Pathology The Bones, Joints, Soft Tissues
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- What is osteogenesis imperfecta
- A group of heritable diseases characterized by abnormal type I collagen
- How many types of osteogenesis imperfecta are there
- 4 (types I to IV)
- What is the usual clinical presentation of osteogenesis imperfecta
- Multiple fractures, often with minimal trauma
- Besides bone, what else is affected in osteogenesis imperfecta
- Teeth, skin, eyes
- What are the characteristic eye findings in osteogenesis imperfecta
- Blue sclerae
- What are the radiographic findings in osteogenesis imperfecta
- Thin and osteopenic bones, often with many foci of fracture callus
- What is osteopetrosis
- An inherited disorder characterized by abnormally dense bone
- What causes osteopetrosis
- Failure of osteoclastic cells by an unknown mechanism
- What are 2 other names for osteopetrosis
-
Marble bone disease
Alber-Schonberg disease - Why the name “marble bone†disease for osteopetrosis
- Bones look short and block-like, and are radiodense, like marble
- What is the common clinical presentation of osteopetrosis
- Multiple fractures
- Why are multiple fractures common in osteopetrosis
- Although bone is hyperdense, it is intrinsically disorganized. Consequently, it is weaker
- What are 2 common conditions associated with osteopetrosis
-
Anemia due to decreased marrow space
Blindness, deafness, and other cranial nerve involvement due to narrowing of neural foramina - What are the 2 genetic variants of osteopetrosis
- AR and AD
- What variant of osteopetrosis is most severe
- The AR variant is fatal in infancy
- What is osteoporosis
- A decrease in bone mass
- What causes osteoporosis
- Impaired synthesis or increased resorption of bone matrix
- Name 5 states with which osteoporosis is associated
-
Postmenopause
Physical inactivity
Hypercorticism
Hyperthyroidism
Calcium deficiency - Describe the pathophysiology associated with osteoporosis of the elderly
- A continuous loss of bone occurs at the trabecular and cortical layers due to increased resorption
- What commonly prescribed drug induces osteopenia
- Steroids
- What commonly results from osteopenia
- Fractures
- What are the calcium and phosphorus levels in the blood in patients with osteoporosis
- Normal
- What is seen radiographically in patients with osteoporosis
- Diffuse radiolucency of bone
- What is the treatment for osteoporosis
- No cure. Calcium supplements, exercise, and estrogen therapy (in some patients) help reduce the risk, however
- What is the effect of PTH on bone
- It stimulates the active phase of bone remodeling
- What are the two main causes of hyperparathyroidism
- Parathyroid hyperplasia and parathyroid adenoma
- What are the two clinical features of hyperparathyroidism
- Bone pain and hypercalcemia
- What are the significant laboratory values in hyperparathyroidism
- Calcium >11.5 mg/dl; Phosphorus <2.0 mg/dl
- What is seen on bone histologic examination in hyperparathyroidism
- An increased number of osteoclasts
- After bone is resorbed, what replaces it
- Fibrous tissue
- What abnormality is often seen in the fibrous tissue of resorbed bone
- Hemosiderin pigment
- What are the fibrous tissue lesions seen in resorbed bone called
- Brown tumors
- How is hyperparathyroidism treated
- By removal of the parathyroid lesion
- How does hypoparathyroidism affect bone
- It decreases the turnover rate
- What is the most common reason for hypoparathyroidism
- Surgical removal of parathyroid glands
- What are the clinical signs of hypoparathyroidism
- Signs of hypocalcemia, including soft tissue ossification and calcification, abnormal dentition, and otoscleorosis
- What is seen on bone histologic examination in hypothyroidism
- Active osteoblasts and lack of osteoclasts
- What is the treatment for hypoparathyroidism
- Administration of PTH or vitamin D
- What is osteomalacia
- A bone abnormality caused by defective calcification of osteoid matrix
- What causes osteomalacia
- Vitamin D deficiency
- In what age group does osteomalacia typically occur
- Adults
- What can osteomalacia mimic radiographically
- Osteoporosis
- How is osteomalacia diagnosed
- By bone biopsy
- What is the treatment for osteomalacia
- Correct vitamin D deficiency
- What is osteomalacia called when secondary to renal disease
- Renal osteodystrophy
- Define rickets
- Bone abnormality caused by defective calcification of osteoid matrix and increased thickness of epiphysial growth plates
- What causes rickets
- Vitamin D deficiency
- Describe the difference between rickets and osteomalacia
- Osteomalacia occurs in adults, rickets in children. Because bone growth is not complete in patients with rickets, skeletal deformities are common
- What are six clinical manifestations of rickets
-
Craniotabes—thickening and softening of occipital and parietal bones
Late closing of fontanelles
Rachitic rosary—costochondral swelling
Harrison groove—depression of insertion site of diaphragm into rib cage
Pigeon breast—protrusion of sternum
Short stature caused by spinal deformity - What is the treatment for rickets
- Correction of vitamin D deficiency
- Define scurvy
- Bone abnormality characterized by impaired osteoid matrix formation
- What causes scurvy
- Vitamin C deficiency
- How does vitamin C deficiency lead to impaired bone formation
- Failure of praline and lysine hydroxylation required for collagen synthesis
- Name three clinical characteristics of scurvy
-
Subperiosteal hemorrhage
Osteoporosis
Epiphysial cartilage not replaced by osteoid - Why does subperiosteal hemorrhage occur with scurvy
- Because of increased capillary fragility
- What is seen on bone histologic examination in scurvy
- Decreased trabecular bone mass and abnormal osteoblasts
- What is the treatment for scurvy
- Correction of vitamin C deficiency
- What is pyogenic osteomyelitis
- Infection of the medullary and cortical portions of the bone, including the periosteum
- What bones are commonly affected by pyogenic osteomyelitis in children
- Long bones
- What bones are commonly affected by pyogenic osteomyelitis in adults
- Vertebrae
- What is the usual causative organism of pyogenic osteomyelitis in children
- Staph aureus
- What are the usual causative organisms (2) of pyogenic osteomyelitis in newborns
-
Group B β-hemolytic strep
E coli - What is the usual causative organism of pyogenic osteomyelitis in sickle cell anemia patients
- Salmonella organisms
- What is the usual causative organism of pyogenic osteomyelitis in IV drug abusers
- Pseudomonas organisms
- How do the causative bacteria of pyogenic osteomyelitis spread in the body
- Hematogenously
- In adults, what is the usual cause of pyogenic osteomyelitis
- Complications from surgery and compound fractures
- What portion of the bone is most commonly involved initially in pyogenic osteomyelitis
- Metaphysis
- Name 3 reasons for persistent pyogenic osteomyelitis
-
Necrotic bone acting as a locus for persistent infection
Pyogenic exudate compressing vascular supply of bone
Inflammation in relatively avascular areas of bone - Name 2 clinical symptoms of pyogenic osteomyelitis
- Fever, local bone pain
- What are significant laboratory test values in pyogenic osteomyelitis
- Marked leukocytosis, fever, and increased sedimentation rate
- What is a localized bone infection surrounded by granulation tissue called
- Brodie abscess
- How is a Brodie abscess treated
-
Drain or debride the abscess
Administer antibiotics - How frequently do flare-ups occur with chronic osteomyelitis
- It varies, with intervals of months to years
- What is tuberculous osteomyelitis
- Bone infection due to spread of tuberculous organisms
- How are tuberculous organisms spread
- Hematogenously
- What is tuberculous osteomyelitis with spinal involvement called
- Pott disease
- What bones does tuberculous osteomyelitis affect
-
Spine
Hip
Long bones
Bones of the hands and feet - What happens to bone affected by tuberculous osteomyelitis
- Progressive destruction, with little ossification
- What is histiocytosis X
- A group of disorders affecting other organs systems in addition to bone. It is characterized by proliferation of histiocyte cells
- Histiocyte cells are similar to what epidermal cells
- Langerhans cells
- What are characteristic markers of histiocytic cells
- Birbeck granules
- What do Birbeck granules look like
- Tennis rackets
- Name 3 variants of histiocytosis X
-
Eosinophilic granuloma
Hand-Schuller-Christian disease
Letterer-Siwe disease - What is characteristic of eosinophilic granuloma
- Histiocytic proliferation with inflammatory cells, including many eosinophils
- What is the clinical presentation of eosinophilic granuloma
- Solitary bone lesion
- Does extraskeletal involvement occur in eosinophilic granuloma
- Yes, commonly in the lung
- What is the prognosis in eosinophilic granuloma
- Best of all variants of histiocytosis X. Lesions sometimes heal without treatment
- What is characteristic of Hand-Schuller-Christian disease
- Histiocyte proliferation with inflammatory cells
- What is affected in Hand-Schuller-Christian disease
-
Bone
Liver
Spleen
Other tissues - What population is affected by Hand-Schuller-Christian disease
- Children less than 5 years old
- List the classic triad of Hand-Schuller-Christian disease
-
Skull lesions
Diabetes insipidus
Exophthalamos - What is the prognosis in Hand-Schuller-Christian disease
- Better than Letterer-Siwe, worse than eosinophilic granuloma
- What is characteristic of Letterer-Siwe disease
- Widespread histiocyte proliferation
- What population is affected by Letterer-Siwe disease
- Infants
- What are 5 clinical findings in Letterer-Siwe disease
-
Hepatosplenomegaly
Lymphadenopathy
Pancytopenia
Pulmonary involvement
Recurrent infections - What is the course of Letterer-Siwe disease
- Aggressive and fatal
- What is another name for unicameral bone cyst
- Solitary bone cyst
- What is the cause of unicameral bone cyst
- Unknown
- What population is affected by unicameral bone cysts
- Young males
- What portion of bone is affected by unicameral bone cysts
- Distal ends of long bones
- Name 3 clinical signs of unicameral bone cysts
-
Pain
Soft tissue swelling
Occasional fractures - What is seen on radiography of unicameral bone cysts
- Radiolucent area with smooth, thin cortex
- What is the appearance of unicameral bone cysts on gross pathology
- Multiloculated cavity
- What is the treatment for unicameral bone cysts
- Curettage with insertion of bone chips
- What is the prognosis with unicameral bone cysts
- Excellent, with few recurrences
- What population is affected by aneurysmal bone cysts
- Females in 2nd to 3rd decade of life
- What portion of bone is usually affected with aneurysmal bone cysts
-
Metaphysis of long bones
Vertebrae - Name the 2 clinical signs of aneurysmal bone cysts
-
Pain
Soft tissue swelling - What is seen on radiography of aneurysmal bone cysts
- Circumscribed zone of rarefaction, with extension into soft tissues
- What is the size range of aneurysmal bone cysts
- Up to 20 cm
- What is the gross pathology of aneurysmal bone cysts
- Bone is greatly distorted with irregular outlines. It appears spongy, with cystic spaces of various sizes
- Give 2 histologic differential diagnoses of aneurysmal bone cysts
-
Giant cell tumor of bone
Telangiectatic osteosarcoma - How are aneurysmal bone cysts treated
- Removal of entire lesion with insertion of bone chips
- What is the prognosis with aneurysmal bone cysts
- Recurrences occur 20% to 30% of the time
- Fibrous dysplasia most commonly affects what bones
- Ribs, femur, tibia, maxilla
- Is fibrous dysplasia monostotic or polyostotic
- 80% monostotic; 20% polyostotic
- Polyostotic lesions are part of what syndrome
- Albright syndrome
- What bone complications occur in fibrous dysplasia
- Deformity secondary to repeated fractures
- Describe the radiographic appearance of fibrous bone dysplasia
- Well-defined zones of rarefaction surrounded by narrow rims of sclerotic bone
- Describe the major histologic feature of fibrous dysplasia
- Proliferation of fibroblasts, which produce a dense collagenous matrix
- What is the treatment for monostotic bone lesions
- Curettage or local resection
- What is the treatment for polyostotic bone lesions
- Conservation (nonsurgical), because lesions stop growing after puberty
- What is another name for osteochondroma
- Exostosis
- Define osteochondroma
- Bony growth covered by a cartilaginous cap
- What is osteochondroma’s claim to fame
- Most common benign tumor of bone
- Where does osteochondroma originate
- In the metaphysis
- What are the 2 most frequent locations for osteochondroma
-
Distal femur
Proximal tibia - What population is most commonly affected by osteochondroma
- Males under 25 years of age
- Does osteochondroma undergo transformation to a malignant tumor
- Rarely
- Describe the clinical symptoms of osteochondroma
- Pain and compression of adjacent structures
- What is the prognosis of osteochondroma
- Excellent. Resection is usually curative
- What is giant cell tumor
- Benign tumor characterized by multinucleated giant cells and fibrous stroma
- Where does giant cell tumor originate
- Epiphysis of long bones
- What are the 2 most frequent locations of giant cell tumor
-
Distal femur
Proximal tibia - How does giant cell tumor appear radiographically
- Soap bubble appearance
- What population is most commonly affected by giant cell tumor
- Females 20 to 40 years old
- What is the course of giant cell tumor
- Although benign, it is locally aggressive
- What is the prognosis of giant cell tumor
- Frequently recurs after local curettage
- What is enchondroma
- Benign intramedullary cartilaginous neoplasm
- Where does enchondroma most frequently occur
- Hands and feet
- What population is most commonly affected by enchondroma
- All age groups
- What is osteoma
- Benign tumor of mature bone
- What are the 2 most frequent locations of an osteoma
-
Skull
Facial bones - What population is most commonly affected by osteoma
- Males of any age
- Osteoma occurring as multiple lesions, with intestinal polyps and soft tissue tumors, is known by what name
- Gardner syndrome
- What are the clinical features of osteoma
- It is asymptomatic, unless drainage of paranasal sinus is blocked
- What is the prognosis of osteoma
- Excellent. Resection is curative
- What is osteoid osteoma
- Neoplastic proliferation of osteoid and fibrous tissue
- What are the most frequent locations of osteoid osteoma
- Ends of diaphysis of femur or tibia
- What population is most commonly affected by osteoid osteoma
- Males less than 25 year old
- What are the clinical features of osteoid osteoma
- Increasing pain, worse at night, relieved by aspirin
- How does osteoid osteoma appear radiographically
- Central radiolucent area surrounded by sclerotic bone
- What is the central radiolucent area in an osteoid osteoma called
- Nidus
- What is the nidus of osteoid osteoma, microscopically
- Osteoblasts, calcification, and multinucleate giant cells
- What is the prognosis for osteoid osteoma
- Excellent. Resection of nidus and sclerotic bone is curative
- Name the 2 most frequent locations of osteoblastoma
- Vertebrae and long bones
- What population is most commonly affected by osteoblastoma
- Males under 30
- What are the clinical features of osteoblastoma
- Usually none
- Radiographically, how does osteoblastoma appear
- Well-circumscribed lesion surrounded by sclerotic bone
- What treatment for osteoblastoma allows the best prognosis
- Results are excellent when the lesion is removed by curettage
- Give another name for osteosarcoma
- Osteogenic sarcoma
- State osteosarcoma’s claim to fame
- Osteosarcoma is the most common primary malignant tumor of bone
- Define osteosarcoma
- Malignant osteoid and bone-producing neoplasm
- What causes osteosarcoma
- The cause is unknown
- Name the 2 most frequent locations of osteosarcoma
- Distal femur and proximal tibia
- What population is most commonly affected by osteosarcoma
- Males 10-20 years old
- What are the clinical features of osteosarcoma
- Pain, swelling, and pathologic fractures
- What are the significant laboratory values of osteosarcoma
- A 2-3 fold increase in alkaline phosphatase levels
- Radiographically, elevation of periosteum is called what
- Codman triangle
- How does osteosarcoma spread
- Hematogenously
- Name the 4 factors predisposing to osteosarcoma
-
Paget disease
Ionizing radiation
Bone infarcts
Familial retinoblastoma - How does osteosarcoma appear on gross pathology
- Large necrotic and hemorrhagic mass
- What is the microscopic appearance of osteosarcoma
- Malignant stroma containing osteoid and bone
- How is osteosarcoma treated
- Surgical amputation of affected limb, and adjunctive chemotherapy
- What is the prognosis for osteosarcoma
- Poor; 5 year survival rate is 5% to 20%
- What is chondrosarcoma
- Malignant cartilaginous neoplasm
- Name the 4 most frequent locations of chondrosarcoma
- Proximal femur, proximal humerus, pelvis, spine
- What population is most commonly affected by chondrosarcoma
- Males 30-60 years old
- Name three clinical features of chondrosarcoma
- Pain, swelling, and presence of mass for several years
- Radiographically, how does chondrosarcoma appear
- Cortical destruction with occasional medullary involvement
- From what two preexisting cartilaginous tumors can chondrosarcoma arise
-
Multiple familial osteochondromatosis
Multiple enchondromatosis - How does chondrosarcoma appear on gross pathology
- Lobulated white or gray mass, with mucoid material and calcification
- What is chondrosarcoma’s microscopic appearance
- Poorly developed cartilage cells with anaplastic cells
- What is the treatment for chondrosarcoma
- Total resection, if possible
- What is the prognosis for chondrosarcoma
- Chondrosarcoma is slow growing, but has a high tendency to recur; 10 year survival rate is 50-60%
- What is Ewing sarcoma
- Undifferentiated round cell malignant tumor
- In what 4 areas does Ewing sarcoma occur most often
- Long bones, pelvis, scapula, ribs
- What population is most commonly affected with Ewing sarcoma
- Males less than 15 years
- What are the clinical features of Ewing sarcoma
- Pain, swelling, and presence of mass for several years
- How does Ewing sarcoma appear radiographically
- Destructive appearance
- What does subperiosteal reactive new bone resemble
- Onion skin
- The early phase of Ewing sarcoma mimics what other disease
- Acute osteomyelitis
- What genetic defect is present in Ewing sarcoma
- 11,22 translocation
- Where does Ewing sarcoma arise
- Undifferentiated mesenchymal cells of the medullary cavity
- How does Ewing sarcoma appear on gross pathology
- Hemorrhagic and necrotic destruction of medullary cavity
- Microscopically, what is seen with Ewing sarcoma
- Undifferentiated small round cells in sheets or cords
- How is Ewing sarcoma treated
- Amputation of limb; possibly chemotherapy
- What is the prognosis with Ewing sarcoma
- Poor. Malignant course with early metastases; the 5 year survival rate is 0-12%
- Give another name for osteitis deformans
- Paget disease of the bone
- Define osteitis deformans
- Bone disease characterized by abnormal bony architecture with increases in osteoblastic and osteoclastic activity, and a “high turnover rateâ€
- Name the five most common locations of osteitis deformans
- Spine, pelvis, skull, femur, and tibia
- What population is most commonly affected with osteitis deformans
- Elderly persons
- What causes osteitis deformans
- Cause is unknown; an infectious nature is postulated
- Describe the clinical features of osteitis deformans
- Pain, fracture, and skeletal deformities; deafness when skull is involved; short stature when spine is involved
- Is osteitis deformans monostotic or polyostotic
- Both
- Microscopically, how does osteitis deformans appear
- Marked medullary fibrosis; disorganization of normal trabecular pattern
- What is the treatment for osteitis deformans, and why?
- Calcitonin or one of the diphosphonates. They decrease resorption, and thus decrease the high turnover rate
- What is avascular necrosis
- Necrosis of bone, usually the femoral head, caused by infarction
- Give 3 possible causes of avascular necrosis
-
Emboli
Decompression syndrome (the bends)
Sickle cell anemia - Radiologically, what is seen with avascular necrosis
- Reparative foci replacing necrotic bone
- With what other conditions is avascular necrosis commonly associated
-
Alcoholism
Corticosteroid treatment
Hyperuricemia
SLE
Trauma - What is the treatment for avascular necrosis
- Hemiarthroplasty
- When avascular necrosis occurs in the femoral head of children, what is it called
- Legg-Calve’-Perthes disease
- What disease is characterized by pain in weight-bearing joints, is worse after use, has crepitation with motion, no signs of inflammation, and is seen in the middle-aged population
- Osteoarthritis, aka degenerative joint disease
- What are signs of osteoarthritis on x-ray
- Joint space narrowing, osteophytes
- What are Herberden’s nodules
- Palpable DIP joints with osteophytes
- What are Bouchard’s nodules
- Palpable PIP joints with osteophytes
- What are some treatments of osteoarthritis
- NSAIDs and weight reduction to reduce strain on joints
- A 4 year old boy presents with arthralgias, soft hyperextensible skin, corneal and scleral abnormalities, joint laxity, and easy bruising. Diagnosis?
- Ehlers-Danlos syndrome
- A 32 year old female presents to your office complaining of morning stiffness for greater than 1 hour, pain in joints bilaterally, with fatigue and hand deformations over time. Diagnosis?
- Rheumatoid arthritis
- Which joints are most commonly involved in RA
- Wrists, PIP, and metacarpophalangeal
- What are some common findings with RA
-
Fever
Malaise
Pericarditis
Pleural effusions
Uveitis
Subcutaneous nodules - Which lab test should you order when you suspect RA
- Rheumatoid factor
- What is rheumatoid factor
- Immunoglobin M antibody to fragment crystallizable (Fc) portion of IgG
- What is the name for the chronic inflammation of cartilage found in RA
- Pannus
- What disease would be expected in a young woman that suffers with RA-like symptoms (polyarthritis), leukopenia, leg ulcers, and splenomegaly?
- Felty’s syndrome
- What disease is similar to RA (bilateral joint pain, fever) but is seen in children, along with rash and hepatosplenomegaly
-
Still’s disease (juvenile RA)
*Kids can’t sit Still when their joints hurt - What is different about pediatric RA
- It is often RF negative
- A 5 year old child presents with complaints in two joints. Which disease is this
- Pauciarticular juvenile RA
- What is a child with pauciarticular RA at risk for
- Iritis (do slit-lamp test)
- A 43 year old male presents to your clinic with a history of falling on his knee two days ago. Since then, the knee has become red, swollen, and warm. Diagnosis?
- Septic joint
- How can you diagnose septic joint
- Arthrocentesis with high white blood cells/ neutrophil count and Gram’s stain
- What is the most common causative organism of septic joint
- Staphylococcus aureus
- What are some common organisms that are found uniquely in the joints of infants and young children
-
Group B streptococci
Haemophilus influenzae - What are some common organisms associated with implantable devices and prosthetics
-
Staph aureus
Staphylococcus epidermidis
Gram-negative bacilli - A 23 year old male, sexually active college student arrives at your clinic complaining of a swollen red knee and urethritis. What organism is the most likely
- Neisseria gonorrhoeae
- How is the diagnosis made in a patient with gonorrhea
- Urethral swab
- How do you treat gonorrhea
- Ceftriaxone
- Which organism should be suspected in a patient with diabetes and osteomyelitis
- Pseudomonas
- Which organism should be suspected in a sickle cell patient with osteomyelitis
- Salmonella
- A 65 year old white male presents to clinic with a 2 hour history of sudden onset of extreme pain in his great toe. What disease should be suspected in this patient
- Gout
- What is podagra
- Gout of the metatarsophalangeal joint of the big toe
- What other findings should be looked for in a patient with gout
- Tophi, subcutaneous deposits of uric acid crystals
- How do tophi appear on x-ray
- “Punched out†lesions
- What lab tests help to diagnose gout
-
Uric acid level
Joint fluid aspiration of needle-shaped crystals with negative birefringence - What are contributing factors for gout
-
Thiazide diuretics
Lesch-Nyhan syndrome
Diets with high protein and alcohol - What is the treatment for gout
-
Acute—Colchicine, NSAIDs
Maintenance—Allopurinol - What diseases are associated with pseudogout
-
Hyperparathyroidism
Hemochromatosis - A 12 year old presents with migratory polyarthritis, rash, fever, and general malaise. She recalls having a sore throat about 3 weeks ago but did not get treatment. Diagnosis?
- Acute rheumatic fever
- What are the Jones criteria of rheumatic fever
-
Fever
Erythema marginatum
Verrucous valvular vegetations
Erythrocyte sedimentation rate increase
aRthritis
Subcutaneous nodules
Chorea (Sydenham’s)
Preceded by Streptococcus infection
*FEVERS and Chorea preceded by a Streptococcus infection