Bone
Non-neoplastic or metabolic disease
Osteopetrosis

Author: Nat Pernick, M.D. (see Authors page)

Revised: 19 October 2016, last major update August 2013

Copyright: (c) 2003-2016, PathologyOutlines.com, Inc.

PubMed Search: Osteopetrosis[title]
Cite this page: Osteopetrosis. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/boneosteopetrosis.html. Accessed December 8th, 2016.
Definition / General
  • Also called marble bone disease, Albers - Schonberg disease
  • Rare, hereditary, diffuse and symmetric skeletal sclerosis (increased bone density) caused by osteoclast dysfunction
  • Bones have "stone like" quality, but are abnormality brittle and fracture like chalk
  • One cause is deficiency of carbonic anhydrase II, required by osteoclasts and renal tubular cells to excrete hydrogen ion; deficiency causes failure to solubilize and resorb matrix and failure to acidify urine
  • Associated with anemia and hepatosplenomegaly since reduced bone marrow
  • Types: “malignant” - autosomal recessive; detected in utero due to fractures, anemia, hydrocephaly, cranial nerve problems, infections, hepatosplenomegaly; “benign” - autosomal dominant; repeated fractures, mild cranial nerve deficits, anemia
Radiology Description
  • Shortened long bones, loss of metaphyseal flare (Erlenmeyer flask deformity), uniform opacity of pelvis and peripheral bones alternating with normal bone causing a striped appearance
  • May cause spinal spondylolisthesis
Treatment
  • Bone marrow transplant (reverses many skeletal abnormalities), human interferon gamma
Gross Description
  • Bones are solid and heavy with no medullary canal, long ends are bulbous, small neural foramina compress nerves
Gross Images

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Thickened bone

Micro Description
  • Primarily woven bone since bone is not remodeled
  • Central core of cartilage with dense and irregular bony trabeculae
  • Often abundant osteoclasts
  • Reduced marrow space
Electron Microscopy Description
  • Osteoclasts lack ruffled borders, lack features of actively resorbing osteoclasts
  • Surface of bone has massive smooth cartilaginous matrix with scattered rough areas of abnormal ossification, but devoid of orderly lamellar haversian system of normal bone
  • Many irregular fracture lines present (Hum Pathol 1981;12:376)
Differential Diagnosis
Additional References