Bone & joints

Other nonneoplastic


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PubMed Search: Osteopetrosis[title]

Nat Pernick, M.D.
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Cite this page: Pernick N Osteopetrosis. website. Accessed September 30th, 2023.
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
  • 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
Microscopic (histologic) 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
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