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Osteochondroma

DEFINITION AND PATHOGENESIS

  • (Osteocartilaginous Exostosis, OCE)
  • Thought to arise at a peripheral portion of physis where an abnormal focus of metaplastic cartilage forms as a consequence of trauma or congenital perichondrial deficiency; esponding to the same stimuli as the growth plate; grows only until skeletal maturity is reached (slow growth after that from cap)(Virchow)

IMPORTANCE

  • Increasing size or evidence of activity in adulthood has an increased likelihood of malignant transformation

CLINICAL FEATURES

  • Most common benign bone tumor (35.8% of all benign tumors, 8.5% overall) (if NOF is not considered a tumor)
  • 75% <20 years of age
  • M:F = 3:1
  • 40% about the knee
  • May be an incidental radiographical finding found on a trauma radiograph
  • Pain may represent:
    • Irritation of surrounding tissues: nerves, tendons, tendons, muscles
  • Costal osteochondromas extending into a neuroforamen have been reported to cause spinal cord compression sxs
  • Associated bursal sac and "bursitis"
  • Fx through the stalk (may heal) ? nonunion, infarction of bony region or cap, ischemic necrosis
  • Pseudoaneurysm after a tear of a local artery. chronic compression of the vein, displacement of vessels
  • May cause palpable mass ? radiculopathy or myelopathy when in a spinal location (1-4% of solitary osteochondromas and in 7-9% of pts with MHE)
  • MRI and CT useful in planning excision
  • Can be intraspinal
  • Hoarseness, dysphagia, and a pharyngeal mass reported when occurring in a cervical location
  • Association with osteomyelitis
  • Malignant transformation
    • May be found after XRT (15-65 Gy), eg, after total body XRT for childhood neoplasia
      • 12% incidence of radiation-induced osteochondromas following irradiation for childhood malignancy
  • Has been reported after a diaphyseal fx
  • ? cosmetic deformity
  • Has been reported as a cause of vertigo in an C2 location

RADIOLOGIC FEATURES

  • Pedunculated (usually pointing away from physis) or sessile, with calcific densities in stalk or cap
  • Erosion into an adjacent bone
  • Metaphyseal location if the defect occurred late in childhood, diaphyseal if early (growth away from physis)
  • Bone scan
  • Directly correlated with degree of enchondral bone formation
  • More prominent uptake in younger pts
  • ? activity persists well beyond time of skeletal maturity
  • Quiescent lesions without ? uptake more frequent in older pts
  • IM canal connection with medullary bone of the OCE, may need CT to demonstrate (pathognomonic
  • CT is often helpful to determine approach
  • CT is not reliable in depicting cartilage caps < 2.5 cm in thickness
  • Nonmineralized areas of cartilage cap are lower in attenuation than muscle, due to its high water content (75-80%)
  • MRI demonstrates thickness of cap (as thick as 3 cm in adolescents and < 1 cm in adults), associated bursal sac (exostosis bursata), soft tissue mass with malignant degeneration, associated soft tissue abnormalities, largely replacing myelography in spinal lesions (cervical compression more common in the multiple form), and IM canal connection with medullary bone of the OCE
  • Stalk is isointense with bone marrow
  • Cartilage cap shows intermediate signal intensity on T1-weighted images, high signal intensity on T2-weighted images
  • Malignant degeneration with ? signal intensity on T1-weighted images and ? signal intensity on T2-weighted images
  • Angiogram/venogram helpful when vessels involved
  • Unusual location: clavicle, scaphoid
  • Forearm deformity classification (in MHE)
    • Type I: distal ulnar osteochondroma with ulnar shortening/radial bowing
    • Type IIa: proximal radial osteochondroma with radial head dislocation
    • Type IIB: distal ulnar osteochondroma with radial head dislocation
    • Type III: distal radial osteochondroma with radial shortening
  • Associated measurements include radial articular angle and carpal slip

GROSS PATHOLOGY

  • Pedunculated or sessile stalk, contiguous with the IM marrow
  • No absolute #cm for cartilage cap thickness, however it is generally accepted that >4cm is going to be found malignant (some authors have used 1-3cm) (should not thicken after age 30)
  • Lesion may be extremely large and still benign

HISTOLOGIC AND MOLECULAR FEATURES

  • Cortical and medullary bone of the tumor blends into the normal bone
  • Cartilage cap can be extremely thick in children, can be resorbed by enchondral ossification in adults
  • Dystrophic calcifications, esp in larger lesions
  • Variable amounts of cellularity and even double-nucleated chondrocytes
  • Cap may show necrotic changes
  • Fibrous tissue overlying the cartilaginous cap contains mesenchymal cells (stain + for FGF receptor 3 and collagen type IIa) responsible for osteochondroma growth

DIFFERENTIAL CLINICOPATHOLOGIC DIAGNOSIS

  • Fong's disease
  • Supracondylar (supracondyloid) process of the humerus
  • Bony spurs (enthesophytes), osteophytes
  • Malignant peripheral cartilagenous lesions
  • Parosteal osteosarcoma
  • Bizarre parosteal osteochondromatous proliferation of the hand or foot
  • Turret exostosis (post-traumatic subperiosteal hematoma dorsally on a phalanx which has ossified)

DISEASE COURSE AND TREATMENT

  • Asymptomatic lesions require no tx, may be symptomatic because of a subtendenous location
  • Excision, don't leave cartilage 'nubbins' or perichondrium around the cap behind
  • LR reported to be 1.8%
  • Fx of the sessile stalk may result in infarction of the lesion
  • Growth arrest may occur with resection (partial resection prior to physeal closure may be preferable is sxs warrant early tx)
  • Coxa valga, forearm bowing, or other growth disturbances ? ? ROM
  • Tx of forearm deformity (92% satisfactory results)
    • Type I: excision of osteochondroma, lengthening/osteotomy of radius
    • Type IIa: excision of osteochondroma and of radial head
    • Type IIb: excision of osteochondroma, gradual ulnar lengthening
    • Type III: excision of osteochondroma alone
  • Distal tibial/fibular osteochondromas may cause ankle pronation deformity, ? ROM, may require fibular osteotomy to allow resection (think MHE with aggressive lesions)
  • Bursal formation ??intrabursal loose bodies may simulate malignant radiographic appearance
  • Patellofemoral sxs reported from a sessile lesion in the distal femur
  • Pathologic fx after excision can be avoided with strict post-excision protection or prophylactic IF
  • Lesions involving the pelvis or scapula should be considered to be resected because of difficulty in following the lesion
  • Vascular injury (arterial or venous stenosis, vessel laceration, or pseudoaneurysm), chronic venous stasis or DVT
  • Neurological compromise
  • Brachial plexus injury from proximal humeral OCE reported
  • Malignant transformation may be heralded by onset of pain (<<<1%)

SPECIAL CONSIDERATIONS

  • MULTIPLE (HEREDITARY) OSTEOCHONDROMATOSIS

    • Aka Multiple chondromatosis, multiple hereditary exostoses, MHE)
    • Hereditary: AD (½ of M and F children born to a parent with the disorder will have it also)
    • Short stature, LLD, valgus deformities of knee/ankle, asymmetry of pectoral/pelvic girdles, bowing of the radius/ulnar deviation of the wrist/subluxation of the radiocapitellar joint
    • Circumferential lesions a manifestation of this entity
    • 1/50,000 prevalence (Chamorros in Guam and Ojibway Indian community of Pauingassi in Manitoba have higher rates)
    • M=F
    • Up to 3/16 of those affected in a generation of familial MHE reported to develop sarcomatous degeneration
    • Wavy pelvis sign
      • Undulating contour of the pelvis on CT scan
    • Exostosin (EXT) gene abnormalities
      • EXT-1
        • 49 different mutations found
      • EXT-2
        • 25 different mutations found
      • G-to-T transversion in ext2 gene (11p13)(50%) and ext1 (8q24.1)(33%)
      • Other genes (17%): ext3, extl
      • EXT genes involved in heparin sulfate synthesis
      • EXT genes important in Indian hedgehog/parathyroid hormone-like hormone (Ihh/PTHLH) growth plate signaling pathways
    • Regulate chondrocyte maturation and differentiation
    • Encode endoplasmic reticulum-resident type II transmembrane glycoproteins involved in the regulation of cell-surface heparan sulfate proteoglycans which are important for the diffusion of cell-signaling molecules (Indian hedgehog)
    • Secondary chondrosarcoma reported from 0.5% to 25%
    • (See under Skeletal Dysplasias....Tumor-like Bone Dysplasias)
  • METACHONDROMATOSIS

    • Described by Maroteaux in 1971
      • The term metachondromatosis describes the evolving nature of the chondromatous lesions
      • AD
        • Exostosin (EXT) gene mutation
          • EXT-1
          • EXT-2
    • Multiple metaphyseal juxtaepiphyseal exostoses
      • Characteristically point toward the adjacent joint
      • May involve hands/feet
      • No shortening of the limbs is present
    • Metaphyseal enchondromas
      • Different from multiple enchondromatosis by often involving iliac crests and metaphyses of long bonesPeriarticular calcifications
      • Due to peripheral enchondral ossification in epiphysis-based exophytic enchondromas
    • Unilateral or bilateral Legg-Calve-Perthes-like changes in the femoral head(s)
      • Perhaps due to lesional interference with the epiphyseal blood supply
    • Secondary malignancy has been reported (intermediate grade chondrosarcoma)


  • LANGER-GIEDION SYNDROME

    • (Trichorhinophalangeal syndrome)
    • Multiple exostoses
    • Caused by a deletion of ext1 and adjacent trps1 gene
  • SUBUNGUAL EXOSTOSIS

    • (Subungual osteochondroma)
    • Arises in the distal phalanx beneath the nailbed, may cause ulceration and secondary infection
    • Usually involves the great toe
  • DYSPLASIA EPIPHYSEALIS HEMIMELICA

    • (Trevor's disease, hemimelic epiphyseal dysplasia, tarsoepiphyseal aclasia)
    • Classification (Azouz)
      • Localized form (usually affects hindfoot or ankle)
      • Classical form (hemimelic distribution, multiple involvement in a single extremity)
        • > 2/3 of cases
      • Localized to the ankle:
        • Mouchet type
      • Localized to the foot:
        • Belot type
      • Generalized or severe form (involvement of whole LE from pelvis to ankle ? UE ? chest wall)
      • ? hypertrophy of ipsilateral ilium
      • ? hip dislocation
      • An epiphyseal osteochondroma, usually found before young adulthood, most commonly affecting the (½) talus or distal femur or tibia; reported in acetabulum and proximal femur
      • May be associated with genu valgum, genu varum, or ankle equinus
      • Has been reported causing carpal instability or limited ROM
      • Painless swelling or deformity of the joint(s)
      • May affect one or both sides of a joint
      • Progress to DJD without intervention
      • 12.5% have been reported to progress to DJD even with intervention
      • Occurrence with a metaphyseal osteochondroma in the same limb has been reported
      • Excision (even if not complete) results in symptomatic improvement
      • Has been reported in a pt with polydactylies and syndactylies of all 4 limbs and bilateral distal tibial lesions
      • MRI may reveal associated ligamentous abnormalities (86% about the ankle)
      • M:F = 3:1
      • Multiple bones in the same, bilateral, or generalized extremity(ies) may be affected severely compromising function
      • Up to 75% may have multiple site involvement
      • Multifocal calcifications adjacent to the epiphysis coalesce as an osteochondroma
      • Histologically the same as an osteochondroma

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