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MSK Pathoma Ch18
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
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
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
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
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
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
Osteomyelitis
Cause/Mechanism
Bone Infection
Assessment
Warmth
Edema
Constant Bone Pain
Fever
Interventions
IV Antibiotics
Implanted Beads
Hyperbaric Oxygen
Surgical Removal of Ischemic Tissue
Considerations
Elevated ESR
3 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
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
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
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
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
Rheumatoid Arthritis Assessment
Mechanism
Destruction of Connective Tissue and Synovial Membrane
Signs and Symptoms
Inflammation of Joints
Morning Stiffness
Nodules
Joint Deformities
1 min
HLA-B27 Associations
Associations
PAIR Acronym
Psoriatic Arthritis
Ankylosing Spondylitis
Inflammatory Bowel Disease
Reactive Arthritis
1 min
Ankylosing Spondylitis
Chronic Inflammatory Arthritis
"Bamboo Spine"
HLA-B27
Uveitis
Aortic Regurgitation
1 min
Gout Disease
Acute Inflammatory Monoarthritis
Epidemiology
Primarily in Males
Pathophysiology
Precipitation of Monosodium Urate Crystals
Underexcretion of Uric Acid
Overproduction of Uric Acid
Negatively Birefringent, Needle-Shaped
Symptoms
Swollen, Red, Painful Joint
Asymmetric Joint Distribution
Podagra
Tophus
After Large Meal or Alcohol
2 mins
Polymyositis / Dermatomyositis Disease
Pathophysiology
Idiopathic Inflammatory Myopathy
More Common in Women
Endomysial Inflammation with CD8+ Cells (Polymyositis)
Perimysial Inflammation with CD4+ Cells (Dermatomyositis)
Signs and Symptoms (Both)
Symmetric Proximal Muscle Weakness
Dysphagia
Lung and Cardiac Involvement
Signs and Symptoms (Dermatomyositis)
Malar Rash
Shawl-like Shoulder Rash
Gottron Papules on Knuckles
Heliotrope Rash
3 mins
Polymyositis / Dermatomyositis Diagnosis and Treatment
Diagnosis
Increased CK (CPK)
Increased Aldolase
Anti-JO-1 Antibody
Anti-SRP Antibody
Antinuclear Antibody
Abnormal EMG
Biopsy
Treatment
Corticosteroids
Methotrexate
Azathioprine
Treatment For Resistant Disease
Intravenous Immunoglobulin (IVIG)
Cyclophosphamide
Rituximab
Calcineurin Inhibitors
2 mins
Muscular Dystrophy
Mechanism
X-linked Recessive
Signs and Symptoms
Muscle Weakness
Motor Problems
Gower Sign
Large Calves
Waddling Gait
Loss of Ambulation
Consideration
Cardiac and Respiratory Failure
2 mins
Myasthenia Gravis
Mechanism
Antibodies to Acetylcholine Receptor
Symptoms
Ptosis
Diplopia
Weakness with Muscle Use
Respiratory Death
Thymus Associated
Treatment
Acetylcholinesterase Inhibitors
Plasmapheresis
Thymectomy
1 min
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