DIT review - MSK 1 Flashcards
Differentiate between the two types of bone formation: endochondral and membranous ossification
- Endochondral ossification
- Chondrocytes lay down cartilage matrix first
- Osteoclasts and osteoblasts replace cartilage with woven bone, then remodel to lamellar bone
- Occurs in axial skeleton, appendicular skeleton, and base of skull
- Membranous ossification
- Woven bone formed directly without cartilage, then later remodeled to lamellar bone
- Occurs in skull and facial bones
What is the mutated gene in achondroplasia, and what is its normal function
- Achondroplasia is a defect in endochondral ossification
- Defect of FGFR3 (gain-of-function)
- Normally responsible for inhibition of cartilage proliferation
- Constitutive activation of FGFR3 = inhibited chondrocyte proliferation
- Autosomal dominant with full penetrance
- Homozygosity is lethal
- Defect of FGFR3 (gain-of-function)
What are the 2 main benign and 2 main malignant primary bone tumors?
Benign: Osteochondroma, Giant cell tumor
Malignant: Osteosarcoma, Ewing sarcoma
What part of the bone (diaphysis, metaphysis, or epiphysis), do the following tumors occur:
- Osteochondroma
- Giant cell tumr
- Osteosarcoma
- Ewing sarcoma
- Diaphysis:
- Osteoid osteoma
- Ewing sarcoma
- Metaphysis:
- Osteosarcoma
- Osteochondroma
- Epiphysis:
- Giant cell tumor
What bone tumor is a lateral projection with overyling cartilage cap?
Osteochondroma
What is Codman triangle, and what tumor is it associated with
Elevation of the periosteum due to tumor
Seen in osteosarcoma
What bone tumor is associated with “onion-skin” appearance
- Ewing sarcoma
- X-ray reveals “onion-skin” appearance – tumor grows within medullary center of bone, pushing outwards and causing periosteum (outer layer) to lay down new layers of bone
- THINK: eWING = Chicken WINGS and onion rings
What tumor is associated with “soap bubble” appearance
Giant cell tumor (“osteoclastoma”)
Soap bubbles are in the epiphysis and Giant cell tumor is the only one in the epiphysis
What tumor is associated with sunburst appearance on x-ray
Osteosarcoma
- THINK: osteoSarComa (S = sunburst and C = Codman)
Which bones are usually affected in giant cell tumor
- distal femur or proximal tibia (knee region)
What are the proliferating cells involved in Ewing Sarcoma
Poorly differentiated cells derived from neuroectodem
Biopsy reveals small round blue cells resembling lymphocytes
What translocation is associated with Ewing sarcoma
t(11;22)
THINK: 11 + 22 = 33 (Ewing’s jersey number)
What is the defect in osteogenesis imperfecta
- Defect in Collagen type I
Presentation of osteogenesis imperfecta
Clinical features:
Multiple fractures
Blue sclera (exposure of choroidal veins)
Hearing loss (fracture of bones of middle ear
What is the basic premise behind osteoporosis
- Reduction in trabecular (spongy) and cortical bone mass loss
- Usually due to increased bone resorption (osteoclast > osteoblast)
Causes of osteoporosis
- Old age
- Decreased estrogen levels
Describe the labs in osteoporosis (calcium, phosphate, PTH, and alkaline phosphatase)
All labs are normal
What disease is due to disordered bone remodelling due to increased osteoclastic and osteoblatic activity
- Paget disease of the bone
What disease is due to disorder of bone resorption (decreased osteoclast function)
Osteopetrosis