hyperphosphatemic familial tumoral calcinosis

A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene.

Signs and symptoms

• Elevated circulating calcitriol concentration
• Hyperostosis
• Hyperphosphatemia
• Calcinosis
• Nephrocalcinosis
• Angioid streaks
• Pulp calcification
• Decreased renal tubular phosphate excretion
• Subperiosteal bone formation
• Increased renal tubular phosphate reabsorption

Also known as: HFTC; PHPTC; cortical hyperostosis with hyperphosphatemia; familial Teutschlaender disease; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome