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MSK2
Achondroplasia
Mechanism
Autosomal Dominant
Advanced Paternal Age
Most Common Cause of Dwarfism
Mutation of FGFR3 (Fibroblast Growth Factor Receptor 3)
Defective Endochondral Ossification
Symptoms
Delayed Motor Milestones
Shortened Limbs with Normal Axial Skeleton Size
May Develop Hydrocephalus
Symptoms of Spinal Stenosis
Normal Life Span and Fertility
2 mins
Alendronate (Fosamax)
Mechanism
Inhibits Osteoclasts
Indications
Osteoporosis
Paget's Disease
Side Effects
Esophageal Ulcers
Musculoskeletal Pain
Vision Changes
Atrial Fibrillation
Osteonecrosis of the Jaw
Considerations
Take on Empty Stomach
Remain Upright
2 mins
Chondrosarcoma
Pathophysiology
Cartilaginous tumor
Malignant
Men 30-60 years old
Pelvic and femur bones
Signs & Symptoms
Glistening mass in medullary cavity
Can be primary in origin or from osteochondroma
Metastasize to lungs
1 min
Ehlers-Danlos Syndrome Disease
Pathophysiology
Faulty Collagen Synthesis
Autosomal Dominant or Recessive
Various Severities
Signs and Symptoms
Hypermobile Joints
Hyperextensible Skin
Easy Bruising/Bleeding
Berry (Saccular) Aneurysm
Considerations
Brighton Criteria
2 mins
Ehlers-Danlos Syndrome Types
Types
Types 1 and 2 - Classical
Type V Collagen Mutation
Joints and Skin
Type 3 - Hypermobility
Most Common
Tenascin X Deficiency
Joint Instability
Type 4 - Vascular
Type III Collagen Mutation
Vascular and Organ Rupture
2 mins
Ewing's Sarcoma
Epidemiology
Most Common in Boys < 15 years old
Pathophysiology
11;22 Translocation
Characteristics
Long bones, Pelvis, Ribs
Diaphysis
Small Blue Cells
Malignant
Aggressive
Onion-skin Appearance
TREATMENT
Responsive to Chemotherapy
2 mins
Giant Cell Tumor
Pathophysiology
Osteoclastoma
Epiphyseal End of Long Bones
Peak Incidence 20-40 Years
Benign
Knee Region
Diagnosis
Soap Bubble Appearance on X-ray
Spindle-shaped Cells
Multinucleated Giant Cells
46 secs
Marfan Syndrome
Mechanism
Fibrillin-1 Mutation
Symptoms
Autosomal Dominant
Tall
Arachnodactyly
Pectus Excavatum
Hypermobile Joints
Aortic Aneurysm And Dissection
Mitral Valve Prolapse (MVP)
Subluxation of Lens (Superior)
2 mins
Osteoarthritis
Mechanism
Articular Cartilage Destruction
Biomechanical Stress
Aging
Signs and Symptoms
Asymmetric
Pain Decreases with Rest
Morning Stiffness Under 30 Minutes
Crepitus
DIP and PIP Joints
Treatment
Lifestyle Changes
Acetaminophen or NSAIDs
2 mins
Osteoarthritis Interventions
Lifestyle Modifications
Balance Rest and Activity
Therapeutic Exercise
Heat and Cold Applications
Drug Therapy
Intra-articular Injection
NSAIDs
Considerations
Reconstructive Joint Surgery
1 min
Osteogenesis Imperfecta
Pathophysiology
Autosomal Dominant
Decreased Type I Collagen Production
Symptoms
Phenotypically Diverse
Brittle Bone Disease
Fractures from Minimal Trauma
Confused with Child Abuse
Hearing Loss
Dental Imperfections
Blue Sclera
1 min
Osteoid Osteoma and Osteoblastoma
Characteristics
Benign Bone Tumors
Osteoid Osteoma
Osteoid Osteoma
Cortex of Long Bones
Pain Relieved by NSAIDs
Pain Worse at Night
<2 cm
Radiolucent Nidus with Surrounding Sclerosis
Osteoblastoma
Osteoblastoma
Spine
Pain Not Relieved by NSAIDs
> 2 cm
Radiolucent Nidus without Surrounding Sclerosis
Management
Surgery
3 mins
Osteopetrosis (Marble Bone Disease)
Pathophysiology
Defective Osteoclast Resorption
Carbonic Anhydrase II Mutation
Lack of Acidic Environment
Symptoms
Fractures
Nerve Palsies
Diagnosis
Myelophthisic Anemia
Erlenmeyer Flask Bones
Normal ALP and PTH
Normal Calcium and Phosphorus
Bone-in-bone Appearance
Treatment
Bone Marrow Transplant
2 mins
Osteoporosis Assessment
Highest Risk
Postmenopausal Women
Long Term Corticosteroids
Assessment
Kyphosis
Dowager's Hump
Loss of Height
Back Pain
Pathologic Fractures
Spinal Compression Fracture
1 min
Osteoporosis Interventions
Increased Calcium Intake
Vitamin D Supplements
Bisphosphonates
Raloxifene
Denosumab
Calcitonin
Teriparatide
Bone Densitometry (DEXA) Scan
Weight Bearing Exercises
2 mins
Osteosarcoma
Pathophysiology
Osteogenic Sarcoma
Peak incidence men 10-20 years old
Metaphysis of Long Bones
Knee Region
Radiation
Familial Retinoblastoma
Paget's Disease
Diagnosis
Codman Triangle
Sunburst Pattern from Elevated Periosteum
Grave Prognosis
2 mins
Paget's Disease of Bone
Pathophysiology
Men > Age 40
Increased Osteoblast and Osteoclast activity
Mosaic Pattern
Signs and Symptoms
Increased Skull Diameter
Hearing Loss
Fractures
Bone Ache and Joint Pain
High Output Heart Failure
Diagnosis
Bone Scan
Normal Parathyroid hormone (PTH) and Calcium
Elevated ALP
Treatment
Bisphosphonate
Calcitonin
2 mins
Rheumatoid Arthritis Assessment
Mechanism
Destruction of Connective Tissue and Synovial Membrane
Signs and Symptoms
Inflammation of Joints
Morning Stiffness
Nodules
Joint Deformities
1 min
Rheumatoid Arthritis Interventions
Lifestyle Modifications
Heat and Cold Applications
Therapeutic Exercise
Balance Rest and Activity
Drug Therapy
NSAIDs
DMARDs
Glucocorticoids
Considerations
PT/OT
Reconstructive Joint Surgery
2 mins
Vitamin D Deficiency
Signs & Symptoms
Rickets in children
Bending bones
Rachitic rosary
Breast milk has decreased vitamin D
Osteomalacia in adults
Tetany from Hypocalcemia
2 mins
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