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.


METHODS
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.
Polykandriotis
Elias P
EP
Department of Plastic and Hand Surgery, Chirurgische Klinik mit Poliklinik, University of Erlangen-Nuremberg, Krankenhausstrasse 12, 91054 Erlangen, Germany. elias.poly@chir.imed.uni-erlangen.de
Beutel
Florenz K
FK
Horch
Raymund E
RE
Grünert
Jörg
J
D002114:Calcinosis / Q000097:blood / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002118:Calcium / Q000097:blood; D006225:Hand; D006801:Humans; D007223:Infant; D008297:Male; D010710:Phosphates / Q000097:blood
D010710:Phosphates; D002118:Calcium