Polycystic bone disease: A new, autosomal dominant disorder

We describe a new heritable bone disease characterized radiographically by increasingly numerous and enlarging cyst-like lesions throughout the skelet on. Beginning in early childhood, a father, son, and daughter all suffered from progressively frequent pathological fractures involving such radioluce ncies. Healing occurred uneventfully and with little residual pain or defor mity. Biochemical parameters of mineral homeostasis and skeletal turnover w ere normal. Bone scanning showed increased radioisotope uptake primarily in fractures and in the largest collections of the lesions. The histopatholog y is uncertain, but may reflect a form of intraosseous lipomatosis. This un ique condition, which we have provisionally named polycystic bone disease, is inherited as an autosomal dominant trait with a high degree of penetranc e.