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Familial Normophosphatemic Tumoral Calcinosis

Familial Tumoral Calcinosis


Presentation

  • 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]
  • In the present study, we describe a patient of Northern European origin displaying typical features of HFTC.[nature.com]
  • There are many conditions which present with a similar clinicoradiological picture like 2.[myslide.es]
Short Stature
  • […] of Albright hereditary osteodystrophy incl short stature, round facies, brachydactyly, other skeletal anomalies Progressive osseous heteroplasia (see Disorders of GNAS Inactivation ) GNAS See footnote 1 Subcutaneous ossifications Normal blood phosphorus[ncbi.nlm.nih.gov]
Fatigue
  • 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]
Vomiting
  • Hypervitaminosis D Skin/subcutaneous calcinosis Low blood 1,25D levels Normal or low blood phosphorus Elevated blood calcium & renal calcium excretion Elevated 25-OH vitamin D Symptoms of hypercalcemia incl polyuria, polydipsia, confusion, anorexia, vomiting[ncbi.nlm.nih.gov]
Polydipsia
  • […] solutions at site of calcinosis) Hypervitaminosis D Skin/subcutaneous calcinosis Low blood 1,25D levels Normal or low blood phosphorus Elevated blood calcium & renal calcium excretion Elevated 25-OH vitamin D Symptoms of hypercalcemia incl polyuria, polydipsia[ncbi.nlm.nih.gov]
Dysphagia
  • Elevated inflammatory markers (ESR/CRP) Normal blood phosphorus Other features of dermatomyositis (proximal muscle weakness, interstitial pulmonary disease, dysphagia, polyarthritis, Gottron's papules, heliotrope eruption) Other features of systemic sclerosis[ncbi.nlm.nih.gov]
Papular Rash
  • rash Fibrodysplasia ossificans progressiva (OMIM 135100 ) ACVR1 AD Subcutaneous ossifications that can impair joint mobility Normal blood phosphorus Gradual replacement of muscle tissue & connective tissue by bone starting w/neck & shoulders & proceeding[ncbi.nlm.nih.gov]
Hyperpigmentation
  • […] from HFTC Biochemical Clinical Porphyria cutanea tarda UROD AD Dystrophic calcification in areas of pseudoscleroderma Ulcerated areas at pseudoscleroderma sites in some Normal blood phosphorus Blistering & skin fragility w/sun exposure Hypertrichosis/ hyperpigmentation[ncbi.nlm.nih.gov]
Skin Thickening
  • ESR/CRP) Normal blood phosphorus Other features of dermatomyositis (proximal muscle weakness, interstitial pulmonary disease, dysphagia, polyarthritis, Gottron's papules, heliotrope eruption) Other features of systemic sclerosis (arthralgia, myalgia, skin[ncbi.nlm.nih.gov]
Blurred Vision
  • One had symptomatic sudden onset of blurred vision attributed to choroidal neovascularization secondary to angioid streaks 14 years after the initial diagnosis of HFTC [ McGrath et al 2010 ].[ncbi.nlm.nih.gov]
Osteoporosis
  • El Hajj Fuleihan Osteoporosis International (2018) Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization L. Masi, G. Beltrami, S.[nature.com]
Brachydactyly
  • Subcutaneous ossifications Elevated blood parathyroid hormone due to end-organ resistance Low blood calcium, obesity Resistance to other hormones incl TSH, LH/FSH, GHRH Clinical features of Albright hereditary osteodystrophy incl short stature, round facies, brachydactyly[ncbi.nlm.nih.gov]
Myalgia
  • , skin thickening/hardening, sclerodactyly, Raynaud phenomenon, esophageal dysmotility, telangiectasia, & pulmonary, renal, or cardiac disease) Other features of systemic lupus erythematosus (arthralgia, myalgia, fever, malar erythema, Raynaud phenomenon[ncbi.nlm.nih.gov]
Proximal Muscle Weakness
  • Elevated inflammatory markers (ESR/CRP) Normal blood phosphorus Other features of dermatomyositis (proximal muscle weakness, interstitial pulmonary disease, dysphagia, polyarthritis, Gottron's papules, heliotrope eruption) Other features of systemic sclerosis[ncbi.nlm.nih.gov]

Workup

  • 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]
Muscle Calcification
  • Computed tomography (CT) scan showing calcifications in an adult with HFTC including shoulder and hip soft tissue calcifications (white arrows), aortic calcification (dashed arrow), papillary muscle calcification (black arrow), and submucosal gut calcifications[ncbi.nlm.nih.gov]
Thrombocytosis
  • 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]
Human Papillomavirus
  • Low-risk type human papillomavirus (HPV) 6 and 11 infection causes recurrent respiratory papillomatosis (RRP) and genital warts.[gulfdoctor.net]

Treatment

  • 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]
  • Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • 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]

Etiology

  • 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]
  • Introduction Idiopathic tumoral calcinosis is a rare benign clinical condition of unknown etiology presenting as periarticular soft tissue calcifications. Symptoms and complications due to this condition are rarely seen.[myslide.es]

Epidemiology

  • 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[anvita.info]
  • Further study will focus on epidemiology in Asia, the mutations in genomics and the variance between Asian and Caucasian patients.[jmedicalcasereports.biomedcentral.com]
  • 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]
  • We sought to describe the epidemiology, clinical and dermoscopic features, and natural history of genital nevi in pediatric patients. We reviewed charts of 1159 children given the diagnosis of melanocytic nevi over 11 years.[allmedx.com]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • 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]
  • Pathophysiology Deficiency of or resistance to FGF23 leads to hyperphosphatemia resulting in increased renal phosphate reabsorption and elevated or inappropriately normal 1,25D production, which promotes gastrointestinal absorption of phosphorus and calcium[ncbi.nlm.nih.gov]
  • 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]

Prevention

  • 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]
  • No treatment regimen appears to consistently or universally decrease lesion size or prevent progression or recurrence of lesions after surgery. Tumoral calcinosis Low-phosphate diet.[ncbi.nlm.nih.gov]
  • 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]

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