high yield bone, joints, soft tissue Path Flashcards
radiograph: decreased cortical thickening
Osteoporosis
radiograph: diffuse, dense bone
Osteopetrosis
Radiograph: thickening of calvarium
Osteitis deformans (Paget disease of bone)
Xray: irregular lucencies with adjacent sclerosis
MRI: dark serpiinous necrotic bone
Osteonecrosis
bamboo spine
Ankylosing spondylitis
X ray: Soap bubble appearance
Giant cell tumor
X ray: Exotosis of bone
Osteochondroma
X ray: sun burst pattern/Codman triangle around metaphysis of long bones
Osteosarcoma
X ray: “onion skin” around diaphysis of long bone
Ewing sarcoma
Osteoporosis is dysfunction of what cell
osteoblast
Dowager’s hump: increased cervical lordosis and dorsal kyphosis
osteoporosis
Osteopetrosis is dysfunction in what cells
osteoclasts
Gene for osteopetrosis
Carbonic anhydrase
gene for Paget Disease
SQSTM1
what labs elevated in Paget disease of bone
Alk Phos
increase in hat size
Paget disease
Osteonecrosis of femoral head. what artery
medial circumflex femoral artery
HLA associated with Ankylosing spondylitis
HLA-27
cartilage capped tumor that is attached to underlying skeleton by bony stalk
osteochondroma
Herbeden nodes and Bouchard nodes
OA
Swan neck deformity and Boutonneire’s deformity
RA
genetic factors for RA
- HLA-DRB1
- PTPN22
antibodies against citrullinated peptides
RA
highlights for Juvenile idiopathic arthritis
- before 16
- lasts at least 6 weeks
- more common in large joints
- Absent RF and rheumatoid nodules
- ANA+
Seronegative spondyloarthropathies are pathologic changes of what?
Give the general highlights
ligamentous attachments, not synovium
- SI joints
- Absence of RF
- HLA-B27 association
what are the seronegative spondyloarthropathies?
- Ankylosing spondylitis
- Reactive arthritis
- Enteritis associated arthritis
- Psoriatic arthritis
arthritis + non-gonococcal urethritis or cervicitis + conjunctivitis
reactive arthritis
what probably causes reactive arthritis
autoimmune reaction initiated by prior infection of GU system by chlamydia
clinical finding in reactive arthritis
- synovitis of digital tendon sheath–>sausage finger/toe
- ossification of tendoligamentous insertion sites –>calcaneal spurs/bony outgrowths
- Extraarticular findings: conjunctivitis, inflammatory balanitis, aortic regurg
pencil in cup deformity
psoriatic arthritis
association with different organisms and suppurative arthritis: children < 2?
Adults?
Sickle cell disease?
Sexually active individuals?
- H. flu (gram-neg coccobacillus)
- S. aureus (gram-pos cocci)
- Salmonella (gram-neg rod)
- N gonorrhea (gram neg diplococcus)
tophi
gout
rhomboid crystals with positive birefringence
Calcium pyrophosphate deposition disease (pseudo-gout; chondrocalcinosis)
age for gout?
age for calcium pyrophosphate deposition disease?
- men>30
- over 50
osteosarcoma gene
p53 and RB
key features of Ewing sarcoma
- boys <15
- malignant
- diaphysis of long bones
- destructive lytic tumor that extends into surrounding soft tissue
- periosteal reaction
Diaphysis tumors
- Ewing
- myeloma
- osteoid osteoma
Metaphysis tumors
- Osteosarcoma
- osteochondroma
Epiphysis tumors
Giant cell tumor
Homer wright rosettes
Ewing sarcoma
spongiosa filling the medullary canal with no mature trabeculae
osteopetrosis
Trabecular thinning with fewer interconnections
osteoporosis
Lemellar bone structure resembling mosaic
paget disease
inheritance of osteopetrosis
AD
sandwich vertebrae: dense bands of sclerosis parallel to endplates?
Osteopetrosis
pancytopenia
osteopetrosis
what besides fracture can cause osteonecrosis
-Corticosteroid use
- Crescent sign
- Double line sign
- Rim sign
osteonecrosis
biopsy of non neoplastic osteoclasts and their precursors
Giant cell tumor
biopsy of primitive round cells without obvious differentitation
Ewing
biopsy of cells with increased osteoid production
osteosarcoma
defective mineralization of osteoid
Osteomalacia
what are the skull deformities seen in paget disease
- diploic thickening of inner and outer calvarium
- cotton wool appearance: mixed lytic and sclerotic lesions
- Frontal bone enlargement
key features for osteochondroma
- can transform into chondrosarcoma
- most in males < 25
- bones of endochondral origin and arise from metaphysis near the growth plate of long tubular bones
- slow growing
- can be painless or painful if they impinge on nerve or if stalk is fractured
- pedunculated bony outgrowth at proximal tibial metaphysis
- uniform cargilagenous cap with stippled calcifications
subchondral cysts
OA
hitchhikers thumb
RA
asymmetric joint space narrowing
OA
Salter Harris fracture classification
-involves growth plate I-S (slip straight across) II-A (Above the physis) III-L (Lower than physis) IV-T (through everything) V- R (Rammed-crushed physis)
Central area of necrosis surrounded by epithelioid macrophages
Rheumatoid nodule
- RA
- intrapulmonary nodules within lung
- Pneumoconiosis
Caplan syndrome
- RA
- Splenomegaly
- Neutropenia
Felty Syndrome
things that can precipitate uric acid
- thiazide diuretics
- Tumor Lysis syndrome: Leukemia, Lymphoma
joint and age for chondrocalcinosis
- > 50
- knee
radiographs: eaten out
Ewing
- multiple fractures
- decreased hearing
- weakness of facial muscles
- thickened bones
0steopetrosis
Gene for Brachydactyly
HOXD13
Gene for Cleidocranial dysplasia
RUNX2
describe Cleidocranial dysplasia
- patent fontanelles
- delayed closure of cranial sutures
- Wormian bones
- delayed eruption of secondary teeth
- primitive clavicles
- short height
Gene for Achondroplasia and Tanatophoric dwarfism
FGFR3
which type of OI is fatal in utero
type 2
gene for OI
type I collagen (COL1A1)
- too little bone
- skeletal fragility
- blue sclera
- hearing loss
- dental imperfections
OI
other names for osteopetrosis
- Marble bone disease
- Albers-Schonberg disease
- Diffuse skeletal sclerosis but bone is brittle (woven)
- No medullary canal
- Narrowed neural foramina
Osteopetrosis
most common types of osteoporosis
- senile
- post menopausal
average age for Pagets disease of bone
70 . . old person disease
mutation for Paget
-SQSTM1 –> increase in NF-kB
diagnosis of osteoporosis
- decrease bone mass 2.5 standard dev below mean peak bone mass
- Any traumatic or vertebral compression fracture
- NO labs help
- 30-40% loss to see it on plain xray
osteomyelitis develops how in children?
adults?
- hematogenous in long bones
- open fractures, surgical procedures, diabetic infections of feet
Brodie abscess
osteomyelitis
sequestrum and involucrum
osteomytlitis
disease with multiple enchondromas (enchondromatosis)
-Ollier disease
where are chondromas found
tubular bones in hands and feet
chondromas with spindle cell hemangiomas
Maffucci syndrome
Gene for chondrosarcoma
IDH1 and IDH2
what does a chondrosarcoma present as
painful enlarging mass
severe nocturnal pain
relieved by aspirin
osteoid osteomas (<2 cm)
site for osteoid osteoma
femur or tibia
site for osteoblastoma
posterior spine
Malignant osteoid
osteosarcoma
gene for fibrous dysplasia
GNAS1
polystotic fibrous dysplasia and soft tissue myxomas (intramuscular)
Mazabraud syndrome
polystotic fibrous dysplasia associated with café-au-lait skin pigmentations and endocrine abnormalities, especially precocious puberty
McCune-Albright syndrome
what cells are prominent in RA
plasma cells
synovial cyst that forms in popliteal space in setting of RA
baker cyst
firm fluctuant pea sized mass that is translucent
ganglion cyst
genetics for tenosynovial giant cell tumor
-t(1;2) . . fusion of type VI collagen . . .leads to over expression of M-CSF
what soft tissue tumor involved translocation of X chromosome
synovial sarcoma
location of lipoma?
liposarcoma?
- superficial extremeties and trunk
- Deep soft tissue proximal extremities and retroperitoneum
genetics for liposarcoma
- t(12,16)
- amplification of MDM2
highlights for SUPERFICIAL fibromatosis
- an infiltrative fibroblastic proliferations that can cause local deformity but has an innocuous clinical course
- M>G
- Palmar (Dupuytrn contracture)
- Plantar
- Penile (Peyronie disease)
highlights for DEEP fibromatoses
- large, infiltrative masses that frequently recur but do not metastasize
- Teens to 302 in women
- Abdominal wall, limb girdle, mesentery
- APC or B-catenin mutations
- Gardner syndrome
translocated genes for Rhabdomyosarcoma
PAX and FOX
Hereditary leiomyomatosis and renal cell cancer syndrome
-LOF of fumarate hydratase gene on 1q
Morphology of synovial sarcoma
positive for epithelial markers . . keratins
genes for synovial sarcoma
SS18-SSX1