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Chapter 83 

Chapter 83
Chapter 83

Kate Lee

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date: 03 July 2022

Bone in a bone appearance is a descriptive term applied to bones that appear to have bone within them due to endosteal new bone formation. There are several causes (refer to the differential diagnosis). This case illustrates bone in a bone appearance in infantile or autosomal recessive osteopetrosis (also known as Albers–Schonberg disease). It is a rare hereditary disorder due to localized chromosomal defects (11q13) resulting in defective osteoclasts that lack carbonic anhydrase. While bones appear sclerotic and thick, their abnormal structure causes weak and brittle bones, resulting in fractures with poor healing. Additionally, patients present with hepatosplenomegaly as a sign of extramedullary hematopoiesis. There are two types of osteopetrosis: autosomal recessive (infantile or malignant) and autosomal dominant (adult or benign). Prognosis of the adult type is good with a normal life expectancy while the infantile subtype can result in stillbirth or death in infancy with few living beyond middle age. Mortality is typically due to bone marrow failure resulting in recurrent infection, hemorrhage, or transformation to leukemia.

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