Searchable abstracts of presentations at key conferences in endocrinology

ea0011p125 | Clinical case reports | ECE2006

Identification of two novel GALNT3 mutations in a patient with familial tumoral calcinosis (FTC)

Barbieri AM , Filopanti M , Bua G , Beck-Peccoz P

FTC (OMIM #211900) is a rare autosomal recessive disorder characterized by the presence of ectopic calcifications in the skin and subcutaneous tissues. These calcified masses look like irregular tumors which usually develop in a periarticular position, causing pain and often necessitating surgical excision. The majority of affected individuals have hyperphosphatemia due to increased renotubular reabsorption of phosphate and elevated levels of serum 1,25-dihydroxyvitamin D (cal...