Bone & joints
Other nonneoplastic
Osteopetrosis
Author: Nat Pernick, M.D.
Last author update: 1 August 2013
Last staff update: 19 January 2022
Copyright: 2003-2024, PathologyOutlines.com, Inc.
PubMed Search: Osteopetrosis[title]
Table of Contents
Definition / general | Radiology description | Treatment | Gross description | Microscopic (histologic) description | Electron microscopy description | Differential diagnosis | Additional referencesCite this page: Pernick N Osteopetrosis. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/boneosteopetrosis.html. Accessed May 1st, 2024.
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
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
- Myelosclerosis
- Osteoblastic metastases
- Paget disease
Additional references
