Familial Hyperphosphatemic Tumoral Calcinosis A Report From Saudi Arabia

Abstract

The clinical details and radiologic and histopathologic findings of lesions from three male siblings and their female cousin with hyperphosphatemic tumoral calcinosis are presented. The three siblings were children of consanguineous parents. The patients were aged 5, 17, 19, and 20 years; however, they first presented when they were 3.5, 8, 4, and 5 years of age, respectively; resulting in a disease duration ranging from 1.5 to 15 years. All are alive with persistent disease. The eldest patient has an alpha-thalassemia trait. Sites of lesions included the periarticular soft tissues of gluteal region, the shoulder, elbow, interscapular area, axilla, and popliteal fossa. A calcified soft tissue mass was seen radiologically at all sites affected. Histologically, locules of calcified debris surrounded by multinucleated osteoclast-type giant cells and foamy histiocytes characterized all lesions. The cells showed cytoplasmic vacuoles that stained positively both with anti-alpha-1-antichymotrypsin and anti-alpha-1-antitrypsin. Ultrastructurally hydroxyapatite deposits were demonstrable in these cytoplasmic vacuoles. All patients had normocalcemia and hyperphosphatemia. A low normal blood level of 25-hydroxycholecalciferol was noted in the youngest patient. Surgical excision was unsuccessful as the lesions recurred and progressed. Medical therapy may only slow the progression of the disease process.