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tumour like lesions Flashcards

Fibrous dysplasia Osteofibrous dysplasia Paget's disease Eosinophilic granuloma Myositis ossificans Melorheostosis Heterophic ossifications tumoral calcinosis Bone Infarct focal fibrocartilaginous dysplasia

1
Q

What is fibrous dysplasia?

A
  • A developmental abnormality caused by failure of the production of normal lamellar bone
    • areas of the skeleton remain poorly mineralised tabeculae
  • females > males
  • found any ages
  • **75% pts <30 yrs **
  • location
    • ​any bone can be involved
    • Prx femur, rib, maxilla and tibia
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2
Q

What are the genetics of fibrous dysplasia?

A
  • GS alpha protein ( chromosome 20q13) activating mutation
  • Affects cAMP signalling pathway -> increased production of cAMP
  • not inherited
  • high production of FGF-23 may-> hypophosphataemia
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3
Q

Name the associated conditions of fibrous dysplasia?

A
  • McCune Albright Syndrome
    • cafe au lait spots in coast of maine- sharp/irreg
    • Preococious puberty
    • renal phosphate wasting due to FGF-23( oncogenic osteomalacia)
    • unilateral polyostotic fibrous dysplasia
  • ​Mazabraud syndrome
    • ​polyostotic fibrous dysplasia
    • soft tissue intramuscular myxomas
  • Osteofibrous dysplasia
    • rare form that primarily affects the tibia & is confined to cortices
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4
Q

What is the prognosis of fibrous dysplasia?

A
  • 1% risk of malignant transformation to
  • osteosarcoma
  • fibrosarcoma
  • malignant fibrous histocytoma
  • Poor prognosis
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5
Q

What is the presentation/symptoms of fibrous dysplasia?

A
  • Swelling or deformity
  • lesions maybe
    • monostotic 80%
    • polyostotic 20%
  • Pain from stress fx

On examination

  • cafe au lait spots- maybe present
    • larger/irreg border cf NF spots
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6
Q

What are the radiographs of fibrous dysplasia?

A
  • Central lytic lesion in medullary canal( diaphyseal/metaphyeal)
    • may have cortical thinning w expansile lesion
  • Highly lytic lesion/ ground glass appearance
  • “punched out lesion” sclerotic margin
  • Shepherd’s crock deformity
  • vertebral collapse & kyphoscoliosis
  • Bone scan- usually warm
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7
Q

What does histology of fibrous dysplasia show?

A
  • typical “Alphabet soup/ chinese letters”
  • fibroblast proliferation surrounded by woven bone
    • woven bone lacks osteoblastic rimming
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8
Q

What is the tx of fibrous dysplasia?

A

Non operative

  • Observation
    • asymptomatic pts
  • Bisphosphonate therapy
    • for symptomatic polyostotic fibrous dysplasia
    • effective in reducing pain/ bone turnover

Operative

  • Internal fixation and Bone grafting
    • ​symptomatic lesions/ impending/actual fx/ severe deformity
    • never use autogenous BG as bone will turn into FB use cortical/canc allograft
    • IM nails more effective than plating in Lower limb
  • Osteotomies
    • for deformity
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9
Q

What is osteofibrous dysplasia?

A
  • A rare form of fibrous dysplasia that primary affects Tibia
  • confined to cortices
  • usually younger children
  • males> females
  • location
    • ​ant tibia
  • Genetics
    • Doesn’t have Gs alpha activating mutation cf fibrous dysplasia
    • trisomy 7,8,12,22 reported
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10
Q

What is the prognosis of osteofibrous dysplasia?

A
  • lesions usually regress & don’t cause problems in adulthood
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11
Q

What are the symptoms and signs of osteofibrous dysplasia?

A
  • Asymptomatic
  • painless swelling
  • anterior/ anterolateral bowing of tibia
  • pseudoarthrosis develops in 10-30%

OE

  • local tenderness over tibia
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12
Q

What radiographic features is seen in osteofibrous dysplasia?

A
  • Anterior eccentric lytic lesions in a child -> tibial bowing
  • usually diaphyseal
  • no periosteal reaction
  • confined to anterior cortex
  • ddx includes adamantioma
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13
Q

What is the histology in osteofibrous dysplasia?

A
  • Similar to fibrous dysplasia except Osteoblastic rimming is present- see pic
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14
Q

What is the tx of osteofibrous dysplasia

A

Non operative

  • Observation
    • first line of tx- for most pts this alone
  • Bracing
    • deformity significant and interfering w walking

Operative

  • Deformity correction w osteotomy
    • rarely needed
    • significant deformity
    • preform after skeletal maturity
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15
Q

What is Paget’s disease?

A
  • A condition of abnormal bone Remodelling
    • original osseous tissue is reconstructed thru active interplay between excessive bone resorption and abnormal new bone formation
  • Increase osteoclastic bone resorption is primarily cellular abnormality
  • cause = slow virus infection
    • paramyxovirus
    • respiratory syncytial virus
  • Peak incidence 5th decade
  • common causcians
  • males= females
  • location
    • monostotic/polyostotic
    • femur, pelvis, tibia, skull, spine
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16
Q

What are the genetics of Paget’s disease?

A
  • Most spontaneous
  • familial clusters 40% autosomal dominant transmission
  • mutations - 4 found
    • most important SQSTM1 - worse Paget’s
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17
Q

What are the orthopaedic manifestations of Paget’s disease?

A
  • Bone pain
  • Long bone bowing
  • fx - due to brittle bones- tend to be transverse
  • Large joint OA
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18
Q

What is the prognosis of Paget’s disease?

A
  • Paget’s sarcoma
    • <1% will develop Paget’s sarcoma( 2ary sarcoma)
    • Osteosarcoma is most common then fibrosarcoma & chondrosarcoma
    • most common in pelvis, femur and humerus
    • poor prognosis
      • 5 yr survival for non mets Paget’s sarcoma is <5%
      • tx with Chemo & wide surgical resection
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19
Q

What is the classification of Paget’s disease?

A
  • 3 phases
  1. Lytic- intense Osteoclast reabsorption
  2. Mixed- resorption/compensatory bone formation
  3. Sclerotic- osteoblastic bone formation

All 3 phases may coexist in same bone

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20
Q
A
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21
Q

What is the presentation of Paget’s disease?

A
  • Asymptomatic
    • found incidentally
  • Pain
    • stress fx
    • increase vascularity and warmth
  • New onset of Pain and swelling
    • 2ary sarcoma
  • Cardiac Symptoms
    • can pc- High output cardiac failure particularly if large/multiple lesions and pre-exisiting dimished cardiac function
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22
Q

What is seen in radiographs with Paget’s disease?

A
  • Coarsened trabeculae give bone a blastic appearance
  • lytic phase
    • blade of grass/flame shaped lucent advanced edge
  • mixed- lytic and sclerotic w coarsened trabeculae
  • sclerotic- bone enlargement w cortical thickening- see pic
  • long bone bowing
  • fx
  • osteitis circumscripta- cotton wool exudates in skull
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23
Q

What is seen in bone scan of Paget’s disease?

A
  • Accurately marks site of disease
  • intensely HOT in LYTIC and MIXED phase
  • Less HOT in sclerotic phase
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24
Q

What is seen in lab results of Paget’s disease?

A
  • Elevated serum alk phosphatase
  • elevated urinary hydroxyproline ( collagen breakdown)
  • Increase urinary N telpeptide, alpha- C telopeptide and deoxypyridinoline
  • Normal calcium levels
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25
What is seen in histology of Paget's disease?
* **Woven bone and irregular braod trabeculae with disorganised cement lines in a mosaic pattern** * numerous large **osteoclasts w multiple nuclei per cell**
26
What is the tx of Paget's disease?
Non operative * **Observation and supportive tx** * asymptomatic pts * physio, nsaids, oral analgesics * **Bisphosphonates** * alendronate, risedronate oral - inhibits oc and ob * pamidronate- iv, inhibits only oc * **Calcitonin** * = Oc to shrink in size and decrease bone resorptive activity within minutes Surgery * **THR/TKR** * need to tx to reduce bleeding esp THR - not in lytic phase * \> incidence of suboptimal aligment 2ary to pagetoid bone highest in TKR * **Metaphyseal osteotomy and plate fixation** * fx thru path bowing of long bones * impending fx
27
What is Histocytosis X or Langerhans cell histiocytosis?
* A spectrum of diseases of the reticuloendothelial system with one in three general presentations 1. **Eosinophilic granuloma** (EG)- is a tumor like condition secondary to proliferation of histiocytes, usually a self limited lesion found in younger pts​ 2. **Hand-Schuller-Christian Disease** (HSC)- chronic, disseminated form of bone & visceral lesions, aKA langerhans cell histocytosis w visceral involvment 3. **Letterer-Siwe disease**- a fatal form that occurs in young children
28
What is the epidemiology of histocytosis X?
* Most common in children 80% \<20 yrs * **Hand-Schuller-Christian disease= children \> 3 yrs** * **Letter-Siwe disease- \<3 years** * Male : female 2:1 * location * Eosinophilic granuloma * skull/ribs/clavicle/scapula/mandible * isolated lesions of thoracic spine most common * HSC * Multiple bony sites * multiple skull lytic lesions * No clear genetics
29
What is the prognosis of histocytosis X?
* Eosinophilic granuloma * isloated involvment generally treatable * spine lesions spontaneously resolve * HSC * prognosis depends on response to chemo * worsening prognosis w increasing extraskeletal involvment * LSD * generally fatal in children \<3 yrs
30
What is the symptoms of eosinophilic granuloma?
* Pain and swelling in region of involvement * localised/diffuse back pain * HSC * **multiple skull lytic lesions- similar to MM** * **diabetes insipidus** * **exopthalmos** * visceral involvment- diffuse/ non specific adbo/chest pain
31
What is seen on xrays of eosinophilic granuloma?
* Known as the great mimicker similar to * osteomyelitis, lymphoma, fibrous dysplasia, Ewing's sarcoma * _Diaphyseal lesions_ * **well defined lytic/punched out- see pic** * cortex thinned/expanded/destroyed * may have periosteal reaction * _Metaphyseal lesions_ * **extend up to but not thru physis** * less central location cf diaphyseal lesions * _Spine_ * **vertebra plana- flattened vertebra** * increased kyphosis
32
What is seen on histology of eosinophilic granuloma?
* **Langerhans cells** * mononuclear histocyte like cells w oval nuclei w well defined round/ oval cytoplasm * a prominent nuclear groove ( coffee bean nuclei) can be seen in most of the nuclei- blue arrow
33
Describe the tx of eosinophilic granuloma?
_Non operative_ * **Observational** * a self limited process so can be tx by obs alone * **Bracing** * prevent kyphosis of spine * will correct deformity in 80% pts * vertebral lesions general regain 50% height * **Low dose Radiation 600-800 cGy** * for lesions in spine that compromise stability * effective most lesions * **Chemotherapy** * Diffuse HSC * methotrexate/vinblastine * prognosis improved w less severe extraskeletal involvement * **Corticosteriod injection** * isolated lesions, post currettage Operative * **Curettage and bone grafting** * Lesions that endanger articular surface or at risk of fx * **Spinal deformity correction** * progressive spinal deformity refractory to bracing * 10% will need op.
34
What is Myositis Ossificans?
* A **form of Heterotrophic Ossification** that is the result of * **Direct trauma** * **Intramuscular haematoma** * Most common location is **Diaphysis** of bone * Must differentiate from tumours * **_Fibrodysplasia ossificans progressiva_** (FOP) is a rare subtype of HO - Stone man's disease * mutation of ACVR1 gene ( activin A type 1 receptor gene) * **progressive HO** (muscles/fascia/tendons/lig/joint capsule) w great toe abnormality ( hallux varus/malformed MT
35
What are the symptoms of myositis ossificans?
* Pain that decreases with time * Size of mass that decreases with time * O/E * palpable mass * restricted rom- see pic
36
What is seen on xrays of myositis ossificans?
* Perpherial bone formation with central lucent area * May appear as dotted vein pattern
37
What is the tx of myositis ossificans?
Non operative * **rest, range of motion exercises, and activity modification** * passive strecthing is CI- makes worse! Surgery * **Surgical excision** * Only if it remains a problem after it matures * _Don't operate in acute phase, wait at least 6/12- cold on bone scan_
38
What is Melorheostosis?
* **Rare, Benign Painful devleopmental dysplasia of cortical bone. effecting the extremities charcterised by formation of Periosteal new bone formation** * **usually before 40 yrs** * M=F * lower extremities \> upper * Non hereditary
39
What are the symptoms of Melorheostosis?
* **Pain** * **reduced ROM** * **Joint contractures** O/E * fibrosis of the skin w induration/ erytherma * reduced rom * painful hyperostoses
40
What is seen on radiographs of Melorheostosis?
* Cortical Hyperostosis * **Dripping candle wax** w dense hyperostosis that flows along the cortex of the bone * **Hyperostosis may flow across the joints**
41
What is seen on histology of Melorheostosis?
* Normal Haversian systems with enlarged bone trabeculae & without cellular atypia or mitotic figures
42
What is the tx of Melorheostosis?
**Non operative** * **Symptomatic TX** * mild symptoms with adequate motion Operative * **Hyperostotic bone resection w contracture release** * severe contractures/ limited mobility & apin
43
What is heterophic ossification?
* **Atypical formation of bone in extraskeletal tissues** * usually occurs **spontaneously or following trauma** * within **2/12 of neurological** ( brain) injury) * most often found between _muscle and joint capsule_
44
Where are the common locations of heterophic ossification?
* _post brain injury_ * **hip**\> elbow \> shoulder\>knee * **Elbow Ho** \> **post brain trauma** * occurs on affected spastic side * rarely in the knee * _post spinal cord injury_ * hip\> knee\>elbow\>shoulder * Hip flexors and Abductors \>Extensors and adductors * Medial aspect of knee
45
What is the pathophysiology of HO?
* Unknown but genetic predisposition * Experimental HO assoc with tissue expression of cAMP
46
What are the associated conditions of HO?
* **Pathological fx** * reduced rom & osteoportic bone * **Nerve impingement** * **Soft tissue contractures** * **Complex regional pain syndrome** * **Joint ankylosis** * **HO post THR affects outcome**
47
What are the risk factors for developing HO?
* **Injury severity score**- 11% * **Traumatic brain injury**- 11% * **Spinal injury**-20% * Neurological compromise * Decubitus ulcers * Antegrade femoral nail site-25% * Distal femoral traction pins * Amputation thru zone of injury * THR - 53% but only 5% significant * TKR * Surgical Approach-extended iliofemoral\> kocher- langerbeck\> ilioinguinal
48
What is the presentation of HO?
* Painless loss of ROM * Interfes with ADL * CRPS symptoms * Fever O/E * Ankylosing of joints * loss of movement * neurological signs
49
What is HO seen on imaging?
* xrays * ossification easy to visualise * bony cortex= maturity * trabecular pattern * sharp demarcation from surrouding tissues * USS * for early dx of HO * echogenic surfaces with posterior acoustic shadowing * Bone scan * triphasic for early dx
50
what is seen labs results with HO?
* Elevated alkaline phosphatase * Elevated CRP * Elevated CK * extent of muscle involvement
51
Describe the tx of HO?
Prophylaxsis * _Bisphosphonates & NSAIDS_ * **Indomethacin 75mg/day for 6 weeks** * **_Perioperative radiotherapy_** * **700-800cGy \< 4hours pre op or within 72 hrs post op** * no literature support * thought to be effective against Osteoblast differentiation * prevents proliferation/differentation of pirmordial mesenchymal cells Post traumatic * **Wide exposure and surgical ressection** * for severe loss of rom * timings contraversial - 6 mths General surgery, 1 year Spinal cord injury * fu with 5 days course of indomethacin
52
Describe the complications of HO?
* **Haematoma and post op bleeding** * **Infection** * higher rate of infection post Thr if HO present * **Fx of osteoporotic bone** * osteopenia from diuse * during surgery/physio * **Recurrence** * \> if neurological compromise * **AVN**
53
what is tumoral calcinosis?
* **Rare** * **Calcium salts deposited in extra-capsular soft tissues** * more common in * **Females** * **Afro-Caribbean** * typcially occurs around joints * **shoulders** * **hips** * Unknown pathophysiology but thought to be due to abnormality of **Phosphorus metabolism**
54
Describe the associated conditions of tumoral calcinosis?
* Calcinosis of Renal Failure * similar to tumour calinosis but not so concentrated to hips/shoulders * assoc with hyperphosphataemia, chronic renal failure, long term dialysis
55
What are the presentations of tumoral calcinosis?
* Mass and swelling typically around joints * Pain secondary due to compression O/E * Palpable mass
56
What seen on imaging of tumoral calcinosis?
_xrays_ * **circular or oval well demarcated masses of calcium around joint** * direct involvement of bones/joint rare _Ct/MRI_ * Demonstrate masses with fluid levels _Bone scan_ * increase uptake in calcific masses
57
What is the tx of tumoral calcinosis?
_Non operative_ * **Observation** * for non symptomatic pts _Operative_ * **Complete surgical excision** * for symptomatic lesions * complete surgical resection to reduce chance of reocurrance
58
What is this ?
* Bone infarct
59
What is a bone infarct?
* Thought to be same spectrum as osteonecrosis * occurs within **_Metaphysis_** or **_Diaphysis_** of long bones * risk factors * **Trauma** * **Sickle cell** * **Connective tissue disorders** * **Gaucher's disease** * **Steriod use** * Aetiology**= Interuption of blodd supply by intrinsic/extrinsic factors**
60
What is the presentation of bone infarcts?
* often Asymptomatic * Insidential finding
61
What is seen on imaging of bone infarcts?
* Xrays * **Medullary lesion of sheet like central lucency surrounded by sclerosis with a serpiginous border** * **"Smoke up the Chimney"** * **​MRI** * **​Central signal remains of normal marrow- see pic** * **T2** * acute infarct may show ill-defined non-specific area of high signal * intense inner ring of granulation tissue and a hypointense outer rong of sclerosis * **Bone scan** * _Cold in early phases_ * hot in resorptive/revascualrisation phase
62
What is the tx of bone infarcts?
* _Non operative_ * **Observation** * usually asymptomatic no tx required
63
What is focal fibrocartilaginous dysplasia?
* **A Benign Dysplasia -\> Unilateral varus of tibia** * Usually seen in **infants/toddlers** * _Aetiology and pathogenesis unknown_
64
What is the presentation of focal fibrocartilaginous dysplasia?
* Unilateral Tibial Vara * Knee Hyperextension with lateral thrust
65
What is seen on xray of focal fibrocartilaginous dysplasia?
* **Abrupt varus at Metaphyseal- Diaphyseal junction** * **Cortical sclerosis at Medial cortex** * Radiolucency may appear just proximal to area of cortical sclerosis corresponding to fibrocartilaginous tissue
66
What is the histology of focal fibrocartilaginous dysplasia
* A prominent layer of collagenic fibrous tissue with thick dense fibrocartilagenous tissue
67
What is the tx of focal fibrocartilaginous dysplasia?
_Non operative_ * **Observation** * _majority spontaneously correct_ beacuse of the normal proximal tibial physeal growth _Operative_ * **Deformity correction** * maybe necessary if the deformity progresses or fails to resolve during a period of observation or orthotic management

Pathology FRCS (20 decks)

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