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(Know: location, axial vs appendicular, radiologic image (circumscribed, permeativebenign, malignant), age of pt populations, clinical

presentation usually the same for all. Know the images.)


A. Bone basics
1. Osteoid: unmineralized bone matrix. Matrix: made of collagen type I, various proteins. Minerals: Hydroxyapatite.
2. Bone Types: Woven (normal in fetal skeleton, growth platein adult, indicates a healing fracture, infection, or tumor); and Lamellar
(orderly; includes lamella in the cortex (=circumferential, concentric, and interstitial patterns) and lamella in the medulla
(cancellous/spongy bone, trabecular)
3. Metaphysis (growth plate), epiphyses, diaphysis
4. Bone cells
a. Osteoblasts: synthesize and arrange matrix proteins, do mineralization, and have Rs for PTH, Vit D, Estrogen. Become
osteocytes when trapped in matrix.
b. Osteocytes: connected with canaliculi (gap junctions): detect mechanical forces, control serum calcium and PO4
c. Osteoclasts: resorb bone, Howship lacunae, multinucleated
5. Bone growth
a. Endochondral: build bone from cartilage model long bones
b. Intramembranous: flat bones, skull, clavicle
c. Primary ossification (diaphysis), secondary in epi/apophysis
Non-Neoplastic Bone Disease
Disease
Polydactyly (extra
bones), Syndactyly
(fused bones), absent
bones
Craniorachischisis
(spina bifida)
Achondroplasia
(Dwarfism)
Thanatophoric
Dwarfism

Defect

Failure of posterior element fusionmeningocele


(dura protrusion), meningomyelocele (open spinal
cord)
FGFR point mutation, AD and new mutations

FGFR missense mutation

Clinical Features

Short proximal extremities, large head, bulging forehead,


depressed nose root, normal trunk, longevity,
intelligence, fertility
Lethal
-micromelic (extremely short) limbs, bell-shaped
abdomen, brain abnormal, macrocephaly, frontal bossing,

Osteogenesis imperfecta
Osteopetrosis

Osteoporosis (OP)

Paget Disease of Bone

Type I collagen defect (mutated alpha chains),


varying severity
Osteoclastic dysfunction (OCs not removing woven
bone for remodeling)

Pathogenesis: 1) menopauselow estrogen,


increased interleukins, RANK/RANKL expression
activated OCs= resorb bone
2) senile: osteoprogenitors not replicating well, OBs
not working well, patient isnt exercising bone not
being built
OCs overactive. 3 phases: 1) OCs working, OBs do
nothing, 2) OCs and OBs working but OB lays
down bone improperly, 3) OCs burn out, OBs
building, but bone is very sclerotic, dense, and weak

small chest cavity respiratory insufficiency death


Brittle Bone Disease: fractures, blue sclerae, hearing
loss, dental imperfections
Marble Bone Disease.
-Dense, brittle bones (because woven)
-Erlenmeyer flask deformity
-Absent medulla!
=fractures, anemia, hepatosplenomegaly
Histo: No medulla
Primary OP: postmenopausal, senile
Postmenopausal: cancellous/spongy bone, esp. in
vertebral bodies fractures and collapse
Senile: thinned cortex

Mosaic bone.
Anterior bowing of femur/tibia
Secondary OA
Chalk stick fractures, compression fractures
Hypervascularity cardiac failure
Tumors can occur

Non-Neoplastic Bone Disease


Disease
Rickets (children),
Osteomalacia (adults)

Defect
Vit D deficiency or abnormal metabolism of vit D
excessive unmineralized matrix soft bone

Clinical Features/Other
-Craniotabes (flat back of head), frontal bossing, rachitic
rosary, pigeon breast deformity, Harrison groove,
increased lumbar lordosis, leg bowing

Hyperparathyroidism

Primary hyperparathyroidism (adenoma/hyperplasia),


Secondary (renal failure)

-PTH stimulates OBs, OBs stimulate OCs Calcium


release

-features: Cortical cutting cones, dissecting osteitis


- Unabated Osteoclastic Activity-> Giant cell tumor-like
mass brown tumor: reactive fibrous tissue,
hemorrhage, hemosiderin
Stones, bones, abdominal groans, and psychiatric
moans
Renal Osteodystrophy

Fractures

Increased PO4 retention (due to kidney


failure/dialysis, I think) Vit D uptake/metabolism
decreases Ca decreases secondary
hyperparathyroidism as a result OC activity
increases
Fracture descriptors
-complete vs incomplete
-closed (soft tissue intact) vs compound (open
wound)
-comminuted (in multiple pieces) vs simple (2 pieces)

Metabolic acidosis, beta 2 amyloid, Fe and Al (from


dialysis) deposits into bone
Skeletal changes: can get osteoclastic bone resorption,
osteomalacia (delayed matrix mineralization),
osteosclerosis, osteoporosis, growth retardation in kids
Fracture healing
Procallus (soft tissue, hematoma, fibrin, fibroblasts,
capillaries) bony callus (woven bone, cartilage,
enchondral ossification) callus remodeling (medullary
canal restoration, normal structure)
Abnormal healing if displaced fracture, comminuted,
infection, mineral/vit deficiencies, or other disease

Osteonecrosis

Ischemic infarct of bone

Due to mechanical vascular interruption, corticosteroids,


emboli, etc.

Bone Tumors
Disease
Bone Forming Tumors

Location

Radiograph, Gross, Histo

Patient Population

Other

Osteoma, benign

-Skull, facial bones


-Usually solitary

Histo: woven and lamellar


bone, similar to reactive
bone.

Middle aged adults

-grows slowly
-Gardner syndrome:
multiple osteomas, GI

Osteoid Osteoma and


Osteoblastoma, both
benign

Osteoid osteoma:
appendicular skeleton
(femur/tibia)
Osteoblastoma: central
skeleton

Osteosarcoma

-Metaphysis of long bones


(often around knee)
-sometimes in flat bones
(elderly): mandible,
maxilla, pelvis

adenomas, epidermal cysts,


fibromatosis
Osteoid osteoma: smaller
than 2 cm, severe night
pain which is relieved by
aspirin, occurs in
appendicular skeleton
(femur/tibia), surrounding
reactive bone

Radio: Well circumscribed


nidus in
center/radiolucency, with
reactive bone around it
Histo: trabeculae of woven
bone, OBs rimming, loose
CT with capillaries (looks
like granulation tissue)

Radio: destructive.
Permeative
margins/sunburst
appearance. Codman
triangle: raised periosteum,
reactive periosteal bone
formation.
Gross: bulky, gray-white,
hemorrhage. See cortical
destruction with a soft
tissue mass. Can invade
the joint/epiphyseal plate.
Histo: Pleiomorphic
nuclei, mitotic figures,
random bone formation

Bimodal age distribution:


75% younger than 20 years
old; peak in elderly (due to
paget disease, radiation,
etc)

Osteoblastoma: bigger than


2 cm, pain is NOT relieved
by aspirin, occurs in
CENTRAL skeleton, no
reactive bone
Most common primary
malignant tumor of bone
-lung metastases
-60% long term survival

errywhere
Cartilage Forming
Tumors
Osteochondroma, benign

Enchondroma, benign

Chondroblastoma, benign

Enchondral bones only


often knee (then axial
skeleton)

Metaphysis of tubular
bones (fingers, toes);
usually solitary
-in enchondral bones and
is intraosseus (cartilage
tumor inside the bones)

Epiphyses and apophyses,


usually around knee

Bony stalk with a hyaline


cartilage cap, sticking out
adjacent to underlying
bone. Is continuous with
its medullary cavity.
Radio: Well circumscribed
oval lucency inside the
bone
-scalloping of endosteum
-irregular calcification of
the matrixwhatever that
means
Gross: <3 cm, gray-blue,
translucent, nodules of
hyaline cartilage and
benign looking
chondrocytes, with
enchondroal ossification in
the periphery
Radio: well defined
lucency with spotty
calcification
Histo: chicken wire
calcification, OC-type
giant cells, cellular sheets
of chondrocytes,
hyperlobulated nuclei,

Late teens, early


adulthood.
M 3x>F
Age: 20s-40s

Stops growing when


growth plate closes; can be
painful if nerve
impingement.
Tumor of hyaline cartilage
that is inside the bones
-usually asymptomatic
-Hereditary syndromes:
Ollier (multiple
enchondromas), Mafucci
(enchondromas and
hemangiomas)

Teens
M:F:2:1

-rare
-painful joint effusion,
restricted movement
-weirdly enough, can cause
metastases to the lungs

Chondromyxoid fibroma,
benign

Metaphyses of long bones

necrosis, mitoses
Radio: eccentric lucency,
surrounding rim of
sclerosis, expanded cortex

Teens and 20s

Rarest cartilage tumor

M 2x>F

Gross: 3-8 cm, well


circumscribed
Histo: stellate and spindle
cells, OC-type giant cells,
nodules of poorly formed
hyaline cartilage, myxoid
tissue, fibrous septae
Chondrosarcoma

Central skeleton (pelvis,


shoulder, ribs)
Clear cell
chondrosarcoma:
epiphyeses of long bone

Radio: endosteal
scalloping (due to
resorption of inner
marginal of cortical bones
recall that Pathoma says
cartilage tumors occurs in
the medullary space),
flocculent calcification
Gross: malignant
hyaline/myxoid cartilage,
bulky, gray-white, expands
into adjacent cortex and
soft tissues
Histo: pleiomorphic large
chondrocytes

40s or older
M 2x>F

Second most common


primary malignant tumor
of bone

Clear cell variant Histo:


large malignant
chondrocytes with
abundant clear cytoplasm,
many OC-type giant cells,
reactive bone formation
Mesenchymal variant
Histo: well differentiated
hyaline cartilage
surrounded by small round
cells
Fibrous Tumors
Fibrous Cortical Defect,
benign

Distal femur or proximal


tibia

Nonossifying fibroma,
benign

Distal femur or proximal


tibia

Fibrous dysplasia, benign

Monostotic: ribs most


common location, then
femur, then tibia, then jaw.
Polyostotic: femur most
common location, then
skull, then tibia, then

.5 cm in size (smaller than


nonossifying fibroma)
Radio: elongated, sharply
demarcated radiolucency,
thin rim of sclerosis
Histo: storiform pattern of
fibroblasts and histiocytes
Gross: brown-yellow
5-6 cm
Same as fibrous cortical
defect for radio, histo,
gross
Radio: well defined
margin, ground glass
appearance
Gross: well circumscribed,
intramedullary

Common, in 30-50% of
children >2 yrs

Developmental defect,
resolves on its own,
asymptomatic

Detected in adolescence

Developmental defect, if
larger can get fracture but
otherwise asymptomatic
Developmental arrest of
OBsbone is replaced by
fibrous stroma and woven
bone. Immature elements.
Varieties:
-monostotic (1 bone,

Miscellaneous Tumors
Ewing Sarcoma &
Primitive Neuroectodermal
Tumor (PNET), malignant

humerus 50-100% of
patients will have
craniofacial involvement.
Also get shoulder/pelvic
girdle deformities,
fractures

Histo: curvilinear
trabeculae of woven bone
with surrounding
fibroblasts= Chinese
characters

Diaphysis of long bones,


(especially femur), and the
flat bones of the pelvis

Radio: destructive lytic


lesion, onion skin layers of
reactive bone, cortex
invasion through
medullary cavity
Histo: small round blue
cells, Homer-Wright
rosettes
Gross: tan-white,
hemorrhage, necrosis

asymptomatic, deformity if
craniofacial)
- polyostotic (multiple
bones, get fractures and
deformities)
- polyostotic with
endocrinopathy (McCune
Albright Syndrome): in
addition to polyostotic
features, cafe au lait spots,
endocrine abnormalities
(sexual precocity,
hyperthyroidism, pit.
Adenoma, adrenal
hyperplasia)
Age: 10-15 years, whites

11:22 transolcation
Second most common
bone sarcoma in children
after osteosarcoma
Ewing: cells are
undifferentiated
PNET: cells have neural
differentiation
Painful, enlarging mass
with tenderness, warmth,
swelling; systemic signs
with fever, anemia,
leukocytosis, etc

Giant Cell Tumor:


osteoclastoma, benign
but locally aggressive

In the KNEE
Metaphysis in adolescents
Metaphyis or epiphysis in
adults

Aneurysmal bone cyst,


benign

Metaphysis of long bones

Metastatic disease

Most commonly axial


skeleton, then proximal
femur, then humerus

Radio: purely lytic,


eccentric, subchondral
plate erosion
Histo: multinucleated giant
cells, mononuclear cells
(same nuclei in both
types); necrosis, reactive
bone, hemorrhage
Radio: imaging, eccentric,
expansile lytic lesion
CT/MRI: septations
Histo: blood-filled cystic
spaces, sepate.etc
Radio: lytic, blastic or
mixed

Adolescents adults,
20s-40s

<30 yrs

T(17:13) but who really


cares

Most common form of


skeletal malignancy
Adults: prostate, breast,
kidney, lung
Kids: .various