A tumour-like bone lesion as a manifestation of vitamin D-resistant hypophosphataemic osteomalacia

Abstract

In 1959 Prader et al described for the first time an association of vitamin D-resistant hypophosphataemic rickets with a giant-cell granuloma. Removal of this tumour, located in a rib, led to complete healing of the rickets. Since then such tumours, usually of mesenchymatous origin, have been found in a number of patients with rickets or osteomalacia and the condition has become known under various names such as tumour rickets, oncogenic rickets and tumour-induced hypophosphataemic rickets (or osteomalacia, when it occurs in adults) (Ryan & Reiss, 1984). This condition should be distinguished from X-linked or congenital hypophosphataemic vitamin D-resistant rickets. Marked hypophosphataemia resulting from reduced renal tubular reabsorption of phosphate is the common finding in both conditions and although there are clinical differences between them the diagnosis can sometimes be difficult. Here we describe a patient with congenital hypophosphataemic rickets and a bone lesion which had all the radiological...