Fathi I, Sakr M (2014) Review of tumoral calcinosis: a rare clinico-pathological entity. World J Clin Cases 2(9):409–414

Article  PubMed  PubMed Central  Google Scholar 

Boyce AM, Lee AE, Roszko KL, Gafni RI (2020) Hyperphosphatemic tumoral calcinosis: pathogenesis, clinical presentation, and challenges in management. Front Endocrinol (Lausanne) 11:293

Article  PubMed  Google Scholar 

Ito N, Fukumoto S (2021) Congenital hyperphosphatemic conditions caused by the deficient activity of FGF23. Calcif Tissue Int 108(1):104–115

Article  CAS  PubMed  Google Scholar 

Chefetz I, Ben Amitai D, Browning S, Skorecki K, Adir N, Thomas MG et al (2008) Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. J Invest Dermatol 128(6):1423–1429

Article  CAS  PubMed  Google Scholar 

Olsen KM, Chew FS (2006) Tumoral calcinosis: pearls, polemics, and alternative possibilities. Radiographics 26(3):871–885

Article  PubMed  Google Scholar 

Ramnitz MS, Gafni RI, Collins MT (1993) Hyperphosphatemic Familial Tumoral Calcinosis. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/books/NBK476672/. Accessed 1 Dec 2023

Murad MH, Sultan S, Haffar S, Bazerbachi F (2018) Methodological quality and synthesis of case series and case reports. BMJ Evid Based Med 23(2):60–63

Article  PubMed  PubMed Central  Google Scholar 

Evans JM, Roberts CC, Lidner TK (2008) Tumoral calcinosis causing bilateral thigh pain. Radiol Case Rep 3(2):206

Article  PubMed  Google Scholar 

Tiwari V, Zahra F (2023) Hyperphosphatemic tumoral calcinosis. In: StatPearls. StatPearls Publishing, Treasure Island (FL)

Lingappa L, Ichikawa S, Gray A, Acton D, Evans M, Madarasu R et al (2019) An unusual combination of neurological manifestations and sudden vision loss in a child with familial hyperphosphatemic tumoral calcinosis. Ann Indian Acad Neurol 22(3):327–331

Article  PubMed  PubMed Central  Google Scholar 

Ahmed S, Saeed A, Farooq S, Yaqoob Z, Zohra FT, Waqas M (2022) Long follow-up of multiple recurrent calcific masses—a rare case report of hyperphosphatemic familial tumoral calcinosis. J Univ Med Dental Coll 13(2):399–402

Google Scholar 

Alves C, Lima R (2011) Hyperphosphatemic tumoral calcinosis: a 10-year follow-up. J Pediatr Endocrinol Metab 24(1–2):25–27

PubMed  Google Scholar 

Balachandran K, Kamalanathan S, Sahoo JP, Das AK, Halanaik D (2014) Differential response of idiopathic sporadic tumoral calcinosis to bisphosphonates. Indian J Endocrinol Metab 18(4):521–525

Article  CAS  PubMed  PubMed Central  Google Scholar 

Baldursson H, Evans EB, Dodge WF, Jackson WT (1969) Tumoral calcinosis with hyperphosphatemia. A report of a family with incidence in four siblings. J Bone Joint Surg Am 51(5):913–925

Article  CAS  PubMed  Google Scholar 

Blay P, Fernández-Martínez JM, Díaz-López B (2001) Vertebral involvement in hyperphosphatemic tumoral calcinosis. Bone 28(3):316–318

Article  CAS  PubMed  Google Scholar 

Boal RL, Starzyk B, Coles J, Owen C, Tse Y (2020) Hyperphosphatemic familial tumoral calcinosis complicated by pica. Arch Dis Child. Sep 25;archdischild-2020–319941.

Carmichael KD, Bynum JA, Evans EB (2009) Familial tumoral calcinosis: a forty-year follow-up on one family. J Bone Joint Surg Am 91(3):664–671

Article  PubMed  Google Scholar 

Chakhtoura M, Ramnitz MS, Khoury N, Nemer G, Shabb N, Abchee A et al (2018) Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature. Osteoporos Int 29(9):1987–2009

Article  CAS  PubMed  Google Scholar 

Chausmer A, Meyer W, Prince M (1982) Phosphate depletion therapy in two ectopic calcification syndromes. J Am Coll Nutr 1(3):275–283

Article  CAS  PubMed  Google Scholar 

Claramunt-Taberner D, Bertholet-Thomas A, Carlier MC, Dijoud F, Chotel F, Silve C et al (2018) Hyperphosphatemic tumoral calcinosis caused by FGF23 compound heterozygous mutations: what are the therapeutic options for a better control of phosphatemia? Pediatr Nephrol 33(7):1263–1267

Article  PubMed  Google Scholar 

Clarke E, Swischuk LE, Hayden CK Jr (1984) Tumoral calcinosis, diaphysitis, and hyperphosphatemia. Radiology 151(3):643–646

Article  CAS  PubMed  Google Scholar 

Dauchez A, Souffir C, Quartier P, Baujat G, Briot K, Roux C. Hyperphosphatemic familial tumoral calcinosis with Galnt3 Mutation: transient response to anti-interleukin-1 treatments. JBMR Plus [Internet]. 2019;3(7). https://www.scopus.com/inward/record.uri?eid=2-s2.0-85085067248&doi=10.1002%2fjbm4.10185&partnerID=40&md5=58112f56021e5f2d5c8fb0a89839fb03

Döneray H, Özden A, Gürbüz K (2022) The 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. JCRPE J Clin Res Pediatr Endocrinol 14(2):239–243

Article  PubMed  Google Scholar 

Finer G, Price HE, Shore RM, White KE, Langman CB (2014) Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanisms. Am J Med Genet A 164A(6):1545–1549

Article  PubMed  Google Scholar 

Freedman JD, Novak R, Bratman Morag S, Avitan-Hersh E, Nikomarov D (2021) Bone involvement in hyperphosphatemic familial tumoral calcinosis: a new phenotypic presentation. Rambam Maimonides Med J 12(3).

Goldenstein PT, Neves PD, Balbo BE, Elias RM, Pereira AC, Onuchic LF et al (2018) Dialysis as a treatment option for a patient with normal kidney function and familial tumoral calcinosis due to a compound heterozygous FGF23 mutation. Am J Kidney Dis 72(3):457–461

Article  PubMed  PubMed Central  Google Scholar 

Guerra MG, Videira T, de Fonseca D, Vieira R, Dos Santos J, Pinto S (2020) Hyperphosphataemic familial tumoral calcinosis: case report of a rare and challenging disease. Scand J Rheumatol 49(1):80–81

Article  CAS  PubMed  Google Scholar 

Huang J, Cao LG, Zhang TR, Li SM, Meng QQ (2022) Primary hyperphosphatemic tumoral calcinosis: a case report. Osteoporos Int 33(1):309–312

Article  CAS  PubMed  Google Scholar 

Ichikawa S, Baujat G, Seyahi A, Garoufali AG, Imel EA, Padgett LR et al (2010) Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. Am J Med Genet A 152(4):896–903

Article  Google Scholar 

Jost J, Bahans C, Courbebaisse M, Tran TA, Linglart A, Benistan K et al (2016) Topical sodium thiosulfate: a treatment for calcifications in hyperphosphatemic familial tumoral calcinosis? J Clin Endocrinol Metab 101(7):2810–2815

Article  CAS  PubMed  Google Scholar 

Keskar VS, Imel EA, Kulkarni M, Mane S, Jamale TE, Econs MJ et al (2015) The case|ectopic calcifications in a child. Kidney Int 87(5):1079–1081

Article  PubMed  PubMed Central  Google Scholar 

Lammoglia JJ, Mericq V (2009) Familial tumoral calcinosis caused by a novel FGF23 mutation: response to induction of tubular renal acidosis with acetazolamide and the non-calcium phosphate binder sevelamer. Horm Res 71(3):178–184

CAS  PubMed  Google Scholar 

Lee AE, Hartley IR, Roszko KL, Vanek C, Gafni RI, Collins MT. Hyperphosphatemic familial tumoral calcinosis hidden in plain sight for 73 years: a case report. frontiers in dental medicine [Internet]. 2021;2. https://www.scopus.com/inward/record.uri?eid=2-s2.0-85158968520&doi=10.3389%2ffdmed.2021.719752&partnerID=40&md5=35f833f2789c4c6d991ef8488eff8779

Li WX, Stanek J (2023) Hyperphosphatemic familial tumoral calcinosis in a dancer. PM and R 15(5):685–687

Article  PubMed  Google Scholar 

Lufkin EG, Kumar R, Heath H 3rd (1983) Hyperphosphatemic tumoral calcinosis: effects of phosphate depletion on vitamin D metabolism, and of acute hypocalcemia on parathyroid hormone secretion and action. J Clin Endocrinol Metab 56(6):1319–1322

Article  CAS  PubMed  Google Scholar 

Mahjoubi F, Ghadir M, Samanian S, Heydari I, Honardoost M (2020) Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene. J Endocrinol Invest 43(8):1125–1130

Article  CAS  PubMed  Google Scholar 

Mallick S, Ahmad Z, Gupta AK, Mathur SR (2013) Hyperphosphatemic tumoral calcinosis. BMJ Case Rep [Internet]. https://www.scopus.com/inward/record.uri?eid=2-s2.0-84878666936&doi=10.1136%2fbcr-2013-008728&partnerID=40&md5=e6e93f158ac4fcb4283845874516f5fb