Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p32 | (1) | ICCBH2019

Successful use of oral acetazolamide in symptomatic subcutaneous calcifications in hyperphosphatemic tumoral calcinosis

Nadar Ruchi , Saraff Vrinda , Randell Tabitha , Ryan Fiona , Shaw Nick , Hogler Wolfgang

Introduction: Hyperphosphatemic familial tumoral calcinosis is a rare genetic disorder causing reduced FGF23 activity. Recurrent and occasionally disabling subcutaneous calcifications are major disease manifestations. We describe the successful use of acetazolamide in two cases presenting in childhood with a homozygous GALNT3 mutation.Case 1: A five year old girl developed tender subcutaneous calcifications in the right elbow which were surgically resect...