcinosis hftc. In general, it involves large joints such as the hip, knee, shoulder, and elbow. It is painless and it is found commonly around large joints such as hip, shoulder and elbow. Describe the most common differential diagnosis of this entity. Tumoral calcinosis occurs when a large amount calcium salts deposit into the soft tissues. Common causes include trauma, acne, varicose veins. 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. It is also considered by some to have a hereditary predisposition.
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. Purposes introduction tumoral calcinosis tc is an uncommon familial. Oct 01, 2015 access to this database is free of charge. Click on the link to view a sample search on this topic. 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. The calcium deposition is considered heterotopic, but it is neither ossification nor osteoid matrix formation. Virchow initially described calcinosis cutis in 1855. Calcinosis typically develops in early childhood to early adulthood, although in some people the deposits first appear in infancy or in late adulthood. Mar 01, 2020 pubmed is a searchable database of medical literature and lists journal articles that discuss normophosphatemic familial tumoral calcinosis. 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. All 3 patients with this condition have been treated at the mercedes hospital in.
Calcinosis cutis is a term used to describe a group of disorders in which aberrant calcium deposits form in the skin. Tumoral calcinosis is a rare condition involving periarticular soft tissue calcium deposition that may arise secondary to chronic renal insufficiency. 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 rare and benign hereditary tumorlike periarticular calcium deposit. It is characterized by lobular densely calcified masses confined to the soft tissue, generally at the extensor surface of a joint in the anatomic distribution of a bursa. We discussed the etiology, diagnosis, and management of this condition. Deposition of calcium salts in the skin, subcutaneous tissue, or other part of the body in certain pathologic conditions. Secondary tumoral calcinosis is a rare disorder that is most prevalent in patients with chronic renal failure.
Sep 16, 2014 tumoral calcinosis tc has long been a controversial clinicopathological entity. Tumoral calcinosis is characterized by the deposition of calcium phosphate in periarticular tissues. Twentyseven cases of tumoral calcinosis collected from the literature and six more previously unreported have been studied. Mim 211900 is an autosomal recessive metabolic disorder characterized by the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and bones. Oct 23, 2007 tumoral calcinosis is a rare but wellrecognized clinical and pathologic entity characterized by tumorlike periarticular deposits of calcium, which are most often observed in the regions of the shoulders, elbows, and hips. It is also important to followup these patients as the cardiovascular prognosis is poor due to accelerated vascular calcification. The calcium deposit will show up as a cloud of varying intensity on the xray, depending on density and size. We are presenting a case of tumoral calcinosis tc diagnosed on histopathology with characteristic xray, ct and mri images. Tumoral calcinosis tc is a pathological entity with an unknown cause characterized by the formation of calcified masses in the periarticular soft tissue. Hyperphosphatemic familial tumoral calcinosis genetics. Identify the characteristic features of tumoral calcinosis on imaging studies and histopathology slides. Tumoral calcinosis is an uncommon condition associated with the deposition of painless calcific masses.
Hyperphosphatemic familial tumoral calcinosis genetics home. Giard, 1 and duret, 2 described this entity in the medical literature in 1898 and 1899, respectively. On this basis, diagnostic criteria and possible etiologic factors are presented and discussed. Patients will often present with localized swelling and reduced. Tumoral calcinosis is a familial disease, usually associated with hyperphosphatemia, that is manifested by the deposition of calcific masses around major joints. The rare presentation of secondary hyperparathyroidism and intervention in this patient may have potential lessons for future management of similar cases. 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. Associated with trauma, renal failure, hyperparathyroidism, metastatic carcinoma, myeloma, scleroderma, hypermetabolic states, sarcoidosis associated with mutations in fibroblast growth factor23 gene and other genes j bone joint surg am 2009. Surgical excision of the masses has been the only partially effective treatment. A radiologist can evaluate it to determine the extent of the lesion and confirm that it is a calcinosis. Apr 05, 2020 diagnostic testing for tumoral calcinosis usually involves xray imaging. It is more common in childhood or early adolescence of africanamerican females.
Hyperphosphatemic familial tumoral calcinosis ngs panel. Plain radiography showed large, amorphous, periarticular soft tissue calcifications, characteristic of tumoral calcinosis. Fanburgsmith, md cyril fisher, md, dsc, frcpath key facts terminology extraskeletal soft tissue calcification with granulomatous response clinical issues most cases calcinosis is a condition that manifests as calcium deposits in the skin and other tissues of the body. 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. Tumoral calcinosis involving the cervical spine surgical. Tumoral calcinosis definition of tumoral calcinosis by the. Tumoral calcinosis article about tumoral calcinosis by the. We report a case of a patient with cervical tumoral calcinosis with endstage renal disease. Calcinosis is a condition that manifests as calcium deposits in the skin and other tissues of the body. The term should be strictly used to refer to a disease caused by a hereditary metabolic dysfunction of phosphate regulation associated with massive p.
On the basis of this study we suggest the following criteria for the diagnosis of tumoral calcinosis. The case was diagnosed as a case of idiopathic calcinosis cutis and was put on aluminum hydroxide gel 10 ml 4 times a day. Discuss treatment and management of tumoral calcinosis. Tumoral calcinosis is a rare inherited metabolic disorder characterized by massive calcium and phosphate deposits. Six had idiopathic tumoral calcinosis and 6 had secondary tumoral calcinosis. We, also, have undertaken studies of calcium metabolism in tumoral calcinosis 2, 3. A case of idiopathic calcinosis cutis pdf free download. Discuss the entity known as tumoral calcinosis and its association with esrd end stage renal disease.
Pubmed is a searchable database of medical literature and lists journal articles that discuss familial tumoral calcinosis. I read with interest the article by mitnick and colleagues 1 on calcium and phosphate metabolism in tumoral calcinosis. Five patients with tumoral calcinosis were evaluated with radiography, bone scintigraphy, computed tomography ct, and magnetic resonance mr imaging. Nov 27, 2014 a 19 year old man on haemodialysis for renal failure caused by goodpastures disease presented with progressive left elbow swelling. Tumoral calcinosis is a familial condition characterized by solitary or multiple painless, periarticular masses. Normophosphatemic familial tumoral calcinosis genetic and. Calcinosis types, causes, symptoms, diagnosis, treatment. Oct 27, 2017 tumoral calcinosis is rarely located in spine. According to the presence or absence of an underlying calcifying disease process, tc has been divided into primary and secondary varieties. Tumoral calcinosis should be considered in the differential diagnosis of any soft tissue calcification. 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. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Tumoral calcinosis definition of tumoral calcinosis by. Tumoral calcinosis in secondary hyperparathyroidism. Familial tumoral calcinosis genetic and rare diseases. Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone chefetz et al. Neonate with calcinosis cutis following extravasation of. We discuss the pathophysiology, diagnosis and therapeutic interventions of tumoral calcinosis. Tumoral calcinosis annals of internal medicine american. Tumoral calcinosis is a rare condition in which there is calcium deposition in the soft tissue in periarticular location i.
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