Marble Bone

Marble bone disease was first described by Heinrich Albers-Schonberg’ (1865–1921) in 1904. Fritz Schulze ² coined the term marmor-knochcn (marble bone) in 1921. Albers-Schonberg’s patient was a 23-year-old merchant whose diffuse osteosclerosis (Figure 1) was said to give the bones a ‘marble-like’ appearance. He was first seen after a stumble in a hole caused a femur fracture. Roentgenograms revealed an ‘ebony’ appearance of the femur (due to the ‘reverse’, black bone on white background, printing) with no evidence of a medullary space. Further examination of the whole skeleton revealed the diffuse osteosclerosis that Albers-Schonberg ³ described, as if ‘formed from marble’, in his second report on the same patient. Our current term for this hereditary disorder of osteoblasts is osteopetrosis or Albers-Schonberg disease. At the time of the first report an increase in bone density was often attributed to an increase in the ‘lime content of the bones.’ Perhaps this is one of the reasons the term marble bone was chosen since ‘marble is a limestone which has crystallized through heat and pressure.’ ⁴ There are very few other disorders in young patients that can cause such a diffuse homogeneous increase in bone density. One key to the diagnosis of osteopetrosis is an inability to distinguish the normal boundary between the medullary space and the cortex. This important point was mentioned by Albers-Schonberg in his original report. Figure 1 Anteroposterior radiograph of Albers-Schonberg’s patient showing healed femoral fracture and uniformly dense (marble) bone. Reprinted from Albers-Schonberg’. Rontgenbilder einer seltenen Knochenerkrankung. <xref ref-type="bibr" rid="ref52_1"> <italic>Aerztlicher Verein,</italic> 1904</xref>, <bold>Feb</bold> https://s3-euw1-ap-pe-df-pch-content-public-p.s3.eu-west-1.amazonaws.com/9781003076568/34c29fd5-5662-4e8f-b58c-badd7fa5d724/content/fig52_1_B.jpg"/>