Bone and Soft-Tissue Disorders
= OLLIER DISEASE = DYSCHONDROPLASIA = MULTIPLE ENCHONDROMATOSIS
[Léopold Ollier (1830–1900), French orthopedic surgeon in Lyon]
= nonhereditary failure of cartilage ossification
Cause: derangement of cartilaginous growth resulting in migration of cartilaginous rests from epiphyseal plate into metaphysis where they proliferate
Prevalence: 1÷100,000 persons
Histo: persistent cartilage in bones formed by enchondral ossification
Mean age: 13 years
Association: juvenile granulosa cell tumor of ovary
- growth disparity with leg / arm shortening
- painless swelling, hand + foot deformity
Location: predominantly unilateral monomelic distribution (a) localized (b) regional (c) generalized
Site: metacarpals >phalanges
- well-demarcated rounded radiolucencies / columnar streaks of decreased density from epiphyseal plate into diaphysis of long bones = cartilaginous rests
- expansile remodeling of affected bone:
- clublike deformity / expansion of metaphyseal region
- predominant cortical thinning + endosteal scalloping
- bony spurs pointing toward the joint (DDx: exostosis points away from joint)
- cartilaginous areas show punctate calcifications with age:
- matrix mineralization with TYPICAL arc-and-ring appearance of chondroid lesions
- associated with dwarfing of the involved bone ← impairment of epiphyseal fusion
- bowing deformities of limb bones → fracture
- discrepancy in length = Madelung deformity (radius, ulna)
- small bones of foot + hand: aggressive deforming tumors that may break through cortex ← tendency to continue to proliferate
- fanlike radiation of cartilage from center to crest of ilium
Prognosis: skeletal findings often stabilize after puberty
Cx: sarcomatous transformation (in 5–50%): osteosarcoma (young adults); chondro- / fibrosarcoma (in older patients); mean age of 33 years
- ⇑risk with tumor in long bones + axial skeleton
- ⇑risk to develop multiple synchronous / metachronous chondrosarcomas
Maffucci Syndrome
[Angelo Maffucci (1847–1903), chief pathologist in Pisa, Italy]
= variant of Ollier disease
= rare nonhereditary early mesodermal dysplasia characterized by enchondromatosis + hemangiomatosis (= multiple low-flow vascular malformations [venous >>lymphatic])
Incidence: 180 cases confirmed
Histo of hemangioma:
- spindle cell hemangioma >(originally described) cavernous hemangioma affecting SQ tissue of distal extremities
Age: 25% during 1st year of life; 45% prior to 6 years; 78% before puberty; M=F
Association: juvenile granulosa cell tumor of ovary
- multiple soft red-blue / skin-colored acral spongy subcutaneous nodules (= hemangiomas)
- swelling of dorsum of hand + foot (lymphatic form)
- normal intelligence
Location: unilateral involvement (50%) / marked asymmetry; distinct predilection for metaphyses of tubular bones of hand (88%) + foot (61%), lower leg (59%), femur (53%), humerus (42%), forearm (41%), pelvis (21%), vertebra (10%)
- hemangioma + less commonly lymphangioma
- phleboliths frequently present
- striking tendency for enchondromas to be very large projecting into soft tissues
- growth disturbance of long bones (common)
MR:
- increased SI centrally on fluid-sensitive sequence ← myxoid change
Cx:
- malignant transformation of
- enchondroma → chondrosarcoma / fibrosarcoma (15–20%)
- hemangioma → hemangiosarcoma / hemangio-endothelioma / lymphangiosarcoma (in 3–5%)
- ↑prevalence of ovarian carcinoma, pancreatic ca., carcinoma, CNS glioma, gastrointestinal adenoca. Prevalence of malignancy: 23–100% → lifelong follow-up
DDx: Ollier disease (without hemangiomas)