We present two cases of HFTC successfully managed with combination acetazolamide (ACTZ) and sevelamer carbonate. [bone-abstracts.org]

Case presentation Familial tumoral calcinosis was present in two members of a Han Chinese family, namely, the son and daughter. [jmedicalcasereports.biomedcentral.com]

Classification of these conditions often presents many nosological challenges, since underlying etiologies and pathogenetics are often not known. [howlingpixel.com]

It has been several years since the nuclear medicine community was presented with an outstanding text on bone scintigraphy. [books.google.com]

There are many conditions which present with a similar clinicoradiological picture like 2. [myslide.es]

• Pain

  [More] Normophosphatemic familial tumoral calcinosis (NFTC) is an autosomal recessive disorder characterized by calcium deposition in skin and mucosae and associated with unremitting pain and life-threatening skin infections. [gulfdoctor.net]

  Abstract Familial tumoral calcinosis (FTC) is a rare autosomal recessive disorder characterized by the progressive deposition of calcified masses in cutaneous and subcutaneous tissues, which results in painful ulcerative lesions and severe skin and bone [ncbi.nlm.nih.gov]

  HYPERPHOSPHATEMIC FAMILIAL TUMORAL CALCINOSIS Familial tumoral calcinosis (FTC) is a severe metabolic disorder characterised by the progressive deposition of calcified masses in cutaneous and subcutaneous tissues, which results in painful ulcerative lesions [exeterlaboratory.com]

• Swelling

  Figure 1: Photograph of the patient showing swelling over right ankle with few nodules on surface Click here to view Figure 3: Swelling over the left elbow studded with white papules and surface ulceration. [ijdvl.com]

  Close up view of the swelling Routine hematological investigations were performed and the swelling was subjected to an ultrasonography and Fine Needle Aspiration cytology (FNAC). [webmedcentral.com]

  Case 1 A 19-year-old male presented with swelling in the left thigh for 3 months. The swelling was large and had shown relatively rapid growth. It had variegated consistency and the skin over the swelling was stretched. [ijem.in]

  There was no recurrence of swelling after 6 months of follow-up. [archintsurg.org]

  There was an associated cutaneous pigmentation over the swellings [Fig.1] and the swellings were immobile. A mild restriction in abduction and external rotation of both the hip joints were noted. [casereports.in]

• Fever

  There was no history of trauma, back ache, fever, renal calculi, polyuria, fractures and involvement of other joints. There was no similar illness in other family members. [casereports.bmj.com]

  Documents View 212 Download 0 Posted on 05-Sep-2016 Report re or ur l, A 5 Ju 14 nvo Ra ex eco tom lar secondary hyperparathyroidism in chronic renal failure, imaging (MRI) and histopathology help to differentiate this anorexia with low-grade intermittent fever [myslide.es]

  She denied having swelling of any joint, morning stiffness, fever or other constitutional symptoms. Her physician made a clin- ical diagnosis of gouty tophi. [documents.tips]

  Two others experienced increased fatigue, inflammation-mediated anemia of chronic disease, and thrombocytosis; one also had intermittent fevers and a cutaneous inflammatory calcific reaction [ Ramnitz et al 2016 ]. [ncbi.nlm.nih.gov]

• Constitutional Symptom

  symptoms which our case had. [myslide.es]

  She denied having swelling of any joint, morning stiffness, fever or other constitutional symptoms. Her physician made a clin- ical diagnosis of gouty tophi. [documents.tips]

• Surgical Procedure

  The prognosis of the disease is good although patients often undergo many surgical procedures to remove the calcified tumours [20]. Normophosphataemic FTC is less prevalent than the hyperphosphataemic variant [19,26]. [plasticsurgerykey.com]

• Aspiration

  Aspiration of the elbow mass revealed a white chalky material that was shown to be carbonate apatite on infrared spectroscopy and energy dispersive X-ray spectroscopy. [documents.tips]

  Fine needle aspiration cytology of the gluteal lesion showed amorphous granular material with occasional histiocytes. The gluteal lesion was surgically resected, the excised mass was whitish in color and milky fluid came out during sectioning. [eurorad.org]

  Close up view of the swelling Routine hematological investigations were performed and the swelling was subjected to an ultrasonography and Fine Needle Aspiration cytology (FNAC). [webmedcentral.com]

  On Fine Needle Aspiration Cytology, diagnosis of tumoral calcinosis was suspected. [archintsurg.org]

• Hypertension

  She was taking amlodipine for mild hypertension of recent onset. There was no history of alcohol abuse. [documents.tips]

• Arthritis

  Only one-third of the patients gave a history of arthritis. [documents.tips]

  It is unusual for a patient with FTC to present this late in life, but it appeared that she had been tolerating her arthritis and painful cutaneous deposits for some time before presenting with vision loss. [westcoastretina.com]

  Semin Arthritis Rheum 2005, 34: 805–812. PubMed CrossRef Google Scholar 27. Zlotogora J, Haklai Z, Rotem N, et al.: Relative prevalence of malformations at birth among different religious communities in Israel. Am J Med Genet A 2003, 122: 59–62. [link.springer.com]

  Semin Arthritis Rheum 2005;34: 805-12. 4. Alam WA, SreeRam MN, Manrai MK, Bhardwaj R. Tumoral calcinosis. Med J Armed Forces India 2007;63:180-1. 5. Smack D, Norton SA, Fitzpatrick JE. [archintsurg.org]

  Arthritis Rheum 2012;64:3826. 10. Jacob JJ, Mathew K, Thomas N. Idiopathic sporadic tumoral calcinosis of the hip: Successful oral bisphosphonate therapy. Endocrine Pract 2007;13:182-6. 11. Russell RG. Bisphosphonates: The first 40 years. [ijem.in]

• Morning Stiffness

  She denied having swelling of any joint, morning stiffness, fever or other constitutional symptoms. Her physician made a clin- ical diagnosis of gouty tophi. [documents.tips]

• Calcinosis Cutis

  Histopathological report gave a diagnosis of tumoral calcinosis cutis hence; it was diagnosed as idiopathic tumoral calcinosis cutis. Tumoral calcinosis may be either sporadic or familial. [webmedcentral.com]

  Milia-Like Idiopathic Calcinosis Cutis In milia-like idiopathic calcinosis cutis, multiple small 1–2 mm lesions clinically resembling milia develop during childhood. [plasticsurgerykey.com]

  Calcinosis cutis is the deposition of insoluble calcium salts in the skin and subcutaneous tissue. [synapse.koreamed.org]

  [More] Deposition of calcium in skin is currently categorized into a group of disorders referred to as calcinosis cutis. [More] Tumoral calcinosis (TC) is a rare syndrome involving ectopic calcifications in the vicinity of the large joints. [More] [gulfdoctor.net]

  This is especially evident in a subtype of calcinosis cutis, known as tumoral calcinosis. [scienceopen.com]

• Subcutaneous Mass

  Grossly, it appears as an unencapsulated, firm subcutaneous mass that may extend into the adjacent muscles. [webpathology.com]

  In a rare patient, gouty tophus may present as a painless subcutaneous or intramuscular mass in the absence of previous inflammatory arthritis.10,11,12 Focal areas of calcification may sometimes be in the radiographs of gouty tophi. [documents.tips]

  Plain X- Ray of the right hip showed a calcified lobulated subcutaneous mass around the right hip joint ( Figure 1 ). [oapublishinglondon.com]

  History: A 21 year old man presented with an 11 month history of a slow growing, painless subcutaneous mass in the left inguinal area. [cttr.org]

  Magnetic resonance imaging left shoulder joint showed a large lobulated calcified subcutaneous mass lesion is seen around the left shoulder joint in the region of the deltoid muscle and anterior/superior to clavicle. [ijpd.in]

• Erythema

  Classical inflammatory cutaneous manifestations of DM include Gottron's papules, periorbital erythema, periungual telangiectasia, and symmetrical violaceous erythema overlying extensor arms and in a shawl-like distribution. [synapse.koreamed.org]

  Routine surveillance of hyperostosis without clinical symptoms is unnecessary; however, if long-bone pain, erythema, and/or edema develop, obtain radiographs to assess for hyperostosis. Vascular calcifications. [ncbi.nlm.nih.gov]

  The skin over the swelling was normal, with no erythema, discoloration or discharge from the site. A provisional diagnosis of a lipoma was made. Fig 1. The swelling located on the forearm Fig 2. [webmedcentral.com]

  There was minimal surrounding erythema and no drainage or skin breakthrough. The laboratory examination showed normal calcium (9.0 mg/dl), phosphorus (3.9 mg/dl), serum alkaline phosphatase (35 IU/L) and uric acid (3.5 mg/dl). [jpgmonline.com]

• Gouty Tophus

  Gouty tophus usually develops in a patient with a history of recurrent attacks of acute gouty arthritis. [documents.tips]

• Seizure

  Moreover, P1 developed transient pancytopenia during infancy and suffered from self-limiting seizures during infancy with no structural brain abnormalities or neurological deficits identified. [haematologica.org]

• Uremia

  J Submic Cytol 16, 577â83. 5 LeGeros RZ, Contiguglia SR, Alfrey AC (1973) Pathological calcification associated with uremia. Two types of calcium phosphate deposits. [documents.tips]

This finding emphasizes the need for thorough hematologic workup, including marrow studies, in potential sibling donors especially when they lack a genetic marker for familial disease. [haematologica.org]

• Soft Tissue Calcification

  soft tissue calcification and familial occurrence. [archintsurg.org]

  patients have a concurrent disease capable of causing soft tissue calcification. [scienceopen.com]

  Figure 2 (a) X-ray of the left elbow showing extensive lobulated soft tissue calcification. Similar calcific deposits were seen in the right elbow. [documents.tips]

  Subsequent chapters detail the diagnosis of skeletal infections, trauma, vascular disorders, metabolic and neoplastic bone diseases, soft tissue calcifications and joint disorders. [link.springer.com]

  These two radiological characteristics help to distinguish this condition from other disease causing peri- articular soft tissue calcification. sonography. [myslide.es]

• Hyperuricemia

  […] myositis ossificants is usually a delimitated mass with rapid evolution in organized cartilage and bone with lack of loculated appearance; and calcified tophi are less dense do not show sedimentation, and patients with tumoral calcinosis don’t have hyperuricemia [eurorad.org]

  Acta Orthop Scand 50, 533â5. 10 Hollingsworth P, Scott JT, Burry HC (1983) Non-articular gout: hyperuricemia and tophus formation without gouty arthritis. [documents.tips]

This revised edition of Charles Brook's Handbook of Clinical Pediatric Endocrinology provides endocrinologists and pediatricians in training with a fully up-to-date clinical guide presenting evidence-based practice in the diagnosis, treatment, and management [books.google.com]

In secondary cases, medical treatment in the mainstay. Treatment failure warrants parathyroidectomy, and surgical excision should be the last resort in these cases. [wjgnet.com]

Of note, there are no long-term treatment data. [ncbi.nlm.nih.gov]

Only surgical treatment was performed in both patients with satisfactory prognosis. Conclusion This is the first report of Chinese familial tumoral calcinosis. The etiopathogenisis and treatment are discussed. [jmedicalcasereports.biomedcentral.com]

To determine whether dermatologic consultation decreases duration of hospital stay or intravenous antibiotic treatment duration in pat... Use of Dapsone in the Treatment of Chronic Idiopathic and Autoimmune Urticaria. [allmedx.com]

Although the pathogenesis of the calcification process in TC is still controversial, surgical removal is the mainstay treatment with a satisfactory prognosis. [jmedicalcasereports.biomedcentral.com]

A classification for tumoral calcinosis is devised that outlines potential pathogenetic mechanisms and predicts response to therapy and prognosis. [scienceopen.com]

The prognosis of the disease is good although patients often undergo many surgical procedures to remove the calcified tumours [20]. Normophosphataemic FTC is less prevalent than the hyperphosphataemic variant [19,26]. [plasticsurgerykey.com]

Classification of these conditions often presents many nosological challenges, since underlying etiologies and pathogenetics are often not known. [howlingpixel.com]

Moreover, there is evidence that FTC is genetically heterogeneous and another gene might be implicated in the etiology of FTC. [grantome.com]

ETIOLOGY, PATHOGENESIS AND CLASSIFICATION Etiology of TC remains uncertain despite the several theories that have been proposed. [wjgnet.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Despite various investigations, the etiology of soft-tissue calcification is still not well-understood. [ijpd.in]

Updated Molecular and Epidemiologic diagrams added to all new chapters. [books.google.com]

From Jump to: navigation, search Contents 1 Epidemiology 2 Pathology 3 Genetics 4 More General Terms 5 Internet Database 6 References Epidemiology uncommon Pathology life-threatening disorder massive periarticular, & seldom visceral, deposition of calcified [anvita.info]

The presentations and ensuing discussions provided state-of-the-art, up-to-date information on epidemiology, diagnostics, pathomechanisms, and treatment potential relating to PXE, with translational implications. [pxe.org]

Further study will focus on epidemiology in Asia, the mutations in genomics and the variance between Asian and Caucasian patients. [jmedicalcasereports.biomedcentral.com]

Association Between Psoriasis and Sexual and Erectile Dysfunction in Epidemiologic Stud... Preview https://www.ncbi.nlm.nih.gov/pubmed/30304327 JAMA Dermatology; Molina-Leyva A, Salvador-Rodriguez L et. al. [allmedx.com]

His presentation is well gro- ded in the basic sciences and in pathophysiology, an approach which brings a - markable coherence to the text. Correlative imaging concepts are also carefully th- aded through these chapters. [books.google.com]

The phenotypic characterization of ppGalNAc-T3 deficient mice combined with pathophysiological in vitro and in vivo studies will provided new insight in the molecular biology of mucin-type O-glycosylation and its intriguing role in ectopic calcium crystal [grantome.com]

Further research, including identification of specific molecules transported by ABCC6, is necessary for development of global, pathophysiology-related approaches to treat this currently intractable disorder. [pxe.org]

The destabilizing nature of these mutations provides new insight into the pathophysiology of TC and exemplifies the physiological importance of FGF23 in phosphate and vitamin D metabolism. [scienceopen.com]

Tumoral calcinosis revisited: pathophysiology and treatment. Rheumatol Int 2005;25:55e9. [17] Seyahi A, Atalar AC, Ergin HK. Tumoral calcinosis: clinical and biochemical aspects of a patient treated with vinpocetine. [myslide.es]

Get optimal test results with guidance on error detection, correction, and prevention as well as cost-effective test selection. [books.google.com]

We hypothesize that ppGalNAc-T3 deficiency is associated with a decrease in extracellular inorganic pyrophosphate (ePPi), which at normal levels prevents basic calcium phosphate crystal depositions in joints and other tissues. [grantome.com]

Once the diagnosis is established, complete surgical excision is the only option for cure and prevention of recurrence. References 1. Pakasa NM, Kalengayi RM. [archintsurg.org]

Conclusion Primary idiopathic Tumoural Calcinosis is still a disease of unknown cause but complete surgical resection is an effective method of management of this disese and it prevents recurrence. [oapublishinglondon.com]

Although delayed treatment of JDM has been mentioned as one of the risk factors which cause calcinosis, early treatment with systemic steroid has not been shown to ensure prevention of calcinosis in a previous prospective study 10. [synapse.koreamed.org]