TY - JOUR TI - 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 AB - Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disorder. Topical sodium thiosulfate (STS) and acetazolamide can be a safe and effective treatment for patients who do not respond to conventional therapy for ectopic calcifications. We report the successful treatment of deep soft-tissue calcifications with topical STS and acetazolamide in a boy diagnosed with HFTC due to a novel homozygous mutation of FGF23. AU - GÜRBÜZ, KADRİ AU - Doneray, Hakan AU - OZDEN, AYSE DO - 10.4274/jcrpe.galenos.2021.2020.0269 PY - 2022 JO - Journal of Clinical Research in Pediatric Endocrinology VL - 14 IS - 2 SN - 1308-5727 SP - 239 EP - 243 DB - TRDizin UR - http://search/yayin/detay/530913 ER -