Familial Tumoral Calcinosis: A Forty-Year Follow-up on One Family

Abstract

Familial tumoral calcinosis has a varied natural history; some patients have an unrelenting course, while others may experience quiescent periods. The GALNT3 gene is responsible for the hyperphosphatemic form as seen in this family. Molecular testing may be of benefit to members of affected families, and future studies may help to explain the phenotypic variability among affected individuals. No medical or surgical treatment plan seemed to be effective for controlling the lesions in this family.

Familial Tumoral Calcinosis: From Characterization of a Rare Phenotype to the Pathogenesis of Ectopic Calcification

“…HFTC has been reported in association with pseudoxanthoma elasticum (Mallette and Mechanick, 1987). Recently, a long-term follow-up study of one of the largest HFTC kindreds described revealed salient features of the disease, including overall good prognosis, lack of efficient treatments for the disorder apart from surgical removal of calcified tumors (most patients undergo over 20 major operations during their life time), and possible association with hypertension and pulmonary restrictive disease (Carmichael et al ., 2009). Medical treatment is notoriously frustrating.…”

Monogenic Phosphate Balance Disorders

“…Combined use of intestinal phosphate binders and the carbonic anhydrase inhibitor acetazolamide has been reported to lower serum phosphorus levels and reduce tumoral masses in some patients (Garringer, Fisher et al 2006). However, other reports suggest that neither medical nor surgical treatment seems to be effective in controlling ectopic calcifications in these conditions (Carmichael, Bynum et al 2009). Future therapeutic possibilities may include direct targeting of blood FGF23 levels.…”

Les calcinoses cutanées

“…Dans ce dernier cas, les récidives après chirurgie peuvent atteindre 90 % des cas, et l'évolution de la maladie peut seulement être ralentie par l'hydroxyde d'aluminium ou les bisphosphonates [67]. La chirurgie à répétition reste nécessaire au cours de la calcinose tumorale, mais l'évolution est très variable suivant les patients, y compris au sein d'une même famille [68].…”