A case of familial tumoral calcinosis in a neonate and review of the literature

Background: Tumoral calcinosis occurs in two distinct clinical forms. The sporadic form is secondary to chronic renal failure, hyperparathyroidism, milky-alkali syndrome, hypervitaminosis D and other systemic disorders. The familial form is extremely rare (around 100 cases worldwide) and affects patients in the first or second decade of life. It is believed to be transmitted in a dominant autosomal manner with variable clinical expressivity and is manifested as hyperphosphatemia, elevated serum 1,25-dihydroxyvitamin D with juxta-articular tumorous calcifications. Moreover, the theory of a unique dental malformation serving as a screening marker for clinically non-apparent affected individuals is revisited and reconfirmed. Case report: We present a case of a Caucasian male newborn, as well as a review of the literature with differential diagnostic considerations and their therapeutical implications.