A calcinose tumoral é uma anomalia do metabolismo fosfocálcico, particularmente em faixas etárias mais jovens e caracterizada pela presença de massas calcificadas nas regiões justa-articulares (quadril, cotovelo, tornozelo e escápula) sem envolvimento articular. Histologicamente, as lesões apresentam necrobiose de colágeno, seguida de formação de cisto e resposta de corpo estranho com calcificação. Duas formas de calcinose tumoral foram descritas: calcinose tumoral normocalcêmica e calcinose tumoral familiar.
Introdução
O que você precisa saber de cara
A calcinose tumoral é uma anomalia do metabolismo fosfocálcico, particularmente em faixas etárias mais jovens e caracterizada pela presença de massas calcificadas nas regiões justa-articulares (quadril, cotovelo, tornozelo e escápula) sem envolvimento articular. Histologicamente, as lesões apresentam necrobiose de colágeno, seguida de formação de cisto e resposta de corpo estranho com calcificação. Duas formas de calcinose tumoral foram descritas: calcinose tumoral normocalcêmica e calcinose tumoral familiar.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 24 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 55 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
4 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor (PubMed:16638743, PubMed:31932717, PubMed:8663203, PubMed:9295285). Has activity toward HIV envelope glycoprotein gp120, EA2, MUC2, MUC1A and MUC5AC (PubMed:8663203, PubMed:9295285). Probably glycosylates fibronectin in vivo (PubMed:9295285). Glycosylates FGF23 (PubMed:16638743, PubMed:31932717)
Golgi apparatus, Golgi stack membrane
Tumoral calcinosis, hyperphosphatemic, familial, 1
A form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement.
Double-stranded nucleic acid binding that acts as an antiviral factor by playing an essential role in the formation of cytoplasmic antiviral granules (PubMed:25428864, PubMed:28157624). May play a role in the inflammatory response to tissue injury and the control of extra-osseous calcification, acting as a downstream target of TNF signaling. Involved in the regulation of EGR1, in coordination with RGL2. May be involved in endosome fusion
Cytoplasm
Tumoral calcinosis, normophosphatemic, familial
An uncommon, life-threatening disorder characterized by progressive deposition of calcified masses in cutaneous and subcutaneous tissues. Serum phosphate levels are normal. Clinical features include painful calcified ulcerative lesions and massive calcium deposition in the mid- and lower dermis, severe skin and bone infections, erythematous papular skin eruption in infancy, conjunctivitis, and gingivitis. NFTC shows a striking resemblance to acquired dystrophic calcinosis, in which tissue calcification occurs as a consequence of tissue injury/inflammation.
May have weak glycosidase activity towards glucuronylated steroids. However, it lacks essential active site Glu residues at positions 239 and 872, suggesting it may be inactive as a glycosidase in vivo. May be involved in the regulation of calcium and phosphorus homeostasis by inhibiting the synthesis of active vitamin D (By similarity). Essential factor for the specific interaction between FGF23 and FGFR1 (By similarity) The Klotho peptide generated by cleavage of the membrane-bound isoform may
Cell membraneApical cell membraneSecreted
Tumoral calcinosis, hyperphosphatemic, familial, 3
A form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement.
Regulator of phosphate homeostasis (PubMed:11062477). Inhibits renal tubular phosphate transport by reducing SLC34A1 levels (PubMed:11409890). Up-regulates EGR1 expression in the presence of KL (By similarity). Acts directly on the parathyroid to decrease PTH secretion (By similarity). Regulator of vitamin-D metabolism (PubMed:15040831). Negatively regulates osteoblast differentiation and matrix mineralization (PubMed:18282132)
Secreted
Hypophosphatemic rickets, autosomal dominant
A disease characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses.
Variantes genéticas (ClinVar)
566 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 43 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
34 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Calcinose tumoral
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Publicações mais relevantes
Marked regression of calcinosis with canakinumab in hyperphosphatemic familial tumoral calcinosis.
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disease caused by pathogenic variants in genes involved in phosphate homeostasis, and characterized by elevated serum phosphate levels and the development of ectopic calcifications. Management typically includes phosphate-lowering strategies and, when clinically necessary, surgical debulking of calcifications. Inflammatory flares occur variably and remain poorly understood. We report the case of a 27-yr-old woman with HFTC due to a homozygous GALNT3 mutation, who experienced recurrent painful flares, elevated inflammatory markers, and progressive calcinosis. Based on the hypothesis that HFTC may behave like an autoinflammatory syndrome, the patient was treated with canakinumab, an anti-interleukin-1 antibody, with 7 yr of follow-up to date. The treatment led to rapid and sustained clinical and biological remission, significant regression of calcified lesions without surgical intervention, and demonstrated good safety.
A Large Deletion With a Large Impact: Homozygous 5,600 bp Deletion of the GALNT3 Gene Causing Hyperphosphatemic Tumoral Calcinosis.
Hyperphosphatemic familial tumoral calcinosis (HTC) is a rare disease caused by autosomal recessive loss of function variants in the genes encoding fibroblast growth factor 23 (FGF-23), Klotho, or GalNAc-T3. This results in reduced phosphate excretion in the renal proximal tubule, leading to hyperphosphatemia. The clinical manifestations of HTC are mainly periarticular calcifications accompanied by pain and disability, inflammation, and dental problems. Inactive forms or reduced levels of FGF-23 or resistance to the FGF-23/Klotho complex are the main pathophysiologic characteristics underlying this disease. Treatment options to reduce blood phosphate levels have only been studied in case reports and small cohorts, with positive effects from phosphate binders, acetazolamide, anti-inflammatory drugs, probenecid, nicotinamide, and sodium thiosulfate. In this report, we present the case of a 50-year-old woman with a large (at least 5,600 base pair) deletion in the gene encoding for GalNAc-T3 (GALNT3) who experienced bone pain during childhood and calcifications of her lower limbs at least since her mid-thirties. Intragenic GALNT3 copy number variants have, to our knowledge, not yet been described as a cause of HTC.
Late diagnosis of hyperphosphatemic familial tumoral calcinosis in an adult male: lessons from a misclassified case.
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disorder caused by multiple genetic mutations; all leading to reduced FGF23 function. It is characterised by hyperphosphatemia, ectopic calcifications, and signs of systemic inflammation. We describe a case of a 33-year-old male patient, previously diagnosed to have tumoral calcinosis due to multiple calciferous masses, who presented with polyarthritis involving the joints of the hands. He was managed by multiple surgical resections, after which the masses and symptoms recurred. He lost follow-up for 16 years before presenting to our clinic. The identification of elevated serum phosphate levels and a sibling with similar symptoms guided the diagnosis of HFTC. The patient was started on a low phosphate diet, sevelamer, and acetazolamide, and was instructed to avoid calcium and vitamin D supplements. Intravenous Zoledronic Acid was also given. The patient reported improvement in his symptoms in the follow-up visits.
Slipped Capital Femoral Epiphysis in a Case of Hyperphosphatemic Familial Tumoral Calcinosis: A Case Report.
An Indian girl, diagnosed with osteoid osteoma of tibia and chronic recurrent multifocal osteomyelitis at the age of 6 years, presented 3 years later with slipped capital femoral epiphysis (SCFE) and was found to have a mutation in the GALNT3 gene associated with hyperphosphatemic familial tumoral calcinosis. She underwent in situ screw fixation with prophylactic pinning of the other hip. At a 2-year follow-up, the patient had a good range of motion and no radiological signs of osteonecrosis of the femoral head. GALNT3 gene mutation with SCFE is a previously unreported association, emphasizing the need for a multidisciplinary approach.
Periarticular Hyperphosphatemic Familial Tumoral Calcinosis in a Saudi Patient: A Case Report.
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disorder characterized by ectopic calcifications in periarticular soft tissues due to mutations in genes such as GALNT3, FGF23, or KL, leading to FGF23 deficiency or resistance and subsequent hyperphosphatemia. This study describes a 12-year-old girl from Jazan, Saudi Arabia, who presented with progressive right hip pain and swelling, initially managed as an infection. Imaging revealed periarticular calcifications, and laboratory tests confirmed hyperphosphatemia with normal calcium and parathyroid hormone levels. Genetic testing identified a homozygous pathogenic variant in GALNT3, confirming HFTC type 1. Recurrence occurred 1.5 years later in the right elbow, with similar radiographic findings. Further evaluation via CT demonstrated basal ganglia and parotid gland calcifications, highlighting systemic involvement. Management included complete surgical resection of calcific deposits, followed by acetazolamide (500 mg twice daily) and a low-phosphorus diet. Over one year of multidisciplinary follow-up, no recurrence was observed. Histopathology revealed microcalcifications with a giant cell reaction, consistent with HFTC. HFTC's diagnosis relies on clinical, biochemical (hyperphosphatemia), and radiological findings (multilobulated periarticular calcifications), supplemented by genetic testing. Treatment involves phosphate-lowering strategies (dietary restriction, phosphate binders, acetazolamide) and surgical excision for symptomatic lesions. This study underscores the importance of early recognition, genetic confirmation, and a multidisciplinary approach to prevent complications and recurrence.
Publicações recentes
Research progress in the role and mechanism of GALNT3 in human diseases (Review).
Clinical and Functional Characterization of Novel GALNT3 Mutations in a Chinese Child with Hyperphosphatemic Familial Tumoral Calcinosis.
Marked regression of calcinosis with canakinumab in hyperphosphatemic familial tumoral calcinosis.
A Large Deletion With a Large Impact: Homozygous 5,600 bp Deletion of the GALNT3 Gene Causing Hyperphosphatemic Tumoral Calcinosis.
Late diagnosis of hyperphosphatemic familial tumoral calcinosis in an adult male: lessons from a misclassified case.
📚 EuropePMC94 artigos no totalmostrando 67
Marked regression of calcinosis with canakinumab in hyperphosphatemic familial tumoral calcinosis.
JBMR plusA Large Deletion With a Large Impact: Homozygous 5,600 bp Deletion of the GALNT3 Gene Causing Hyperphosphatemic Tumoral Calcinosis.
Kidney medicineLate diagnosis of hyperphosphatemic familial tumoral calcinosis in an adult male: lessons from a misclassified case.
Modern rheumatology case reportsSlipped Capital Femoral Epiphysis in a Case of Hyperphosphatemic Familial Tumoral Calcinosis: A Case Report.
JBJS case connectorThe Complexities and Challenges of Managing Genetic Causes of Hyperphosphataemia, a Case Report.
Journal of paediatrics and child healthPeriarticular Hyperphosphatemic Familial Tumoral Calcinosis in a Saudi Patient: A Case Report.
CureusUremic Pericarditis in a Patient With Hyperphosphatemic Familial Tumoral Calcinosis: Case Report.
Case reports in medicineHyperphosphatemic Familial Tumoral Calcinosis With a Large Hip Mass.
CureusCalcinosis cutis of the lower legs - hyperphosphatemic familial tumoral calcinosis in a patient with GALNT3 mutation.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGGALNT3 Mutation in Hyperphosphatemic Familial Tumoral Calcinosis - Novel Etiology of Secondary Amyloidosis.
Indian journal of nephrologyUnusual radiographic progression of tumoral calcinosis along the anterior cruciate ligament in an adolescent male.
Proceedings (Baylor University. Medical Center)Hyperphosphatemic Familial Tumoral Calcinosis.
Southern medical journalType 1 Hyperphosphatemic Familial Tumoral Calcinosis Associated With a Homozygous Variant Mutation in the GALNT3 Gene.
CureusFamilial tumoral calcinosis: a rare autosomal recessive disease.
BMJ case reportsA GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis.
Molecular genetics and metabolism reportsInherited phosphate and pyrophosphate disorders: New insights and novel therapies changing the oral health landscape.
Journal of the American Dental Association (1939)In vivo mapping of the mouse Galnt3-specific O-glycoproteome.
The Journal of biological chemistryStructural and molecular imaging-based characterization of soft tissue and vascular calcification in hyperphosphatemic familial tumoral calcinosis.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchNovel genetic mutation associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome treated with denosumab: a case report.
ReumatismoSpatial Atlas for Mapping Vascular Microcalcification Using 18F-NaF PET/CT: Application in Hyperphosphatemic Familial Tumoral Calcinosis.
Arteriosclerosis, thrombosis, and vascular biologyThree Siblings With a Rare Familial Hyperphosphatemia Syndrome: A Case Series.
CureusExpansion of Phenotypic Spectrum in Hyperphosphatemic Familial Tumoral Calcinosis.
Indian pediatricsA homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects.
Clinical geneticsCanakinumab in addition to phosphate-binding and phosphaturia-inducing therapy were effective in achieving remission in a child with a large familial calcinotic tumour.
Bone reportsA case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyHereditary dentin defects with systemic diseases.
Oral diseasesRare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchA novel FGF23 mutation in hyperphosphatemic familial tumoral calcinosis and its deleterious effect on protein O-glycosylation.
Frontiers in endocrinologyHyperphosphatemic familial tumoral calcinosis mimicking a cystic hemo-lymphangioma on MRI.
Radiology case reportsHyperphosphatemic familial tumoral calcinosis in a dancer.
PM & R : the journal of injury, function, and rehabilitationRecurrent Bilateral Lower Motor Neuron Type of Facial Palsy with Hearing Impairment: Hyperphosphatemic Familial Tumoral Calcinosis.
Journal of pediatric geneticsTherapeutic success of sodium thiosulfate in treating cutaneous calciphylaxis in a patient with hyperphosphataemic familial tumoral calcinosis.
The Australasian journal of dermatologyPTH and FGF23 Exert Interdependent Effects on Renal Phosphate Handling: Evidence From Patients With Hypoparathyroidism and Hyperphosphatemic Familial Tumoral Calcinosis Treated With Synthetic Human PTH 1-34.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchBone Involvement in Hyperphosphatemic Familial Tumoral Calcinosis: A New Phenotypic Presentation.
Rambam Maimonides medical journalA Cross-Sectional Cohort Study of the Effects of FGF23 Deficiency and Hyperphosphatemia on Dental Structures in Hyperphosphatemic Familial Tumoral Calcinosis.
JBMR plusThe Successful Treatment of Deep Soft-tissue Calcifications with Topical Sodium Thiosulphate and Acetazolamide in a Boy with Hyperphosphatemic Familial Tumoral Calcinosis due to a Novel Mutation in FGF23.
Journal of clinical research in pediatric endocrinologyA novel homozygous variant in exon 10 of the GALNT3 gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India.
Intractable & rare diseases researchHyperphosphatemic Tumoral Calcinosis: Pathogenesis, Clinical Presentation, and Challenges in Management.
Frontiers in endocrinologyDefective O-glycosylation of novel FGF23 mutations in a Chinese family with hyperphosphatemic familial tumoral calcinosis.
BoneHyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene.
Journal of endocrinological investigationCongenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23.
Calcified tissue internationalMolecular basis for fibroblast growth factor 23 O-glycosylation by GalNAc-T3.
Nature chemical biologyLoss of the disease-associated glycosyltransferase Galnt3 alters Muc10 glycosylation and the composition of the oral microbiome.
The Journal of biological chemistryRecessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis.
The Turkish journal of pediatricsHyperphosphatemic Familial Tumoral Calcinosis With Galnt3 Mutation: Transient Response to Anti-Interleukin-1 Treatments.
JBMR plusHyperphosphataemic familial tumoral calcinosis: case report of a rare and challenging disease.
Scandinavian journal of rheumatologyPhysiology of FGF23 and overview of genetic diseases associated with renal phosphate wasting.
Metabolism: clinical and experimentalAutoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies.
The Journal of clinical investigationHyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 Gene: Experience from Southern Turkey.
Journal of clinical research in pediatric endocrinologyHyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USAHyperphosphatemic tumoral calcinosis caused by FGF23 compound heterozygous mutations: what are the therapeutic options for a better control of phosphatemia?
Pediatric nephrology (Berlin, Germany)Dialysis as a Treatment Option for a Patient With Normal Kidney Function and Familial Tumoral Calcinosis Due to a Compound Heterozygous FGF23 Mutation.
American journal of kidney diseases : the official journal of the National Kidney FoundationGiantin-knockout models reveal a feedback loop between Golgi function and glycosyltransferase expression.
Journal of cell scienceEfficacy of intralesional sodium thiosulfate injections for disabling tumoral calcinosis: Two cases.
Seminars in arthritis and rheumatismInherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Current osteoporosis reportsSubmucosal Colonic Masses in a Patient With Familial Tumoral Calcinosis.
The American journal of gastroenterologyA Mutation in the Dmp1 Gene Alters Phosphate Responsiveness in Mice.
EndocrinologyIdentification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis.
Bone researchFGF23-S129F mutant bypasses ER/Golgi to the circulation of hyperphosphatemic familial tumoral calcinosis patients.
BonePhenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchDevelopment and Validation of a Simple Diagnostic Method to Detect Gain and Loss of Function Defects in Fibroblast Growth Factor-23.
Hormone research in paediatricsTopical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis?
The Journal of clinical endocrinology and metabolismSterile α Motif Domain Containing 9 Is a Novel Cellular Interacting Partner to Low-Risk Type Human Papillomavirus E6 Proteins.
PloS oneRoot anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC).
Oral surgery, oral medicine, oral pathology and oral radiologyFrom variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders.
World journal of clinical cases[Vascular Calcification - Pathological Mechanism and Clinical Application - . Regulation of mineral metabolism and mineralization by FGF23].
Clinical calciumHyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.
Current osteoporosis reportsAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Marked regression of calcinosis with canakinumab in hyperphosphatemic familial tumoral calcinosis.
- A Large Deletion With a Large Impact: Homozygous 5,600 bp Deletion of the GALNT3 Gene Causing Hyperphosphatemic Tumoral Calcinosis.
- Late diagnosis of hyperphosphatemic familial tumoral calcinosis in an adult male: lessons from a misclassified case.
- Slipped Capital Femoral Epiphysis in a Case of Hyperphosphatemic Familial Tumoral Calcinosis: A Case Report.
- Periarticular Hyperphosphatemic Familial Tumoral Calcinosis in a Saudi Patient: A Case Report.
- Research progress in the role and mechanism of GALNT3 in human diseases (Review).
- Clinical and Functional Characterization of Novel GALNT3 Mutations in a Chinese Child with Hyperphosphatemic Familial Tumoral Calcinosis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:53715(Orphanet)
- MONDO:0018891(MONDO)
- GARD:10877(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q7852683(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
