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Patients typically present with calcified soft tissue masses resulting from calcium phosphate deposits. Medical management with phosphate binders, a carbonic anhydrase inhibitor, in addition to limiting phosphorus intake, is the mainstay of treatment. This case serves to highlight the pathophysiology of a rare diagnosis of FTC and the efficacy of the limited therapeutic options available.<\/jats:p>","DOI":"10.1136\/bcr-2023-259455","type":"journal-article","created":{"date-parts":[[2024,10,12]],"date-time":"2024-10-12T00:50:14Z","timestamp":1728694214000},"page":"e259455","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Familial tumoral calcinosis: a rare autosomal recessive disease"],"prefix":"10.1136","volume":"17","author":[{"given":"Heberth","family":"Moran","sequence":"first","affiliation":[{"name":"Endocrinology, Rutgers New Jersey Medical School, Newark, New Jersey, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monique","family":"Malvar","sequence":"additional","affiliation":[{"name":"Endocrinology, Rutgers New Jersey Medical School, Newark, New Jersey, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simge","family":"Yuksel","sequence":"additional","affiliation":[{"name":"Endocrinology, Rutgers New Jersey Medical School, Newark, New Jersey, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Bleich","sequence":"additional","affiliation":[{"name":"Endocrinology, Rutgers New Jersey Medical School, Newark, New Jersey, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,10,11]]},"reference":[{"key":"2025082712020540000_17.10.e259455.1","doi-asserted-by":"crossref","first-page":"239","DOI":"10.4274\/jcrpe.galenos.2021.2020.0269","article-title":"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","volume":"14","author":"D\u00f6neray","year":"2022","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"2025082712020540000_17.10.e259455.2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-2302"},{"key":"2025082712020540000_17.10.e259455.3","doi-asserted-by":"publisher","DOI":"10.1038\/ng1358"},{"key":"2025082712020540000_17.10.e259455.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.berh.2011.10.020"},{"key":"2025082712020540000_17.10.e259455.5","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2009.337"},{"key":"2025082712020540000_17.10.e259455.6","doi-asserted-by":"crossref","first-page":"409","DOI":"10.12998\/wjcc.v2.i9.409","article-title":"Review of tumoral calcinosis: A rare clinico-pathological entity","volume":"2","author":"Fathi","year":"2014","journal-title":"World J Clin Cases"},{"key":"2025082712020540000_17.10.e259455.7","doi-asserted-by":"publisher","DOI":"10.3949\/ccjm.88a.20084"},{"key":"2025082712020540000_17.10.e259455.8","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2020.00293","article-title":"Hyperphosphatemic Tumoral Calcinosis: Pathogenesis, Clinical Presentation, and Challenges in Management","volume":"11","author":"Boyce","year":"2020","journal-title":"Front Endocrinol (Lausanne)"},{"key":"2025082712020540000_17.10.e259455.9","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1097\/MNH.0000000000000145","article-title":"FGF23 regulation of renal tubular solute transport","volume":"24","author":"Erben","year":"2015","journal-title":"Curr Opin Nephrol Hypertens"},{"key":"2025082712020540000_17.10.e259455.10","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2870"},{"key":"2025082712020540000_17.10.e259455.11","doi-asserted-by":"crossref","unstructured":"Takashi Y , Fukumoto S . 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