Case Report

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

10.4274/jcrpe.galenos.2021.2020.0269

  • Hakan Doneray
  • Ayse Ozden
  • Kadri Gurbuz

Received Date: 12.11.2020 Accepted Date: 03.02.2021 J Clin Res Pediatr Endocrinol 0;0(0):0-0 [e-Pub] PMID: 33685073

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 the 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.

Keywords: Hyperphosphatemic familial tumoral calcinosis, sodium thiosulphate, acetazolamide, tumoral calcinosis, children