Show Summary Details
Page of

Chapter 83 

Chapter 83
Chapter:
Chapter 83
Author(s):

Kate Lee

DOI:
10.1093/med/9780199393947.003.0083
Page of

PRINTED FROM OXFORD MEDICINE ONLINE (www.oxfordmedicine.com). © Oxford University Press, 2020. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 28 March 2020

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.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.