MSK Pathology Flashcards
Achondroplasia
No long bone growth Normal trunk length and head size FGFR3 mutation AD ↑ risk with ↑ paternal age
Thanatophoric dysplasia
lethal dwarfism
FGFR3 mutation
small chest cavity
die soon after birth
Osteogenesis imperfecta (type 1 vs type 2)
Brittle bone disease (fractures decrease with age)
blue sclera
brittle teeth
hearing loss
Type 1 → most common and mildest
Type 2 → lethal
Type 3 → blue sclera
Type 4 → white sclera
Osteoporosis
Most commonly due to ↑ resorption due to ↓ estrogen
Also causes from ↓ physical activity (immobility, astronauts)
-2.5 Standard deviations below normal bone mass
vertebral compression fractures
Normal Ca+2, PO4, ALP, and PTH
↓ bone mass
Osteopetrosis
↓ resorption due to defective osteoclasts
thickened, dense bones that are prone to fracture
Carbonic anhdrase II deficiency
Nerve compression (deafness)
↓ bone marrow → pancytopenia
erlenmeyer shaped long bones
Osteitis deformans
aka Paget disease bone remodelling pathology warm skin over affected bones and ↑ fractures/bowing chalk stick fractures of legs mosaic pattern of lamellar bone ↑ ALP normal Ca+2, PO4, and PTH
Stages:
Lytic → osteoclasts
Mixed → osteoclasts and osteblasts
Sclerotic → osteoblasts
↑ risk of osteosarcoma
Osteomalacia
Rickets in adults defective mineralization → ↑unmineralized matrix Vit D deficiency ↓ Vit D, ↓ Ca+2, ↓ PO4, ↑ PTH
Avascular necrosis of bone
Infarction of bone and marrow
Very painful
Causes: Fractures corticosteroid use Alcoholism Sickle cell SLE Gaucher disease (lysosomal storage dx)
Osteomyelitis
S. aureus most common
Salmonella → sickle cell
E coli, pseudomonas, klebsiella → UTI or IV drug use
Sequestrum → dead bone
Involucrum → shell of living bone
Tuberculous spondylitis (Pott disease)
mycobacterial osteomyelitis of the spine
permanent compression fractures
skeletal syphilis
Saber shin
saddle nose
Blue sclera
osteogenesis imperfecta
chalk stick fracture
osteitis deformans
Mosaic pattern of lamellar bone
osteitis deformans
RANK
Resorption (breakdown)
OPG
Builds
WNT
Builds
Sclerostin
inhibits WNT
M-CSF
↑ osteoclast production (remember that -clasts are macrophages)
carbonic anhydrase 2 deficiency
osteopetrosis
railroad tracks
dissecting osteitis
Osteochondroma
benign young males bony projection out of metaphysis cartilage cap multiple osteochondromas → ↑ risk of osteosarcoma