Chipping Away at Marble-Bone Disease

Abstract

Osteopetrosis (marble-bone disease) results from diminished skeletal resorption.1 We are certain of this pathogenesis because histologic studies of bone show that primary spongiosa — the scaffolding synthesized by chondrocytes in growth plates for subsequent deposition of osseous tissue — is not removed by osteoclasts during skeletal remodeling (turnover). Instead, this form of cartilage becomes encased as “islands” within trabecular bone and persists away from sites of endochondral bone formation. Bone formation continues normally, and the bones become increasingly dense.1 When skeletal resorption is profoundly impaired, the neural foramina do not widen, the medullary space is choked with bone, and skeletal . . .