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410 Cards in this Set

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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
None
Why the name “marble bone” disease for osteopetrosis
Bones look short and block-like, and are radiodense, like marble
None
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
None
What are the 2 genetic variants of osteopetrosis
AR and AD
None
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
None
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
None
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
None
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
None
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
None
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
None
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
None
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
None
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
None
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
None
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
None
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
None
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
None
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
None
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
None
Name the 2 clinical signs of aneurysmal bone cysts
Pain
Soft tissue swelling
None
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
None
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
None
What are the 2 most frequent locations for osteochondroma
Distal femur
Proximal tibia
None
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
None
What are the 2 most frequent locations of giant cell tumor
Distal femur
Proximal tibia
None
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
None
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
None
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
None
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
None
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 rate”
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
None
Give 3 possible causes of avascular necrosis
Emboli
Decompression syndrome (the bends)
Sickle cell anemia
None
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
None
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
None
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
None
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
None
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
None
What are some common organisms associated with implantable devices and prosthetics
Staph aureus
Staphylococcus epidermidis
Gram-negative bacilli
None
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
None
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
None
What are contributing factors for gout
Thiazide diuretics
Lesch-Nyhan syndrome
Diets with high protein and alcohol
None
What is the treatment for gout
Acute—Colchicine, NSAIDs
Maintenance—Allopurinol
None
What diseases are associated with pseudogout
Hyperparathyroidism
Hemochromatosis
None
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
None
What is the distinctive inflammatory heart lesion associated with rheumatic fever
Aschoff’s bodies
What is the causative organism of the sore throat in rheumatic fever
Group A β-hemolytic streptococci
None
What is the actual cause of rheumatic fever
Hypersensitivity—cross reaction antibodies against M protein of Streptococci
Which titers are elevated with rheumatic fever
Antistreptolysin O titer; ESR
Which hematologic disease is associated with avascular necrosis of the femoral head
Sickle cell anemia
A patient presents with urethritis, conjunctivitis, arthritis, and happens to be HLA-B27 positive. Diagnosis?
Reiter disease
*Can’t pee, can’t see, can’t kick with your knee
None
Previous exposure to which bacteria can precipitate Reiter disease
Chlamydiae
Shigella
Salmonella
Campylobacter
Yersinia species
None
A 35 year old white male presents with diffuse red/purple plaques with silver scale on extensor surfaces and scalp. What disease is suspected
Psoriasis
What other symptoms are common with psoriasis
Nail pitting
Psoriatic arthritis with sausage digits
None
What is the most common form of psoriatic arthritis
Asymmetric arthritis in fingers or toes
What is the phenomenon that describes the development of a psoriatic plaque in an area of previous trauma
Koebner phenomenon
What is the name of the sign that occurs when a small amount of scale is removed from a psoriatic plaque, leaving small bleeding points behind
Auspitz sign
What can precipitate an outbreak of psoriasis
Infection
Stress
Sunburn
Drugs— β-blockers, lithium, and antimalarials
None
What is used to treat psoriasis
Psoralen ultraviolet A (PUVA)
Retinoids
Methotrexate
Cyclosporin
None
What HLA type is associated with psoriatic arthritis
HLA-B27
A 28 year old African-American female presents to the clinic with new onset of fatigue, weight loss, joint pain, and Raynaud’s phenomenon. On exam, she is found to have a malar rash. Diagnosis?
SLE
What are the official criteria for the diagnosis of SLE
Oral ulcers
Renal disorder
Photosensitivity
Hematologic (anemias, cytopenias)
Arthritis (nonerosive synovitis)
Neurologic (seizures, psychosis)
Serositis
Malar rash
Antinuclear antibody
Immunologic (anti-DNA, anti-Smith, false positive rapid plasma reagin/Venereal Disease research Laboratory [RPR/VDRL])
Discoid rash

*The ORPHAN’S MAID has Lupus
*Need 4/11 criteria for diagnosis
None
In which sex and race is SLE most common and severe
Black females
What cardiac lesion is associated with SLE in the adult and consists of nonbacterial verrucous valvular vegetations
Libman-Sacks endocarditis
What are some causes for chest pain in a patient with SLE
Pleuritis
Pericarditis
None
A 30 year old white male presents with new onset of SLE-like symptoms. Which drugs can cause these
Hydrazine
INH
Procainamide
Phenytoin

*You won’t be HIPP with drug-induced Lupus
None
Which antibody system is associated with drug-induced Lupus
Antihistone
How are the manifestations of SLE in the kidney classified
Type I—appears normal by light microscopy
Type II—mesangial lupus glomerulonephritis
Type III—focal proliferative glomerulonephritis
Type IV—diffuse proliferative glomerulonephritis
Type V—membranous glomerulonephritis
None
What are wire-loop lesions in the kidney and what do they represent
Thickening of the capillary wall found in diffuse proliferative glomerulonephritis; indicate a poor prognosis with SLE
Which neoplasm is associated with SLE and myasthenia gravis
Thymoma
Which antibody is sensitive but not specific for the diagnosis of SLE
Antinuclear antibody
Which two antibodies are very specific for SLE
Anti-Smith
Antidouble-stranded DNA
None
A black female with SLE delivered an infant with bradycardia, which is later found to have AV-block. What autoantibody could have caused this congenital heart block
Anti-Rho antibodies which cross the placenta
Which two HLA types is SLE linked to
HLA-DR2 and HLA-DR3
An 18 year old female patient presents with a 5 week history of arthritis, fever, 15lb weight loss, and diarrhea. What diseases should be considered
Inflammatory bowel disease—Crohn’s and ulcerative colitis
On physical exam, a patient is found to have a right lower quadrant abdominal mass and positive fecal occult blood. Radiographic studies show a thickened terminal ileum, skip lesions, and areas of stricture. Diagnosis?
Crohn’s disease
What are systemic symptoms of Crohn’s disease
Aphthous ulcers
Erythema nodosum
Uveitis
None
What is the cause of Crohn’s disease
Idiopathic
Associated with HLA-B27
None
What findings would be expected on gross examination of a biopsy taken for a small bowel with Crohn’s disease
Sharp demarcation of diseased bowel (skip lesions); Linear ulcers; Cobblestone mucosa; Sinus tract/fistula formation; Creeping fat around the bowel surface; *The old Crohn skips down the cobblestone tract
What findings would be expected histologically in Crohn’s disease
Transmural inflammation of bowel wall; Noncaseating granulomas; Mucosal damage; Ulceration
What are treatment options for Crohn’s disease
Sulfasalazine; Corticosteroids; Bowel rest; Surgery (fistulas, obstruction); B12 supplements for malabsorption
A 22 year old white female presents with a 2 week history of migratory polyarthritis, 15 lb weight loss, and grossly bloody mucoid diarrhea. Diagnosis?
Ulcerative colitis
What features are characteristics of ulcerative colitis
Continuous involvement beginning at rectum; Microabscesses; Pseudopolyps; Superficial ulceration
A patient with established ulcerative colitis presents to the ER with high fever and symptoms of shock and abdominal distention. What must be suspected
Toxic megacolon
What systemic illnesses do patients with ulcerative colitis exhibit
Toxic megacolon; Colon cancer; Primary sclerosing cholangitis; Pyoderma gangrenosum; Uveitis; Erythema nodosum
What are the major differences that separate UC from Crohn’s
No skip lesions, no granulomas, no fistulas/sinuses in ulcerative colitis
A 45 year old white female presents with a 3 month history of diarrhea, fatty white stools, and a rash that was diagnosed as dermatitis herpetiformis. What is her probable diagnosis
Celiac sprue
What causes celiac sprue
Antigliaden antibody (IgA antiendosomal)
What pathology would be seen in biopsy of celiac sprue
Blunting of villi; Lymphocytes in the lamina propria
What dietary recommendations should celiac sprue patients follow
Avoid all foods containing gliadin (gluten), including wheat and beer
A 33 year old white male complains of joint pain. He mentions that he has noticed an increase in pigmentation along with frequent urination and a strange tendency to set off metal detectors. Diagnosis?
Hemochromatosis
What are the symptoms for hemochromatosis
Bronze diabetes; Congestive heart failure; Micronodular cirrhosis
What type of cancer are patients with hemochromatosis at risk of
Hepatocellular cancer
What is the cause of the symptoms of hemochromatosis
Increased iron deposition
Besides increased iron supply, what are other important lab findings in hemochromatosis
Increased ferritin
Increased transferrin
Positive Prussin blue stain
None
What is the inheritance pattern of primary hemochromatosis
Autosomal recessive
What is the cause of hemochromatosis as a secondary disorder
Chronic blood transfusions
What are treatment options for hemochromatosis
Phlembotomy; Deferoxamine
An 18 year old football player complains of joint pain, bruising, and somewhat limited range of motion. He reports that he has always been a free bleeder. Diagnosis?
Hemarthroses associated with hemophilia
A 15 year old boy scout complains of a 2 week history of flu-like illness and joint pain which started in his left knee, and now is in his right knee. It all began after a camping trip in Connecticut. Diagnosis?
Lyme disease
What causes Lyme disease
Borrelia burgdorferi, which is transmitted by Ixodes tick bites
A boy scout with Lyme disease recalls a strange bull’s eye rash that appeared and then disappeared before he could get an appointment. What is the rash called
Erythema chronicum migrans
What cardiac complications are possible with Lyme disease
First-degree AV-block
What are the treatments for Lyme disease
Tetracycline; Doxycycline
A 34 year old abstinent Asian patient presents with a several year history of arthritis, recurrent genital and oral ulcers, and a painful rash over the pretibial areas. Diagnosis?
Behcet’s disease
An 18 year old man presents with migratory arthritis, currently in his ankle, a rash, and pain with urination. A Gram’s stain of urethral discharge shows gram-negative cocci. Diagnosis?
Gonococcal arthritis
A 24 year old man recently diagnosed and treated for chlamydia complains of persistent joint pain with tender Achilles’ tendons and eye irritation. Diagnosis?
Reiter’s reactive arthritis
A 28 year old male presents with a 2 week history of joint pain, fever, malaise, as well as a new rash all over his body including his palms and soles. Diagnosis?
Secondary (disseminated) syphilis
A patient with syphilis describes two papular lesions on his penis that are gray-white. What are these lesions
Condylomata lata of the secondary stage of syphilis
None
A patient with syphilis admits that initially he had a red, firm, painless sore on his penis 6 weeks ago, but it disappeared. What is the lesion called
Chancre—the primary stage of syphilis
What is the best way to diagnose syphilis in the primary stage
Darkfield exam
Which serologic test detects syphilis the earliest, is the most specific, and stays positive even after treatment
Fluorescent treponemal antibody absorption test (FTA-ABS)
Which serologic tests are used for presumptive diagnosis of syphilis
VDRL and RPR
What are treatment options for syphilis in primary and secondary stages
Penicillin G—intramuscular
What is the classic reaction hours after treatment for syphilis that involves shaking chills, sore throat, myalgia, and malaise
Jarisch-Herxheimer reaction
If a patient with secondary syphilis is not treated, what are some outcomes in the following years
One third of patients get tertiary syphilis (1-40 years after infection); Two thirds have no further symptoms
What are some of the findings in tertiary syphilis
Iritis (Argyll Robertson pupil); Aortitis; Neurosyphilis (tabes dorsalis, paresis); Gummas
A 20 year old black male presents with a 1 month history of worsening back pain that is worse in the morning and improves with exercise. What is the suspected diagnosis
Ankylosing spondylitis
None
What are some associated findings with ankylosing spondylitis
Positive family history; Uveitis; Anemia
What clinical test for ankylosing spondylitis should be performed in the office
Schober test—decreased angle of anterior flexion of the back, eliciting pain
What is the genetic association of ankylosing spondylitis
AR, HLA-B27
What is classic sign of ankylosing spondylitis on radiographs
Bamboo spine
A 45 year old male smoker complains of cold sensitivity and pain in his fingers. Some fingers have signs of gangrene. What is he suffering from
Buerger’s disease (smoking and thromboangiitis obliterans)
None
What are the signs and symptoms of Buerger’s disease
Intermittent claudication of small vessels; Raynaud’s phenomenon; Nodular phlebitis
What HLA types are increased in patients with Buerger’s disease
HLA-A9 and HLA-B5
None
What is the treatment for Buerger’s disease
Stop smoking
A 22 year old Asian female presents to your office with arthritis, fevers, night sweats, change in vision, and skin nodules. On physical exam, she is found to have weak and uneven pulses in the upper extremities. What disease should be ruled out
Takayasu’s arteritis (pulselessness disease)
What vessels does Takayasu's arteritis affect
Medium and large arteries
None
What lab test is usually abnormal in Takayasu’s arteritis
ESR (elevated)
What imaging test should be done to confirm Takayasu’s arteritis
Angiogram
In Takayasusu’s arteritis, what would an angiogram reveal
Thickening (granulomatous inflammation) of the aortic arch and proximal vessels
What are some complications of Takayasu’s arteritis
Pulmonary hypertension; Stroke
A 4 year old Japanese female presents to the ER with a 5 day history of fever above 102, arthritis, bright red lips, swollen hands and feet, and swollen lymph nodes. Diagnosis
Kawasaki disease (mucocutaneous lymph node syndrome)
What are the criteria for a diagnosis of Kawasaki disease
Fever >5 days; Lymphadenopathy; Bilateral conjunctival injection; Mucosal changes (fissuring, injection, strawberry tongue, erythema); Extremitiy changes (edema, erythema); Rash (truncal, may be desquamative); Arthritis (may be present)
What are the major complications of Kawasaki disease
Myocardial infarction and coronary artery aneurysms
What autoantibodies are found in Kawasaki disease
Antiendothelial antibodies
Which vessels does Kawasaki disease typically affect
Large, medium, and small arteries
What should be done if Kawasaki disease is suspected
Treat with aspirin and IV immunoglobuliins
Why is Kawasaki disease one of the only indications for using aspirin in children
Reye’s syndrome limits the use of aspirin in children, except in the treatment for Kawasaki disease
A 7 year old boy presents with arthritis, lower extremity palpable purpura, abdominal pain, and blood in the stool and urine. Diagnosis?
Henoch-Schonlein purpura
What are two common histories with Henoch-Schonlein purpura
Post-streptococcal infection or upper respiratory infection; History of insect bites
What types of immune complexes are found in tissue biopsy of Henoch-Schonlein purpura
IgA dominant
Which vessels are mainly affected in Henoch-Schonlein purpura
Small vessels (capillaries, venules, and arterioles)
None
A young man presents with arthritis, asthma, allergy, weight loss, fever, and vasculitis. What disease is suspected
Churg-Strauss syndrome
What are some laboratory findings of Churg-Strauss syndrome
Blood eosinophilia; Increased IgE
Which vessels are affected in Churg-Strauss syndrome
Small and medium sized vessels
Which autoantibody groups are associated with Churg-Strauss
Antineutrophil cytoplasmic antibody (ANCA); Antimyeloperoxidase
A 65 year old female presents with increasing headache, vision changes, scalp pain, and jaw pain. She also complains of a few previous months of aching joints and muscles. What should immediately be suspected
Temporal (giant cell) arteritis
What should be done immediately when temporal (giant cell) arteritis is suspected
Start high-dose steroids
What is the major complication of temporal arteritis that prompts administration of steroids
Blindness
Which lab test is elevated in temporal arteritis
ESR
What is the diagnostic test that confirms temporal arteritis
Temporal artery biopsy
What would a biopsy of temporal arteritis show
Granulomatous arteritis
What other disease is strongly associated with temporal arteritis
Polymyalgia rheumatica
A 42 year old male presents with chronic sinusitis, hemoptysis, necrotizing granulomas of the nose and palate, and a previous diagnosis of crescentic glomerulitis. Diagnosis?
Wegener’s granulomatosis
Which vessels are usually affected in Wegener’s granulomatosis
Medium and small vessels of the respiratory tract and kidneys
None
Which antibody is found in Wegener’s
Cytoplasmic-ANCA (c-ANCA), predominantly antiproteinase 3
What deformity is associated with Wegener’s
Saddle nose deformity
Besides Wegener’s, what is the other disease that involves both the respiratory tract (hemoptysis) and kidney (renal failure)
Goodpasture’s syndrome
What is the antibody associated with Goodpasture’s syndrome
Antiglomerular basement membrane
What does immunoflorescence of affected tissue in Goodpasture’s syndrome show
Linear deposits of IgG and C3 in the glomerular basement membrane
A 40 year old black female present with increasing shortness of breath, polyarthritis, change in vision, fevers, and malaise. On chest x-ray, there is bilateral hilar lymphadenopathy. What is the most likely diagnosis
Sarcoidosis
What electrolyte abnormality is common with sarcoidosis
Hypercalcemia
On biopsy of affected tissue, what is the classic finding in sarcoidosis
Noncaseating granulomas
What skin findings are associated with sarcoidosis
Erythema nodosum; Lupus pernio
A 26 year old white male presents with malaise, fever, weight loss, hypertension, ab pain, and melena. He has a history of hepatitis B and drug use. What disease is suspected
Polyarteritis nodosa (PAN)
How is a diagnosis of polyarteritis made
Tissue biopsy showing transmural necrotizing arteritis of medium-sized arteries
What is the treatment for polyarteritis nodosa
Steroids and cyclophosphamide
What is the disease that is a variation of polyarteritis nodosa, which affects smaller arterioles, capillaries, and venules rather than the larger vessels
Microscopic polyangiitis (leukocytoclastic vasculitis)
What clinical symptoms do patients with microscopic polyangiitis have
Hemoptysis; Hematuria; Abdominal pain/blood in stool; Skin findings (purpura)
Which antibody is microscopic polyangiitis most closely associated with
p-ANCA
A 50 year old man presents with fever, arthralgias, and palpable purpura on the lower extremities after starting several new medications. What is the most likely diagnosis
Hypersensitivity angiitis
How is the diagnosis of hypersensitivity angiitis made
Skin biopsy showing infiltration of dermal capillaries
A 55 year old white female presents with polyarthritis, dysphagia and reflux esophagitis, pulmonary fibrosis, and hypertension. On exam, her face appears tight and masklike and she has swelling of the hands and thickening of the skin. What is the most likely diagnosis
Scleroderma (systemic scleroderma)
What is the autoantibody that is most closely associated with scleroderma
Anti-DNA topoiosomerase I (anti-Scl-70)
What is the more limited version of scleroderma
CREST syndrome
What are the characteristics of CREST syndrome
Calcinosis (subcutaneous); Raynaud phenomenon; Esophageal dysfunction; Sclerodactyly; Telangiectasia
What antibodies are most closely associated with CREST syndrome
Anticentromere antibody
A 50 year old white female presents with very dry mouth (xerostomia) and dry eyes (keratoconjunctivitis sicca). She reports that she has several dental caries filled recently. What is the most likely syndrome
Sjogren’s disease
What are some GI symptoms commonly associated with Sjogren’s
Constipation and pancreatic insufficiency due to gland destruction
How is Sjogren’s disease diagnosed
Lip biopsy; Schirmer’s test (showing decreased lacrimation)
What autoantibodies are associated with Sjogren’s disease
Antinuclear antibody (ANA) (nonspecific) and antinucleoprotein antibodies (SS-A[Ro] and SS-B)
What are patients with Sjogren’s at risk for developing
Lymphoma
A 23 year old white female presents with a 6 month history of weight loss, muscle weakness, palpitations, diarrhea, and fine tremor. Tachycardia and exophthalmos are present. What do you suspect
Graves’ disease (diffuse toxic goiter)
What autoantibody causes Graves disease
Thyroid-stimulating hormone (TSH)-receptor antibody
A 23 year old white female develops limb weakness, ptosis, diplopia, and difficulty chewing. Weakness improves after rest. Sensation and reflexes remain intact and normal. What disease is suspected
Myasthenia gravis
How is the diagnosis of myasthenia gravis confirmed
Edrophonium challenge temporarily improves muscle strength
What is edrophonium
Anticholinesterase inhibitor
What causes myasthenia gravis
Antiacetylcholine-receptor antibody
What HLA type is associated with myasthenia gravis
HLA-DR3
What diseases are associated with myasthenia gravis
Thymoma; Thyrotoxicosis
What treatments are available for myasthenia gravis
Anticholinesterase drugs; Corticosteroids; Thymectomy; Plasmapheresis
A 55 year old white woman presents with 1 month history of proximal muscle weakness and pain, increasing fatigue, and malaise. What disease should be ruled out
Polymyositis
What lab finding support the diagnosis of polymyositis
Increased ESR; Increased CPK; Increased aldolase; Increase LDH; Antinuclear may be positive; Abnormal electromyography
What is the only specific test that provides a definitive diagnosis of polymyositis
Muscle biopsy showing lymphoid inflammation
What disease is characterized by symptoms and lab values similar to polymyositis, but also has a lilac edematous rash on the eyelids
Dermatomyositis
What is the name of the rash on the eyelids found in dermatomyositis
Heliotrope rash
What are patients with dermatomyositis and polymyositis at an increased risk of developing
Ovarian cancer
What is the treatment for dermatomyositis and polymyositis
High-dose steroids
A 55 year old white female complains of 3 months of neck stiffness, pelvic and pectoral girdle weakness, and pain, fatigue, and malaise. What is the most likely diagnosis
Polymyalgia rheumatica
What lab values would be abnormal in polymyalgia rheumatica
Elevated ESR
With what disease is polymyalgia rheumatica associated
Temporal arteritis
A 45 year old white woman presents with a 2 month history of decreased sleep and several (>11) very tender points on her anterior and posterior torso and neck that produce extreme pain with palpation. She has a history of anxiety disorder and depression. Diagnosis?
Fibromyalgia
What lab values should be evaluated in fibromyalgia
CBC—normal; ESR—normal
How should a patient with fibromyalgia be treated
NSAIDs and antidepressants