Familial hyperphosphatemic tumoral calcinosis in an unusual and usual sites and dramatic improvement with the treatment of acetazolamide, sevelamer and topical sodium thiosulfate

J Pediatr Endocrinol Metab. 2021 Apr 6;34(6):813-816. doi: 10.1515/jpem-2020-0359. Print 2021 Jun 25.

Abstract

Objectives: Familial hyperphosphatemic tumoral calcinosis is a rare disorder characterized by hyperphosphatemia with recurrent ectopic periarticular calcifications, in addition to other visceral and vascular manifestations, without any inflammatory or neoplastic disorder. The available treatment strategies are limited. Here we report an eight year old female patient with recurrent lesions under the chin, and bilateral hips which are painful and improving of the size of the lesions and hyperphosphatemia.

Case presentation: The patient was started to the treatment with peroral acetazolamide however the lesion did not regress but a new lesion appeared then we added sevelamer and topical sodium thiosulfate treatment for three months. After the three months of the combination treatment the lesions, there were no pain, no hyperphospahtemia regression/disappearance of the lesions.

Conclusions: This combination treatment or topical sodium thiosulfate use only may be a novel treatment strategy for the patients prospective controlled trials are needed.

Keywords: acetazolamide; hyperphosphatemic tumoral calcinosis; sevelamer; sodium thiosulfate.

Publication types

  • Case Reports

MeSH terms

  • Acetazolamide / therapeutic use*
  • Administration, Topical
  • Anticonvulsants / therapeutic use
  • Antioxidants / administration & dosage
  • Calcinosis / complications
  • Calcinosis / drug therapy*
  • Calcinosis / pathology
  • Chelating Agents / therapeutic use
  • Child
  • Drug Therapy, Combination
  • Female
  • Humans
  • Hyperphosphatemia / complications
  • Hyperphosphatemia / drug therapy*
  • Hyperphosphatemia / pathology
  • Prognosis
  • Sevelamer / therapeutic use*
  • Thiosulfates / administration & dosage*

Substances

  • Anticonvulsants
  • Antioxidants
  • Chelating Agents
  • Thiosulfates
  • Sevelamer
  • sodium thiosulfate
  • Acetazolamide