MSK, skin, connective Flashcards
defect in achondroplasia
- activating mutation of FGFR3
- inhibits growth of cartilage
- can’t do endochondral ossification
Oseogenesis inmperfecta
- type 1 collagen
- blue sclera (exposure of choroidal veins)
- hearing loss (no collagen in ear bones)
osteopetrosis
- defect in osteoclasts
- thick and heavy bone with more fractures
- BM problems (crowded out)
- vision and hearing impairment (crancial nerve compression)
- renal tubular acidosis (no carbonic anhydrase)
most common osteopetrosis defect
carbonic anhydrase II defect can’t make acidic environment
osteopetrosis treatment
BM transplant - normal monocytes
rickets/osteomalacia
- defective mineralization of osteoid
- vitamin D deficiency
- rickets in kids (pigeon breast, frontal bossing, rachitic rosary and bowing)
- osteomalacia have weak bone labs
labs in osteomalacia
- low calcium, low phosphate, high PTH, high alk phos (to lay down bone)
osteoporosis
- based on peak and rate of loss (based on diet, exercise and vit D receptor)
- estrogen is protective
- senile and postmenopausal
- low bone density with normal labs
Paget disease of bone
- imbalance of osteoclast/blast
- possibly viral
- not entire skeleton
stages of Paget
- osteoclastic
- mixed
- osteoblastic
- thick sclerotic bone with fractures
clinical in Paget
- hat size
- bone pain
- lion faces
- high alk phos (other labs normal)
Paget treatment
calcitonin and bisphosphonates
complications of Pagets
cardiac failure (shunts) and osteosarcoma (too much bone formation)
location of osteomyelitis
metaphysis in kids and epiphysis in adults
xray on osteomylitis
lytic focus surrounded by sclerosis
osteoma
- benign tumor of bone
- facial bones
- with Gardner syndrome
Gardner syndrome
- FAP
- fibromatosis in retroperitoneum (local destruction)
- and osteoma
osteoid osteoma
- tumor of osteoblasts
- rim of reactive bone
- young adults in cortex of long bone (diaphysis)
- resolves with aspirin
- bony mass with radiolucent core
osteoblastoma (differences with osteoid osteoma)
- larger
- in vertebrae
- does not respond to aspirin
osteochondroma
- most common benign tumor
- lateral projection of growth plate with cartilage cap
- can transform to chondrosarcoma
osteosarcoma
- proliferation of osteoblastic
- bimodal peak
- in metaphysis of long bones
- long bone
- Codman angle (dragged periosteum off bone)
risk for osteosarcoma
- Rb family
- Paget
- radiation
giant cell tumor
- in epiphysis of long bones (only one)
- distal femur or tibia
- soap bubble on sray
- locally aggressive
ewing
- malignant cells from neuroectoderm
- diaphysis of long bones
- onion skin from growing of medulla
- small round blue cells (lymphocytes)
- 11:22