Journal of the Louisiana State Medical Society
types: (1) Primary normophosphatemic Tumoral Calcino- sis; in this type, patients have normal serum calcium and phosphate levels. (2) Primary hyperphosphatemic Tumoral Calcinosis characterized by a defect in phosphate resorption and (3) Secondary Tumoral Calcinosis: these patients have a concurrent disease that causes soft tissue calcification such as chronic renal failure with a secondary hypervitaminosis D, hyperparathyroidism and bone destruction. 5 Imaging and biopsy may confirm the diagnosis revealing yellow material containing calcium hydroxyapatite. Imaging studies include Radiographic examinations, Computer Tomography (CT), andMagnetic Resonance (MR) which can demonstrate dense nodular masses commonly withmultiple fluid levels represented cystic structures with sedimentation of calciumwhichmay communicate with the bursa of the adjacent joint. MR T1- weighted imaging shows inhomogenous lesions with low signal intensity; whereas on T2 weighted MR imaging, the lesion appears with a diffuse nodular pattern with areas of high intensity associated with signal low intensity or signal voids. Other entities that can have similar imaging findings and that should be considered in the differential diagnosis of Tumoral Calcinosis include: Calcinosis Universalis, Calcinosis Cirumscripta, Calcific Tendonitis, Synovial Osteochondromatosis, Synovial Sarcoma, Osteosarcoma, Myossitis Ossificans, Tophaceous Gout and Calcific Myo- necrosis. In 1989, Kaplan showed a correlation between Tumoaral Calcinosis and pseudoxanthoma elasticum 6 and in 1990, Martinez et al described an association between Tumoral Calcinosis and Calcific Myelitis. 7 Tumoral Calcinosis treatment is based on its underlying cause, and is a combination between surgical excision and phosphate decrease secondary to acetazolamide administra- tion. 1 Acetazolamide increases calcium-phosphate solubility by lowering the systemic pH, resulting in an increase of phosphate excretion.1 Surgical excision is dependent on the patient’s symptoms due to compromise of the adjacent struc- tures and further surgery for recurrence is recommended. 1 REFERENCES 1. Finer G, Price HE, Shore RM, et al. Hyperphosphatemicfamilial tumoral calcinosis: Response to acetazolamide and postulated mechanisms. Am J Med Genet. PartA 2014 ; 164A:1545–1549. 2. Jeong JJ, Ji JH, Shafi M. Hallux valgus deformity of foot with tumoral calcinosis: An unusual presentation . Foot and Ankle Surg. 2014; 20:15-18. 3. Topaz O, Shurman DL, Bergman R, et al. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet 2004; 36:579–581. 4. Mockel G, But tgerei t F, Labs K, Tumoral Calcinos i s revisited:patophysiology and treatment. Rheumatol Int 2005; 25:55-59.
Radiology Case of the Month Presentations are on pages 264 and 265
RADIOLOGICAL DIAGNOSIS: Tumoral Calcinois with Fluid-Fluid Levels
IMAGING FINDINGS In the first case, CT of the left hip with contrast revealed an amorphus calcified soft tissuemass withmulticystic fluid levels located in the left proximal thigh Figure 1A, B and C (arrows) consistent with the clinical setting as above with tumoral calcinosis secundary to end stage renal disease . In the second case, prior chest radiographs demon- strated a small nonspecific ill-defined dense mass projected over the right upper chest wall. Follow-up radiographs seven years later revealed marked enlargement of the mass which appears to be lobulated and nodular with small fluid levels Figure 2 A and B (arrows). This was considered to be consistent with Tumoral Calcinosis in the setting of long- standing renal disease. DISCUSSION 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-acetylgalactosaminyltrans- ferase 3 (GALNT3) gene. 1 Tumoral Calcinosis was first described by Giard and Duret in 1898 and in 1943, Inclan et al named this entity as Tumoral Calcinosis Characterized by densely, lobular calcified benign masses in soft tissue of the extensor surface of a bursa with characteristic imaging of amorphous, multilobulated cystic calcifications in the musculoskeletal system commonly periarticularly. 2 Currently, there are more than 300 cases of tumoral calcinosis have been described. 3 It is most frequently seen in African Americans without sex predominance and usu- ally appearing in childhood or young adulthood at the first and second decade of life. Symptomatic manifestation is uncommon unless there is compressive neuropathy. Large periarticular lesions can result in reduced range of motion. 1 The most common locations of Tumoral Calcinosis are the shoulder, hip, elbow, foot and wrist, but the temporoman- diular joint, spine, hand and knee can also be involved. The physical morbidity is based on repetitive trauma generating reparative impairment and initiation of osteo- clastic activity. 4 Smack et al, classified this entity into three
266 J La State Med Soc VOL 166 November/December 2014
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