Musculoskeletal System Flashcards
Pathoma MS Chp 18
Achondroplasia
Pathology:
Symptoms/Signs:
Causes:
Path:
Impaired cartilage proliferation in the growth plates of lone bones (Dwarfism)
Signs:
1) Short extremities & normal head/chest (poor endochondral growth)
Causes:
FGFR3 mutation (overexpression)
Path:
Impaired cartilage proliferation in the growth plates of lone bones (Dwarfism)
Signs:
1) Short extremities & normal head/chest (poor endochondral growth)
Causes:
FGFR3 mutation (overexpression)
Achondroplasia
Osteogenesis imperfecta
Pathology/cause:
Symptoms/Signs:
Path:
Defective bone resorption due to deficient type 1 collage synthesis
Signs:
1) Multiple fractures
2) Blue sclera
3) Hearing loss
Path:
Defective bone resorption due to deficient type 1 collage synthesis
Signs:
1) Multiple fractures
2) Blue sclera
3) Hearing loss
Osteogenesis imperfecta
Osteopetrosis
Pathology:
Symptoms/Signs:
Causes:
Treatments:
Path:
Defective bone resorption causing abnormally thick bones
Signs:
1) Fractures
2) Anemia/Thrombocytopenia/Leukopenia with extramedullary hematopoiesis
3) Vision/Hearing loss
4) Hydrocephalus
5) Renal tubular acidosis
Causes:
Carbonic anhydrase mutation (osteoclast dysfunction)
Treatment:
Bone transplant
Path:
Defective bone resorption causing abnormally thick bones
Signs:
1) Fractures
2) Anemia/Thrombocytopenia/Leukopenia with extramedullary hematopoiesis
3) Vision/Hearing loss
4) Hydrocephalus
5) Renal tubular acidosis
Causes:
Carbonic anhydrase mutation (osteoclast dysfunction)
Treatment:
Bone transplant
Osteopetrosis
Rickets
Pathology:
Symptoms/Signs:
Cause:
Path:
Abnormal bone mineralization in children (<1yrs)
Signs:
1) Pigeon chest
2) Frontal bossing (enlarged forehead)
3) Rachitic rosary
4) Bowed legs
Cause:
Vit D deficiency in kids
Path:
Abnormal bone mineralization in children (<1yrs)
Signs:
1) Pigeon chest
2) Frontal bossing (enlarged forehead)
3) Rachitic rosary
4) Bowed legs
Cause:
Vit D deficiency in kids
Rickets
Osteomalacia
Pathology:
Symptoms/Signs:
Cause:
Labs:
Path:
Inadequate bone mineralization in adults
Signs:
1) Fractures
Cause:
Vit D deficiency in adults
Labs:
Low serum Ca2+ & PO4-
High PTH & Alkaline phosphatase
Path:
Inadequate bone mineralization in adults
Signs:
1) Fractures
Cause:
Vit D deficiency in adults
Labs:
Low serum Ca2+ & PO4-
High PTH & Alkaline phosphatase
Osteomalacia
OsteoPOROSIS
Pathology:
Symptoms/Signs:
Cause:
Labs:
Treatment:
Avoid ________
Path:
Trabecular bone loss (porous bones)
Signs:
1) Bone pain & fractures in weight bearing areas (spine/hips etc)
2) Shortened height & Kyphosis
Causes:
1) Genetics (vit D receptor variants)
2) Diet (vit D deficiency)
3) Sedentary
Labs:
Low bone density (DEXA scan)
Normal serum Ca2+, PO4-, & Alkaline phosphatase
Treatment:
Exercise
Vit D & Ca2+ sup
Bisphosphates
Estrogen replacement
AVOID Glucocorticoids
Path:
Trabecular bone loss (porous bones)
Signs:
1) Bone pain & fractures in weight bearing areas (spine/hips etc)
2) Shortened height & Kyphosis
Causes:
1) Genetics (vit D receptor variants)
2) Diet (vit D deficiency)
3) Sedentary
Labs:
Low bone density (DEXA scan)
Normal serum Ca2+, PO4-, & Alkaline phosphatase
Treatment:
Exercise
Vit D & Ca2+ sup
Bisphosphates
Estrogen replacement
AVOID Glucocorticoids
Osteoporosis
Paget’s disease of the bone
Pathology:
Symptoms/Signs:
Treatments:
Complications:
Path:
Osteoclast & osteoblast imbalance localized to one or more bones occurring in stages:
1) Osteoclastic
2) Mixed
3) Osteoblastic
Results in thick/sclerotic bones that fracture easily
Signs:
1) Bone pain
2) Bigger hat size
3) Hearing loss
4) Lion-facies
Treatments:
1) Calcitonin (inhibit osteoclasts)
2) Bisphosphates (osteoclast apoptosis)
Complication:
1) High-out out cardiac failure (AV shunts in bone)
2) Osteosarcoma
Path:
Osteoclast & osteoblast imbalance localized to one or more bones occurring in stages:
1) Osteoclastic
2) Mixed
3) Osteoblastic
Results in thick/sclerotic bones that fracture easily
Signs:
1) Bone pain
2) Bigger hat size
3) Hearing loss
4) Lion-facies
Treatments:
1) Calcitonin (inhibit osteoclasts)
2) Bisphosphates (osteoclast apoptosis)
Complication:
1) High-out out cardiac failure (AV shunts in bone)
2) Osteosarcoma
Paget’s disease of the bone
Osteomyelitis
Pathology:
Symptoms/Signs:
Cause:
Diagnostic tests:
Path:
Systemic bone marrow infection with hematogenous spread
Signs:
1) Bone pain & Fever/Leukocytosis
2) Sequestration/Lytic focus (abscess)
3) Involucrum/Sclerosis
Causes:
1) S. aureus (main)
2) N. gonorrhea (sexually +ve adults)
3) Salmonella (sickle-cell)
4) Pseudomonas (diabetes/IV drug abuse)
5) Pasteurella (cat/dog scratches)
6) M. tuberculosis (Pott disease)
Tests:
Blood cultures
Path:
Systemic bone marrow infection with hematogenous spread
Signs:
1) Bone pain & Fever/Leukocytosis
2) Sequestration/Lytic focus (abscess)
3) Involucrum/Sclerosis
Causes:
1) S. aureus (main)
2) N. gonorrhea (sexually +ve adults)
3) Salmonella (sickle-cell)
4) Pseudomonas (diabetes/IV drug abuse)
5) Pasteurella (cat/dog scratches)
6) M. tuberculosis (Pott disease)
Tests:
Blood cultures
Osteomyelitis
“SMelly Socks Need ProPer washing”
Avascular/Aseptic necrosis
Pathology:
Cause:
Complications:
Path:
Ischemic necrosis of bone & marrow
Causes:
1) Trauma/Fracture (main)
2) Steroids
3) Sickle cell
4) Caissons disease
Complications
Osteoarthritis & fractures
Path:
Ischemic necrosis of bone & marrow
Causes:
1) Trauma/Fracture (main)
2) Steroids
3) Sickle cell
4) Caissons disease
Complications
Osteoarthritis & fractures
Avascular/Aseptic necrosis
Osteoma
Pathology:
Associated condition:
Path:
Benign facial bone tumor
Ass:
Gardeners syndrome
Path:
Benign facial bone tumor
Ass:
Gardeners syndrome
Osteoma
Osteoid Osteoma
Pathology:
Symptoms/Signs:
Diagnostic tests:
Path:
Benign osteoblast tumor of the cortex of long bones in young adults (men)
Signs:
1) Bone pain (relieved by aspirin)
Tests:
Boney mass <2cm with a radiolucent core (osteoid)
Path:
Benign osteoblast tumor of the cortex of long bones in young adults (men)
Signs:
1) Bone pain (relieved by aspirin)
Tests:
Boney mass <2cm with a radiolucent core (osteoid)
Osteoid Osteoma
Osteochondroma
Pathology:
Histological findings:
Complications:
Path:
Bone tumor with a cartilage cap that arises in the metaphysis
Histo:
Bone is continuous with marrow space
Complication:
Cartilage cap rarely transforms into a chondrosarcoma
Path:
Bone tumor with a cartilage cap that arises in the metaphysis
Histo:
Bone is continuous with marrow space
Complication:
Cartilage cap rarely transforms into a chondrosarcoma
Osteochondroma
Osteosarcoma
Pathology:
Symptoms/Signs:
Cause/Risk:
Tests/Histology:
Path:
Malignant Osteoblastic tumor in teens that arises in long bone metaphysis (distal femur or proximal tibia)
Signs:
1) Fractures
2) Bone pain & swelling
Cause/risk:
Familial retinoblastoma or Paget’s disease
Histo/tests:
1) Destructive mass with a sunburst app & lifted periosteum
2) Pleomorphic cells (make osteoid)
Path:
Malignant Osteoblastic tumor in teens that arises in long bone metaphysis (distal femur or proximal tibia)
Signs:
1) Fractures
2) Bone pain & swelling
Cause/risk:
Familial retinoblastoma or Paget’s disease
Histo/tests:
1) Destructive mass with a sunburst app & lifted periosteum
2) Pleomorphic cells (make osteoid)
Osteosarcoma
Giant cell tumor
Pathology:
Diagnostic tests/Histology:
Complication:
Path:
A locally aggressive multinucleated GC & Stromal tumor in the epiphyses of long bones (dist. femur & prox. tibia) in young adults
Test/Histo:
Soap bubble X-ray
Complication:
Reoccurrence
Path:
A locally aggressive multinucleated GC & Stromal tumor in the epiphyses of long bones (dist. femur & prox. tibia) in young adults
Test/Histo:
Soap bubble X-ray
Complication:
Reoccurrence
Giant cell tumor
Ewing sarcoma
Pathology:
Diagnostic tests:
Complication:
Path:
Malignant poorly differentiated neuroectoderm tumor in the diaphysis of long bones in male children under 15yrs
Tests:
1) Onion skin X-ray
2) Round blue cells
3) 11;22 Translocation
Complication:
Metastasis
Path:
Malignant poorly differentiated neuroectoderm tumor in the diaphysis of long bones in male children under 15yrs
Tests:
1) Onion skin X-ray
2) Round blue cells
3) 11;22 Translocation
Complication:
Metastasis
Ewing sarcoma
Chondroma
Pathology:
Path:
Benign cartilage tumor in medulla of small bones of the hands/feet
Path:
Benign cartilage tumor in medulla of small bones of the hands/feet
Chondroma
Chondrosarcoma
Pathology:
Path:
Malignant cartilage tumor in the medulla of the pelvis & central skeleton
Path:
Malignant cartilage tumor in the medulla of the pelvis & central skeleton
Chondrosarcoma
Metastatic bone tumor
Pathology:
Path:
Osteolytic (punched-out) lesions usually from colon cancer metastasis
Path:
Osteolytic (punched-out) lesions usually from colon cancer metastasis
Metastatic bone tumor
Osteoarthritis
Pathology:
Causes:
Symptoms/Signs:
Path:
Progressive degeneration of articular cartilage in a limited number of joints (oligoarticular)
Cause:
1) Wear & Tear (age, obesity, & trauma)
Signs:
1) Joint stiffness that worsens throughout the day
2) Disrupted cartilage lining the articular surface & joint mice (floating cartilage)
3) Eburnation of subchondral bone
4) Osteophytes (reactive bony growths in the DIP (Heberden nodes) & PIP (Bouchard nodes)
Path:
Progressive degeneration of articular cartilage in a limited number of joints (oligoarticular)
Cause:
1) Wear & Tear (age, obesity, & trauma)
Signs:
1) Joint stiffness that worsens throughout the day
2) Disrupted cartilage lining the articular surface & joint mice (floating cartilage)
3) Eburnation of subchondral bone
4) Osteophytes (reactive bony growths in the DIP (Heberden nodes) & PIP (Bouchard nodes)
Osteoarthritis
Rheumatoid arthritis
Pathology:
Symptoms/Signs:
Cause:
Labs/Histological findings:
Complications:
Path:
Autoimmune destruction of cartilage (entire skeleton EXCEPT DIP)
Cause:
HLA-DR4 gene (middle-aged women)
Labs/Histo:
1) IgM vs Fc part of IgG
2) Neutrophils & high protein in synovial fluid
3) Pannus (synovitis causing inflamed granulation tissue)
4) Narrowed joint spaces & fusion
5) Osteopenia
Complications:
Anemia of chronic disease & secondary amyloidosis
Path:
Autoimmune destruction of cartilage (entire skeleton EXCEPT DIP)
Cause:
HLA-DR4 gene (middle-aged women)
Labs/Histo:
1) IgM vs Fc part of IgG
2) Neutrophils & high protein in synovial fluid
3) Pannus (synovitis causing inflamed granulation tissue)
4) Narrowed joint spaces & fusion
5) Osteopenia
Complications:
Anemia of chronic disease & secondary amyloidosis
Rheumatoid arthritis
Ankylosing spondylarthritis
Pathology:
Symptoms/Signs:
Causes:
Complication:
Path:
Arthritis-like involvement of the sacroiliac joints & spine in young men
Signs:
1) Lower back pain
2) Bamboo spine (vertebra fusion)
3) Uveitis
3) Aortitis
Causes:
Lacking a rheumatoid factor
HLA-B27 association
Complication:
Aortic regurgitation
Path:
Arthritis-like involvement of the sacroiliac joints & spine in young men
Signs:
1) Lower back pain
2) Bamboo spine (vertebra fusion)
3) Uveitis
3) Aortitis
Causes:
Lacking a rheumatoid factor
HLA-B27 association
Complication:
Aortic regurgitation
Ankylosing spondylarthritis
Reiter syndrome
Pathology:
Symptoms/Signs:
Cause:
Path:
Arthritic-like signs weeks following a Gi or Chlamydia trachomatis infection in young men
Sigs:
1) Arthritis
2) Urethritis
3) Conjunctivitis
Causes:
Lacking a rheumatoid factor
HLA-B27 association
Path:
Arthritic-like signs weeks following a Gi or Chlamydia trachomatis infection in young men
Sigs:
1) Arthritis
2) Urethritis
3) Conjunctivitis
Causes:
Lacking a rheumatoid factor
HLA-B27 association
Reiter syndrome
Psoriatic arthritis
Pathology:
Symptoms/Signs:
Cause:
Path:
Arthritic-signs in 10% of psoriasis cases
Signs:
1) Sausage-like fingers/toes
Causes:
Lacking a rheumatoid factor
HLA-B27 association
Path:
Arthritic-signs in 10% of psoriasis cases
Signs:
1) Sausage-like fingers/toes
Causes:
Lacking a rheumatoid factor
HLA-B27 association
Psoriatic arthritis
Infectious arthritis
Pathology:
Symptoms/Signs:
Causes:
Path:
Infection of a joint (knee)
Signs:
1) Warmth/redness
2) Limited ROM
3) Fever/High WBC & ESR
Causes:
1) N. gonorrhea (young adults #1)
2) S. aureus (older children & adults #2)
Path:
Infection of a joint (knee)
Signs:
1) Warmth/redness
2) Limited ROM
3) Fever/High WBC & ESR
Causes:
1) N. gonorrhea (young adults #1)
2) S. aureus (older children & adults #2)
Infectious arthritis
Pseudogout
Pathology:
Symptoms/Signs:
Labs/Histological findings:
Path:
Deposition of CPPD (Ca2+ pyrophosphate dihydrate) into joints/tissues
Signs:
1) Gout
Labs/Histo:
Rhomboid-crystals with weakly +ve birefringent under polarized light
Path:
Deposition of CPPD (Ca2+ pyrophosphate dihydrate) into joints/tissues
Signs:
1) Gout
Labs/Histo:
Rhomboid-crystals with weakly +ve birefringent under polarized light
Pseudogout
Chronic gout
Pathology:
Symptoms/Signs:
Labs/Histological findings:
Path:
Long-term deposition of monosodium urate crystals in joints/tissues
Signs:
1) Renal failure (urate nephropathy)
2) signs of gout
Labs/Histo:
1) Hyperuricemia
2) Needle-crystal with -ve birefringent under polarized light
3) Tophi (chalky-white uric acid crystals)
Path:
Long-term deposition of monosodium urate crystals in joints/tissues
Signs:
1) Renal failure (urate nephropathy)
2) signs of gout
Labs/Histo:
1) Hyperuricemia
2) Needle-crystal with -ve birefringent under polarized light
3) Tophi (chalky-white uric acid crystals)
Chronic gout
Primary gout
Pathology:
Labs:
Path:
Deposition of monophosphate urate crystals in joints/tissues due to ideological hyperuricemia
Labs:
Hyperuricemia & needle-crystals with -ve birefringent under polarized light
Path:
Deposition of monophosphate urate crystals in joints/tissues due to ideological hyperuricemia
Labs:
Hyperuricemia & needle-crystals with -ve birefringent under polarized light
Primary gout
Secondary Gout
Pathology:
Symptoms/Signs:
Causes:
Labs/Histological findings:
Path:
Deposition of monosodium urate crystals in the joints/tissues due to another condition
Signs:
1) SUPER painful big toe (podagra)
(avoid alcohol & meat!)
Causes:
1) Leukemia & myeloproliferative disorder (increase cell turnover)
2) Lesch-Nyhan syndrome (def HGPRT resulting hyperuricemia, self-mutilation, & retardation
3) Renal insufficiency
Labs/Histo:
1) Needle-shaped crystals with -ve birefringent under polarized light
2) Hyperuricemia
Path:
Deposition of monosodium urate crystals in the joints/tissues due to another condition
Signs:
1) SUPER painful big toe (podagra)
(avoid alcohol & meat!)
Causes:
1) Leukemia & myeloproliferative disorder (increase cell turnover)
2) Lesch-Nyhan syndrome (def HGPRT resulting hyperuricemia, self-mutilation, & retardation
3) Renal insufficiency
Labs/Histo:
1) Needle-shaped crystals with -ve birefringent under polarized light
2) Hyperuricemia
Secondary Gout
Dermatomyositis
Pathology:
Symptoms/Signs:
Cause:
Lab/Histological findings:
Treatment:
Path:
Inflammation of the skin & muscles
Signs:
1) Bilateral proximal muscle weakness
2) Heliotrope rash (upper lids)
3) Grotton lesions (red papules on elbows/knuckles/knees)
Cause:
Ass with gastric carcinoma
Labs/Histo:
1) High CK
2) +ve ANA cells
3) +ve Anti-Jo-1 Antibodies
4) Perimysial inflammation (CD4+T)
5) Perivascular trophy (CD8+T)
Corticosteroids
Path:
Inflammation of the skin & muscles
Signs:
1) Bilateral proximal muscle weakness
2) Heliotrope rash (upper lids)
3) Grotton lesions (red papules on elbows/knuckles/knees)
Cause:
Ass with gastric carcinoma
Labs/Histo:
1) High CK
2) +ve ANA cells
3) +ve Anti-Jo-1 Antibodies
4) Perimysial inflammation (CD4+T)
5) Perivascular trophy (CD8+T)
Corticosteroids
Dermatomyositis
Polymyositis
Pathology:
Lab/Histological findings:
Path:
Inflammation of skeletal muscles (ONLY)
Labs/Histo:
1) Endomysial inflammation (CD8+T) with necrotic muscle fibers
Path:
Inflammation of skeletal muscles (ONLY)
Labs/Histo:
1) Endomysial inflammation (CD8+T) with necrotic muscle fibers
Polymyositis
X-linked muscular dystrophy
Pathology:
Cause:
Path:
Muscle wasting & replacement with fat
Cause:
Mutated dystrophin
Path:
Muscle wasting & replacement with fat
Cause:
Mutated dystrophin
X-linked muscular dystrophy
Duchenne muscular dystrophy
Pathology:
Symptoms/Signs:
Cause:
Path:
Proximal muscle weakness in 1 yr olds
Signs:
1) Calf pseudohypertrophy
2) Cardiorespiratory failure (Death)
Cause:
Deleted dystrophin
Path:
Proximal muscle weakness in 1 yr olds
Signs:
1) Calf pseudohypertrophy
2) Cardiorespiratory failure (Death)
Cause:
Deleted dystrophin
Duchenne muscular dystrophy
Becker muscular dystrophy
Pathology/Cause:
Path/Cause:
A milder condition due to mutated dystrophin
Path/Cause:
A milder condition due to mutated dystrophin
Becker muscular dystrophy
Myasthenia gravis
Pathology:
Symptoms/Signs:
Associated condition:
Treatments:
Path:
Autoantibodies vs post synaptic Ach receptors in the NMJ
Signs:
1) Muscle weakness (worse with use)
2) Ptosis & Diplopia
Ass:
Thymic hyperplasia or thymoma
Treatments:
AchE agents or Thymectomy
Path:
Autoantibodies vs post synaptic Ach receptors in the NMJ
Signs:
1) Muscle weakness (worse with use)
2) Ptosis & Diplopia
Ass:
Thymic hyperplasia or thymoma
Treatments:
AchE agents or Thymectomy
Myasthenia gravis
Lambert-Eaton syndrome
Pathology:
Symptoms/Signs:
Cause:
Treatment
Path:
Autoantibodies vs presynaptic Ca2+ channels in the NMJ (inhibiting Ach release)
Signs:
1) Proximal muscle weakness (better with use)
Cause:
SCLC
Treatment:
Resecting the cancer (AchE doesn’t help)
Path:
Autoantibodies vs presynaptic Ca2+ channels in the NMJ (inhibiting Ach release)
Signs:
1) Proximal muscle weakness (better with use)
Cause:
SCLC
Treatment:
Resecting the cancer (AchE doesn’t help)
Lambert-Eaton syndrome
Lipoma
Pathology:
Path:
Benign fat tumor in adults
Liposarcoma
Pathology/Histology:
Path/Histo:
Malignant fat tumor inn adults with lipoblast cells
Path/Histo:
Malignant fat tumor inn adults with lipoblast cells
Liposarcoma
Rhabdomyoma
Pathology:
Labs/Histological findings:
Path:
Malignant skeletal muscle tumor in children
Labs/Histo:
1) Tumor in the head, neck, or vagina
2) Rhabdomyoblast cells that are desmin +ve
Path:
Malignant skeletal muscle tumor in children
Labs/Histo:
1) Tumor in the head, neck, or vagina
2) Rhabdomyoblast cells that are desmin +ve
Rhabdomyoma
