Keywords:
Metabolic disorders, Endocrine disorders, Calcifications / Calculi, Diagnostic procedure, Ultrasound, Plain radiographic studies, CT, Musculoskeletal system, Musculoskeletal soft tissue, Musculoskeletal bone
Authors:
N. S. Sideri1, V. Bizimi2, O. Moschovaki Zeiger2, E. Vekri1, O. Papakonstantinou2; 1Chaidari/GR, 2Athens/GR
DOI:
10.26044/essr2019/P-0102
Background
Tumoral calcinosis (TC) is a rare disorder of uncertain etiology,
characterized by calcific tumorous soft-tissue masses surrounding extensor surfaces of large joints,
typically hips,
elbows and shoulders.
Two subtypes have been described,
which are histologically and radiologically indistinguishable; primary/familial type (normo-phosphatemic or hyper-phosphatemic),
due to gene mutation,
and secondary TC,
associated with metabolic abnormalities,
typically chronic renal failure (patients undergoing haemodialysis) and associated secondary/tertiary hyperparathyroidism.
The majority of patients with familial TC present with the disease before the second decade of life.
Lesions appear slow-growing,
progressing over the years.
During disease progression,
increase in mass size can cause limitation of movement,
compression of adjacent neural/vascular structures and eventually ulceration seeping a chalky exudate.
Primary treatment for familial type is early surgical excision,
with massive lesions requiring extensive surgery and reconstruction.
Pre-surgical medical treatment,
including phosphate binding chelating agents and acetazolamide,
could also be considered,
especially in hyper-phosphatemic cases.
Treatment of secondary TC is mainly based on dietary phosphate restriction,
phosphate-binders administration and parathyroidectomy.
Renal transplantation may also be needed in secondary TC,
while excision of calcific masses is a final option in cases of exaggerated movement limitation and for the management of significant complications.
Unfortunately,
recurrence is frequent.
[1,
2]