Findings: There is diffuse sclerosis throughout the bones. Additionally, there is a bone within bone appearance involving multiple bones, as well as metaphyseal banding, with alternating bands of lucency and sclerosis.Differential diagnosis for diffuse bony sclerosis:
- Osteopetrosis
- Sickle cell disease with bone infarcts
- Metastatic blastic disease
- Mastocytosis
- Fluorosis
- Metabolic diseases such as renal osteodystrophy
Diagnosis: Osteopetrosis.
- Failure of bony resorption by osteoclasts.
- Numerous possible genetic causes. May present as adult onset or infantile onset.
- Infantile onset typically leads to death in childhood secondary to anemia, bleeding or infection.
- Adult onset can be relatively asymptomatic.
- Typically, bones appear markedly sclerotic.
- Bones may have a "bone within bone" appearance (aka "endobone" appearance).
- Alternating sclerotic and lucent bands may be seen at the ends of long bones. This is known as metaphyseal banding.
- Vertebrae may be diffusely sclerotic, or show alternating bands (rugger jersey spine); this sign can also be seen in hyperparathyroidism.
- Fracture risk is high.
