We present a patient with HFTC and a heterozygous mutation in GALNT3. Presenting problem: A 9-year Afro Caribbean old girl presented with a hot, swollen, tender mass of her right hip and buttock associated with several months of fatigue and pain. [bone-abstracts.org]

Methods In this report, we present two siblings; offspring of consanguineous parents. They presented with spontaneous bony pains not responding to NSAID and later on, that developed tender hard masses. [ard.bmj.com]

Another presentation is the hyperostosis-hyperphosphatemia syndrome characterized by recurrent long bone lesions [ 5 ]. Both presentations represent a continuous spectrum of the same disease and can occur in the same patient. [nature.com]

Most interesting thing about the case presented is its mode of presentation. The onset was very acute and at presentation it appeared to be infection. [ispub.com]

A multilobulated swelling with shiny overlying skin was present over the right shoulder [Figure 7]. [ijo.in]

• Pain

  Journal of Pain 6(2): 75-83, 2005 Family dysfunction: A comparison of chronic widespread pain and chronic localized pain. [eurekamag.com]

  Presenting problem: A 9-year Afro Caribbean old girl presented with a hot, swollen, tender mass of her right hip and buttock associated with several months of fatigue and pain. [bone-abstracts.org]

  Tumoral Calcinosis Causing Bilateral Thigh Pain Medicine Radiology case reports 2008 A 75-year-old female with bilateral thigh pain for several years secondary to soft tissue calcification is reported, which is a unique, but not uncommon, radiographic [semanticscholar.org]

  Some patients manifest recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement. [genecards.org]

• 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]

  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]

  He had been suffering from multiple, migratory large joint swellings. All the swellings spontaneously subsided following suppuration of chalky white material and scar formation except over the gluteal region. [ijo.in]

• Fever

  Detailed assessment is done for patients with problems such as fever, high blood pressure, diabetes, etc. The diagnostic tests are done based on the patient’s requirement, rather than running through lists of tests unnecessarily. [jaslokhospital.net]

  During this time the patient had no fever, weight loss, weakness, myalgias, pain or limitation of movement of the affected joints. She received two schemes of antibiotics without improvement. [elsevier.es]

  At first instance it appeared to be infection but the absence of fever, and general good health raised suspicion in our mind. There were no signs of tenosynovitis, palmer space infection or flexor sheath infection. [ispub.com]

• Localized Pain

  Journal of Pain 6(2): 75-83, 2005 Family dysfunction: A comparison of chronic widespread pain and chronic localized pain. [eurekamag.com]

  Calcifications are mainly found in the elbows and knees and can cause local pain, joint contracture and ulcers of the overlying skin. [elsevier.es]

• Weakness

  In contrast to negative or weak expression of ZEB2, tumor tissues displayed strong or moderate GALNT3 staining. [eprints.soton.ac.uk]

  It is an autoimmune disease characterized by a systemic vasculopathy with myositis, progressive muscle weakness and dermatological findings. [elsevier.es]

  As one would expect, pain and occasional numbness, paresthesia, and muscle weakness distal to the lesion are mostly associated with tumors of large size. [basicmedicalkey.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]

Treatment should be oriented in re-establishing calcium-phosphorus metabolism, and surgical treatment should be carried out for aesthetic and functional reasons. [elsevier.es]

Surgical excision is the general recommendation for treatment [ 16, 21, 22 ]. [oapublishinglondon.com]

[…] is considered to be the optimum treatment. [archintsurg.org]

PMID: 19188744 Prognosis Jost J, Bahans C, Courbebaisse M, Tran TA, Linglart A, Benistan K, Lienhardt A, Mutar H, Pfender E, Ratsimbazafy V, Guigonis V J Clin Endocrinol Metab 2016 Jul;101(7):2810-5. Epub 2016 May 10 doi: 10.1210/jc.2016-1087. [ncbi.nlm.nih.gov]

Outlook / Prognosis What is the outlook for someone with tumoral calcinosis? Most people with tumoral calcinosis enjoy full, active lives. It’s rare for the condition to cause serious health problems. [my.clevelandclinic.org]

The prognosis is usually bad. Calcinosis circumscripta has a benign course and occurs in middle-aged women. The deposits are small, nodular or streaky and affect the flexor tendon sheaths of hands and wrist. [ispub.com]

Cancer Res. (2004) [ Pubmed ] Low expression of polypeptide GalNAc N-acetylgalactosaminyl transferase-3 in lung adenocarcinoma: impact on poor prognosis and early recurrence. [wikigenes.org]

It is also important to follow-up these patients as the cardiovascular prognosis is poor due to accelerated vascular calcification. [elsevier.es]

To determine the molecular etiology of TC in these GALNT3-null patients, we analyzed serum levels of FGF23. [ashg.org]

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

[…] injury. 1, 5, 6, 8 Ectopic bone can develop from immature osteoid in a matter of weeks. 8 This clinical entity is still an enigma among scientists and clinicians, and current preclinical work has made slow but steady progress in our understanding of the etiology [jemds.com]

The etiology of tumoral calcinosis remains unknown. The presence of lesions around pressure points suggests the possibility of local trauma as a causative factor. [ijdvl.com]

This condition used to be considered a separate disorder, but it is now thought to be a mild variant of HFTC. https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis Etiology Chakhtoura M, Ramnitz MS, Khoury N, Nemer G, Shabb N [ncbi.nlm.nih.gov]

FTC: EPIDEMIOLOGICAL, CLINICAL, AND BIOCHEMICAL FEATURES As mentioned above, FTC has been mainly (but not exclusively) reported in Africa, the Middle-East, and in populations originating from these regions of the world. [yumpu.com]

Relevant External Links for FGF23 Genetic Association Database (GAD) FGF23 Human Genome Epidemiology (HuGE) Navigator FGF23 Atlas of Genetics and Cytogenetics in Oncology and Haematology: FGF23 No data available for Genatlas for FGF23 Gene Identification [genecards.org]

The Danish Study Group of Diabetes in Childhood and The Danish IDDM Epidemiology and Genetics Group [2]. [wikigenes.org]

This question has been the roadblock between understanding the genetic disorder and correcting the genetic disorder. [16] See also [ edit ] FINDbase (the Frequency of Inherited Disorders database) Genetic epidemiology List of genetic disorders Population [en.wikipedia.org]

Despite the high frequency of E-boxes on the genome and multiplicity of pathophysiological processes regulated during ZEB2-induced EMT, only a small fraction of ZEB2 targets have been identified so far. [eprints.soton.ac.uk]

8 Ectopic bone can develop from immature osteoid in a matter of weeks. 8 This clinical entity is still an enigma among scientists and clinicians, and current preclinical work has made slow but steady progress in our understanding of the etiology and pathophysiology [jemds.com]

Tumoral calcinosis revisited: pathophysiology and treatment. Rheumatol Int. 2005; 25(1):55-9. 7. Kim HS, Suh JS, Kim YH, Park SH. Tumoral calcinosis of the hand: three unusual cases with painful swelling of small joints. [oapublishinglondon.com]

Semin Nephrol 24 : 39 – 47 8 2005 Disorders of phosphate metabolism: autosomal dominant hypophosphatemic rickets, tumor induced osteomalacia, fibrous dysplasia and the pathophysiological relevance of FGF23. In:, eds. Vitamin D. 2nd ed. [academic.oup.com]

TSL:4 GALNT3-207 ENST00000437849.1 799 89aa ENSP00000391104 - H7BZS4 - 5' truncation in transcript evidence prevents annotation of the start of the CDS. [ensembl.org]

Sprecher Published 2009 in Biochimica et biophysica acta DOI: 10.1016/j.bbadis.2008.09.016 GALNT3 encodes UDP-N-acetyl-alpha-d-galactosamine: polypeptide N-acetylgalactosaminyl-transferarase 3 (ppGalNacT3), a glycosyltransferase which has been suggested to prevent [semanticscholar.org]

Prevention of Hypertension and Its Complications:. We wish you a warm welcome to The First European Meeting on Coronary Microcirculation. Găsiți tratamentul metodelor folclorice de hipertensiune. [dopisyqusobyg.tk]

For long term storage store at -20C in small aliquots to prevent freeze-thaw cycles. Concentration: Approximately 0.5mg/ml. Actual concentration varies with each lot. [avivasysbio.com]