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Ollier's disease (enchondromatosis)
A disorder affecting the bone growth plate in which the hypertrophic cartilage is not reabsorbed & ossified normally. When associated with hemangiomas is known as Maffuci syndrome.
Etiology: unknown
Pathology:
1) enchondromas are common benign cartilage tumors of bone; they can occur as solitary lesions or as multiple lesions in enchondromatosis
2) residual cartilage with a disorderly arrangement of chondrocytes with variable proliferative & hypertrophic changes
3) metaphyseal in association with growth plate in young children
4) often diaphyseal in teenagers & adults
5) commonly at the ends of long bones
6) pelvis often involved
7) unilateral involvement common
Genetics:
- associated with defects in PTHR1
Clinical manifestations:
- skeletal deformity
Complications:
- chondrosarcoma develops occasionally
Related
hereditary multiple exostoses (diaphyseal aclasis)
General
bone disease; osteopathia
Properties
ASSOCIATED-NEOPLASM[S]: chondrosarcoma
chondroma
Database Correlations
OMIM 166000
References
- DeGowin & DeGowin's Diagnostic Examination, 6th edition,
RL DeGowin (ed), McGraw Hill, NY 1994, pg 623
- Harrison's Principles of Internal Medicine, 13th ed.
Isselbacher et al (eds), McGraw-Hill Inc. NY,
1994, pg 2200