This was considered to be consistent with Tumoral Calcinosis in the setting of long-standing renal disease.
Tumoral Calcinosis is an uncommon familial disease secondary to a mutation in FGF23 (Fibroblast Growth Factor 23), KL (Klotho) gene and the UDP-Nacetyl-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3.
Uremic tumoral calcinosis of the foot mimicking infection.
Idiopathic sporadic tumoral calcinosis of the hip: successful oral bisphosphonate therapy.
Uraemic tumoral calcinosis is an uncommon occurrence in patients with chronic renal failure who are on long-term haemodialysis therapy, and falls within the broad definition of tumoral calcinosis.
If the radiologist is unfamiliar with the radiological patterns of tumoral calcinosis or disease processes that mimic the condition, then diagnosis and treatment might be delayed or the patient may be subjected to unwarranted invasive procedures.
Mutations in GALNT3, encoding a protein involved in 0-linked glycosylation, cause familial tumoral calcinosis.
6] Nonstandard abbreviafions: CDG, congenital disorders of glycosylation; TIEF, transferrin isoelectric focusing; ApoC-III, apolipoprotein C-III; IEF, isoelectric focusing; Ga1NAc, N-acetylgalactosamine; NeuAc, sialic acid; FTC, familial tumoral calcinosis (MIM 211900); HIBM, hereditary inclusion body myopathy (MIM 600737); MEB, muscle-eye-brain disease (MIM 253280); HUS, hemolyfic uremic syndrome; HGPS, Hutchinson Gilford progeria syndrome (MIM 176670), F5FSD, a combined deficiency of factor V and factor VIII (MIM 227300); ER, endoplasmic reficulum; COG7, conserved oligomeric Golgi complex; CMP-NeuAc: cytidine 5'monophospho-N-acetylneuraminic acid; GNE/MNK, uridine-5'-diphosphate-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase; GALNT3, UDP-Ga1NAc transferase 3.
Pathogenesis: Tumoral calcinosis
is an inborn error in calcium metabolism which in most cases appear to be inherited as Autosomal Recessive pattern as studies reveal normal calcium levels but in many cases there is elevation of serum phosphates levels probably, the result of increased tubular reabsorption or reduced renal excretion of phosphorus.
may be defined as metastatic periarticular calcification that can be found in a wide variety of conditions such as primary hyperthyroidism and connective tissue diseases, as well as an idiopathic form.
of the foot with unusual presentation in an 11 years old boy: a case report and review of literature.
The soft-tissue lesions of tumoral calcinosis
are typically lobulated, well-demarcated calcifications that are most often distributed along the extensor surfaces of large joints.