Clinical and biochemical studies in Engelmann's disease (progressive diaphyseal dysplasia)

The clinical and biochemical features of four adults with Engelmann's disease (Camurati-Engelmann disease; progressive diaphyseal dysplasia) are presented. One young patient, with a particularly severe form of the disease, is discussed in detail. Biochemical abnormalities were found in three of the patients. In two of them, one with localized hyperostosis and one with generalized bone disease, the only changes were an increase in the plasma alkaline phosphatase and urinary total hydroxyproline excretion. The most severely affected patients, who had had progressive and generalized bone disease from age two and a half years, also had persistent hypocalcaemia and hyperphosphataemia, a positive calcium balance, and a very low urine calcium excretion. It is suggested that some patients with Engelmann's disease may have a previously unrecognized metabolic disorder associated with increased retention of calcium and excessive bone formation. The possible role of abnormal phosphate metabolism in this increased formation of bone, and the relationship of Engelmann's disease to other hyperostoses, are discussed.