MSK Pathology Flashcards
Rickets
defective mineralization of cartilage in the growth of platesin CHILDREN…
leads to skeletal deformities
VITAMIN D DEFICIENCY
*calcium deficiency too
*phosphate deficiency
sxs
delayed growth
bone pain or tenderness
skeletal deformities
dental problems
muscle weakness
Osteomalacia
impaired mineralization of bone matrix…. softening of bones
sxs
diffuse bone pain, esp in hips
muscle weakness
difficulty walking
bone tenderness
fractures with minimal trauma
WHY?
vitamin d deficiency
impaired phosphate metabolism
certian medications
chronic kidney disease
Scurvy
impaired collagen synthesis due to vitamin C deficiency;
leads to weakened connective tissues
VITAMIN C DEFICIENCY
think pirate disease
sxs
fatigue
gum disease
poor wound healing
bruising easily
joint and muscle pain
corkscrew hair
Ankylosing Spondylitis
Inflammation of axila skeleten
@SACRO-ILIAC joints
leads to progressive stiffness and fusion of the spine
sxs
chronic back pain and stiffness (esp in morning)
pain impoves with exercise but not rest
peripheral arthritis, uvethtis, and enthesitis
GENETIC LINK: HLA-B27
Bursitis
inflammation of bursa
Small fluid filled sacs that cushion bones, tendons and muscles near joints
sxs
localized pain and tenderness
swelling and warmth over bursa
limited range of motion in affected joint
EX: rheumatoid arthritis and gout
Fibromylagia
central pain processing leading to widespread pain and heightened pain sensitivity
sxs
msk pain
fatigue
sleep disturbances
cognitive difficulties
multiple tender points
Myositis … dermatomyositis, polymyositis
autoimmune inflammation of muscle tissue (polymupsitis) or muscle and skin (dermatomyositis)
sxs
symmetrical proximal muscle weakness
muscle pain and tenderness
skin rash (heliotrope rash, gottron’s papules)
difficulty swallowing and respiratory involvement in severe cases
Gout
deposition of monosodium urate crystals in joints and soft tissues due to hyperuricemia
sxs
severe joint pain (usually in first metatarsophalangeal joint)
swelling, reddness and warmth
tophaceous depoisits in chronic gout
… overproduction or underexcretion of uric acid…
- high purine diet (A and Gs… meats and organ meats)
- alcohol consumption, or medications
Polymyalgia Rheumatica (PMR)
inflammatory disorder causing muscle pain and stiffness, particularly in shoulders and hips
sxs
bilateral shoulder and hip girdle pain and stiffness
morning stiffness (for more than 30 mins)
systemic symptoms like fever, weight less, and fatigue
Reactive Arthritis (Reiters Syndrome)
Inflammatory arthritis triggered by na infection elsewhere in the body
sxs
asymmetric arthritis, involves the lower extremities
conjunctivitis or uveitis
urethritis or cervitits
Enthesitis and dactylitis
… typically follows GI or GU infection like chlamydia, salmonella, shigella
classic reactive arthritis triad
conjunctivitis (cant see)
Urethritis (cant pee)
Arthritis (cant bend the knee)
Tendonitis
inflammation or irritation of a tendon, leads to pain and tenderness near a joint
sxs
pain and tenderness along tendon
BC: overuse or repeititive motion, acute injurt, age related degeneration
Osteopetrosis
defective OSTEOCLAST mediated bone resorption leading to abnormally dense but brittle bones
sxs
bone fractures
cranial nerve compression symptoms (vision or hearing loss)
anemia, thrombocytopenia, and leukopenia because of bone marrow failure
hepatosplenomegaly due to extramedullary hemoatpoiesis
GENETIC: affecting osteoclast function, CLCN7 and TCIRG1
Marfan Syndrome
connective tissue disorder due to mutations in the FBN1 gene or …. affecting fibrillin-1
*Autosomal dominant inheritance
sxs
tall stature, long limbs and fingers
oextus excavatum or pextus carinatum
scoliosis
joint hypermobility
CVS manifestations
ocular problems
Muscular Dystrophy
progeressive muscle degeneration and weakness due to genetic defects in muscle proteins
sxs
progressive muscle weakness and wasting
delayed motor milestones in children
Gower’s sign (hands to push of ground)
psudohypertrophy in calf muscles
cardiomyopathy and respiratroy failure in advanced stages
GENETIC: DUSCHENNE and BECKER muscular dystrophies
Osteogenesis Imperfecta
Defective collagen synthesis leading to brittle bones that fracture easily
sxs
blue sclerae
dental abnormalities
hearing loss
short stature
frequent fractures
GENETIC: COL1A1, COLA1A2… affects type 1 collagen
Osteoarthritis OZ / DJD (Degenrative joint disease)
progressive degeneration of articular cartilage with secondary changes in the subchondral bone and synovium
sxs
join pain worsens with activity, improves with rest
morning stiffness more than 30 mins
joint movement
reduced range of motion
Initial trigger???
- small tears
- previous joint injury
Osteoporosis
decreased bone density and quality, leading to increased fragility and fracture risk
often asymptomatic until a fracture occues
common fractures sites: hip, spine, wrist
height loss and kyphosis (because of vertebral compression fractures)
*calcium and vitamin D component
Hips, spine, wrist
Pagets Disease
Disorganized bone remodeling leading to abnormal bone structure and weakness
**remodeling happens but in a disorganized fashion
sxs
bone pain
bone deformities
enlarged skull
hearing loss
increased warmth over affected bones due to hypervascularity
cardiac failure
WHY: possibly genetic and probably VIRAL
Avascular Necrosis
Death of bone tissue due to interrupted blood supply
sxs
pain in affected joint (hip and shoulder)
pain may worsen with weight bearing activities
limited range of motion
progressive joint stiffness
WHY:
FEMORAL HEAD COLLAPSE
OR blood supply to the snuff box // aka scaphoid
Chondrosarcoma
malignant tumor of cartilage producing cells leading to the formation of cartilage in bones and soft tissues
sxs
painful, progressively enlarging mass
swelling and local tenderness
possible pathological fractures
ETIIOLOGY:
arises from de novo cartilage cells
Ewing sarcoma
highly malignant bone tumor characterized by small round blue cells commonly affecting the diaphysis of long bones and pelvis
GENETIC: EWS-FLI1 fusion gene
- adolescents and young adults
sxs
pain and swelling at tumor site
systemic symptoms: fever, weight loss and fatigue
possible palpable mass
Osteoid Osteoma
benign bone tumor typically less than 2 cm, produces osteoid and woven bone surrounded by a zone of reactive bone formation
sxs
nocturnal pain releived by NSAIDs
localized tenderness and swelling
limp or scoliosis if affecting the spine
Osteosarcoma
highly malignant bone tumor producitng osteoid, most commonly affecting the metaphysis of long bones
***distal femur, proximal tibia
Genetic: RB1, and TP53
metastasizes to bone and lungs
Rhabdomyosarcoma
malignant tumor of skeletal muscle origin, commonly affecting head and neck, genitourinary tract and extremities
sxs
painless mass or welling
orbital, hematuria, vaginal bleeding
fever, weight loss