MSK Flashcards
Osteogenesis imperfecta
AD, no type I collagen (bone matrix formation impaired)
- fx at birth, blue sclera, deafness, sm teeth
Achondroplasia
- sx
AD, constitutively act’d FGFR3 gene (mutations incr w/ dad’s age) -> inhib’s chondrocyte prolif, bad cartilage at growth plates
- short arms/legs but nl head/axial sk (bc are membranous ossification not endochondral)
Osteopetrosis
- mutation?
- sx
AR (severe) or AD (less severe), bad osteocl’s -> incr’d bone formation (see persistence of 1* unmineralized spongiosa in medullary canals)
- CA II mutation so no acidic envt for osteoclasts to work
- fx, visual/hearing loss (CN compression)
Osteomyelitis usu at? usu due to?
- In Sickle cell due to?
- Draining sinuses at higher risk of?
Metaphysis (tibia, fibula) in kids and epiphysis (from open wound) in adults
S. aureus
Salmonella paratyphi
SCC
Osteoporosis = 2* causes Trtmt Type I = Type II =
loss of mineralized bone & organic bone matrix (osteoid)
- incr’d cortisol, heparin, hypogonadism, malnut’n, space travel
- bisphosphonates (inhib resorption)
I = postmenopausal (decr’d estrogen)
II = senile type
Osteochondrosis
aseptic necrosis of ossification center in kids
Legg-Calve-Perthes dz
osteochondrosis; aseptic necrosis of femoral head ossification center in boys 3-10yo
Osteochondritis dissecans
usu due to?
most common site
late comp?
Osteochondrosis limited to articular epiphysis
- trauma, or ischemia
- distal femur
- OA
Osgood-Schlatter dz
painful swelling of tibial tuberosity in boys (at insertion of patellar tendon) -> knobby-appearing knees
Paget’s dz of bone
- See incr’d?
Osteoclastic phase -> osteoblastic phase, so have thick weak bone (mosaic, woven, bone)
- Alk phos
Fibrous dysplasia
defect in osteoblastic differentiation and maturation -> medullary bone replaced by fibrous tissue w/ cyst formation, usu in ribs or femur
McCune-Albright’s synd
unilat polyosteotic bone involvement (fibrous dysplasia, cysts in bones bc no osteobl’s), cafe au lait spots, precocious puberty
1* malignant tumors of bone in decr’ing order of freq?
MM > osteogenic sarcoma > chondrosarcoma > Ewing’s sarcoma
Osteomalacia/Rickets
- low serum phos from?
- incr’d serum what?
VitD defic -> can’t mineralize/calcify osteoid (see osteoid matrix accum around trabeculae and widened osteoid seams)
- low VitD -> low serum Ca -> high PTH -> low serum phos
- alk phos from high osteobl activity
Giant cell tumor (osteoclastoma)
- age, gender, location
- XR shows
- histo
- 20-40yo, F>M, in epiphyseal end of long bones (distal femur or prox tibia)
- double bubble or soap bubble
- spindle-shaped cells w/ multinuc’d giant cells
Osteochondroma =
benign lat projection from growth plate, cartilagenous cap (metaphysis of distal femur)
Osteosarcoma
- in who?
- location?
- XR shows
- M>F, 10-20yo
- metaphysis of long bone (distal femur, prox tibia)
- Codman’s triangle (from elevation of periosteum) or sunburst pattern
Ewing’s sarcoma
- who gets it?
- location
- derived from
- see what on histo?
- genetics?
- boys <15yo
- diaphysis of long bones, pelvis, scapula, ribs
- from neuroectoderm
- onion-skin appearance in bone (new bone growth around tumor), sm blue cell in tumor
- t(11;22)
Chondrosarcoma =
- who gets it
- mets to?
malig cartilaginous tumor in medullary cavity of diaphysis
- M 30-60yo
- lungs
Osteoma
- location
- assoc’d w/?
- facial bones
- Gardner’s polyposis synd
Osteoid osteoma =
- location (on XR?)
- pain?
benign tumor of osteobl’s surrounded by rim of rctive bone (osteoma)
- long bone cortex in diaphysis (on XR see bony mass w/ lucent core)
- resolves w/ ASA
Osteoblastoma =
like osteoid osteoma but in vertebra and no pain response to ASA
OA =
- Other findings
- Sx
- On fingers see?
noninflamm jt dz, from wear and tear, progressive degen of articular cartilage
- osteophytes at jt margins; clefts, subchondral cysts; no fusion of bone
- Jt stiffness after inactivity
- Heberden’s (DIP) nodes and Bouchard’s (PIP) nodes
Ochronosis (alkaptonuria) =
- causes?
AR, defic of homogentisic acid oxidase -> accum of homogentisic acid (urine turns blk when ox’d) -> deposits in intervertebral discs -> OA and other systemic findings