Clinical Guidance

Hyperphosphatemic familial tumoral calcinosis (HFTC) is characterized most commonly by tumoral calcinosis or ectopic calcifications (typically in periarticular soft tissues exposed to repetitive trauma or prolonged pressure) and hyperostosis (typically manifesting as painful swelling overlying the diaphyses of long bones). Onset of lesions typically occurs in the first two decades of life. The dental phenotype unique to HFTC includes enamel hypoplasia, short and bulbous roots, pulp chamber and canal obliterations, and pulp stones. Less frequently reported findings include large and small vessel calcifications, testicular microlithiasis, and angioid streaks of the retina.

Diagnostic Criteria

Suggestive Findings

Hyperphosphatemic familial tumoral calcinosis (HFTC) should be suspected in individuals with the following clinical, laboratory, and/or imaging findings.

Clinical Findings

Tumoral calcinosis or ectopic calcifications are typically seen in periarticular soft tissues exposed to repetitive trauma or prolonged pressure, such as the hips, elbows, and shoulders; they can also be observed in other locations ranging from the eyelid to the submucosa of the large intestines . Hyperostosis. Some affected individuals experience transient but recurrent episodes of pain in the long bones, typically the tibia, associated with erythema, edema, and warmth of the overlying skin .

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with hyperphosphatemic familial tumoral calcinosis (HFTC), the following evaluations are recommended if not done at the time of diagnosis:

• Physical examination with particular attention to:

Surveillance Guidelines

No specific guidelines address the issue of surveillance in HFTC. The frequency of monitoring depends on clinical findings and medical treatment, as there are no data to support an appropriate monitoring interval. Tumoral calcinosis. When initiating medical therapy the following should be monitored regularly:

• Blood phosphorus to help manage medication doses