Higher osteoclastic demineralization and highly mineralized cement lines with osteocalcin deposition in a mandibular cortical bone of autosomal dominant osteopetrosis type II: ultrastructural and undecalcified histological investigations

In this study we report on histological and ultrastructural investigations of the mandibular cortical bone in a case of autosomal dominant osteopetrosis type II complicated by mandibular osteomyelitis. Histologically, there was a marked increase in the number and size of osteoclasts on the inner bone surface. An undecalcified preparation showed a pair of deeply stained (highly demineralized) and stain-phobic (highly mineralized) layers on the bone surface just beneath the osteoclasts. The layers were incorporated into the bone matrix during the remodeling process as thickened cement lines. A contact microradiogram of the cortical bone revealed highly mineralized layers at the cement lines, which were closely correlated with immunohistochemical evidence of deposition of osteocalcin at the thickened cement lines. Ultrastructural examination showed that the osteoclasts had a typical clear zone, but they were deficient in ruffled border formation and had numerous lysosomal vacuoles containing dense substances. An electron-dense amorphous material layer was present on the bone surface just beneath the osteoclasts as well as at the cement lines. The layer was partly composed of a short fibrillar material, and it partially revealed the lamellar structure. Consequently, an osteoclastic malfunction might be primarily involved in the process of bone matrix resorption rather than demineralization, resulting in higher demineralization and abnormal material deposition on the bone surface and at the cement lines. Furthermore, evidence of active osteoclastic bone resorption with a brush border formation at the bone involved in the inflammatory lesion in this case suggests that the osteoclastic malfunction is influenced and recovered by a microenvironment such as inflammatory cytokines.