(medicine) A rare developmental error of unknown cause but of familial tendency, characterized chiefly by excessive radiographic density of most or all of the bones. Also known as marble bone disease.
Osteopetrosis
| Sci-Tech Dictionary: osteopetrosis |
(¦äs·tē·ō·pə′rō·səs)
| 5min Related Video: Osteopetrosis |
| Dental Dictionary: osteopetrosis |
(ostē ōpetrō′sis)
n
n
Osteosclerosis of unknown origin that obliterates the bone marrow regions, with resultant anemia. Delayed tooth eruption and severe osteomyelitis or necrosis after dental infection may be associated with the disease. Also known as Albers-Schonberg disease, marble bone.
Osteopetrosis. (Regezi/Sciubba/Jordan, 2003)
| Veterinary Dictionary: osteopetrosis |
In mammals, a hereditary disease marked by abnormally dense bone, and by the common occurrence of fractures of affected bone. It may lead to obliteration of the marrow spaces, causing anemia. Readily diagnosable radiographically. Occurs in rats, rabbits and cattle, in which it is usually associated with other inherited, congenital skeletal defects including shortness of long bones. In calves needs to be differentiated from similar lesions caused by infection in utero by the bovine virus diarrhea virus.
- avian o. — occurs as part of the avian leukosis, rous sarcoma complex. All bones are affected but the long bones are most obviously deformed. Called also thick leg disease of poultry.
| Wikipedia: Osteopetrosis |
| Osteopetrosis (Malignant) | |
|---|---|
| Classification and external resources | |
 X-ray of the pelvis of a patient with osteopetrosis, adult onset form (Albers-Schonberg disease). Note the dense bones. |
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| ICD-10 | Q78.2 |
| ICD-9 | 756.52 |
| OMIM | 166600 259700 |
| DiseasesDB | 9377 |
| eMedicine | med/1692 |
| MeSH | [1] |
Osteopetrosis, literally "stone bone", also known as marble bone disease and Albers-Schonberg disease is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to the more prevalent osteomalacia, in which the bones soften.
It can cause osteosclerosis.[1]
Contents |
Pathogenesis
Normal bone growth is achieved by a balance between bone formation by osteoblasts and bone resorption (break down of bone matrix) by osteoclasts. In osteopetrosis, the number of osteoclasts may be reduced, normal, or increased. Most importantly, osteoclast dysfunction mediates the pathogenesis of this disease.
The exact mechanism is unknown. However, deficiency of carbonic anhydrase in osteoclasts is noted. The absence of this enzyme causes defective hydrogen ion pumping by osteoclasts and this in turn causes defective bone resorption by osteoclasts (acidic environment is needed for dissociation of calcium hydroxyapatite from bone matrix and its release into blood circulation). Hence, bone resorption fails while its formation persists. Excessive bone is formed.[2]
Symptoms
Despite this excess bone formation, people with osteopetrosis tend to have bones that are more brittle than normal. Mild osteopetrosis may cause no symptoms, and present no problems. However, serious forms can result in stunted growth, deformity, increased likelihood of fractures, also patients suffers anemia, recurrent infections and hepatosplenomegaly due to bone expansion leading to bone marrow narrowing and extramedullary hematopoiesis. It can also result in blindness, facial paralysis, and deafness, due to the increased pressure put on the nerves by the extra bone.[3]
Variations
There are several forms:
| Name | OMIM | Gene |
|---|---|---|
| OPTA1 | 607634 | LRP5 |
| OPTA2 | 166600 | CLCN7 |
| OPTB1 | 259700 | TCIRG1 |
| OPTB2 | 259710 | TNFSF11 |
| OPTB3 | 259730 | CA2 (renal tubular acidosis) |
| OPTB4 | 611490 | CLCN7 |
| OPTB5 | 259720 | OSTM1 |
| OPTB6 | 611497 | PLEKHM1 |
| OPTB7 | 612301 | TNFRSF11A |
Differential diagnosis
The differential diagnosis includes other disorders which can cause diffuse osteosclerosis, such as hypervitaminosis D, and hypoparathyroidism, Paget's disease, diffuse bone metastasis of breast or prostate cancer (which tend to be osteoblastic while most metastases are osteolytic), intoxication with fluoride, lead or beryllium, and hematological disorders such as myelofibrosis, sickle cell disease and leukemia.
Treatment
There is no cure for most of the types but for the OPTB3 type where CA2 is missing can be cured by bone marrow transplant.
If complications occur or in children, patients can be treated with vitamin D. Gamma interferon has also been shown to be effective, and it can be associated to vitamin D. Erythropoetin has been used to treat any associated anemia. Corticosteroids may alleviate both the anemia and stimulate bone resorption. Fractures and osteomyelitis can be treated as usual.
Notable cases
See also
References
- ^ Lam DK, Sándor GK, Holmes HI, Carmichael RP, Clokie CM (2007). "Marble bone disease: a review of osteopetrosis and its oral health implications for dentists". J Can Dent Assoc 73 (9): 839–43. PMID 18028760. http://www.cda-adc.ca/jcda/vol-73/issue-9/839.html.
- ^ Robbins Basic Pathology by Kumar, Abbas, Fausto, and Mitchell, 8th edition
- ^ Robins basic pathology
- ^ "Marin County artist Laurel Burch dead at 61 of rare bone disease". http://www.sfgate.com/cgi-bin/article.cgi?f=/c/a/2007/09/23/BAH2S9B1N.DTL. Retrieved 2007-12-23.
External links
- International Osteopetrosis Association
- http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Osteopetrosis
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Learn More
 | thick leg disease |
| Osteopetroses: Diagnosis |
| Albers–Schönberg disease |
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| Dental Dictionary. Mosby's Dental Dictionary. Copyright © 2004 by Elsevier, Inc. All rights reserved. Read more |
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| Veterinary Dictionary. Saunders Comprehensive Veterinary Dictionary 3rd Edition. Copyright © 2007 by D.C. Blood, V.P. Studdert and C.C. Gay, Elsevier. All rights reserved. Read more |
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