| Terms |
Definitions |
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Beak-sign
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SCFE
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Bowlegs
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Genu Varum
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Gull-wing Deformity
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OA
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Tendinitis
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Tendon inflammation
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c-ANCA
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Wegener's Granulomatosis
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Tendinosis
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Tendon degeneration
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osteoma
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benign
freq involves skull
hyperostosis frontalis interna: osteoma extends into orbit or sinuses
pathology: dense nl bone
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HLA-DQA1, HLA-DQB1
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Sjogren's Syndrome
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Multiple osteomas
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Gardener Syndrome
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Positively birefringent
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CPPD crystals
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osteosarcoma
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malignant
produces osteoid and bone
most common bone tumor
M>F, usua 2nd-3rd decade
assoc c Paget dx in older pts
presents c localized pain, swelling, weight loss, anemia
XR: Codman triangle (periosteal elevatoin) + bone destruxn
Pathology: large, necrotic, hemorrhagic mass
poor prog, met to lungs common
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Painful, progressively enlarging masses in the central portion of the skeleton including pelvis, shoulders and ribs
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Chondrosarcomas
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Ulnar Deviation of Fingers
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RA
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HLA-DR4
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RA, Giant Cell Arteritis
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osteochondromatosis
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bony metaphyseal projections capped with cartilage
Gardner syndrome: exostoses and colonic polyps -> may become carcinomas
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enchondromatosis
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cartilaginous masses w/n medullary cavity of bone
ollier dx: non-hereditary, multiple, most commonly hands and feet
present with pain and fx -> may undergo malignant transformation
Maffuci syndrome: familial; enchondromas and hemangiomas of skin
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osteoarthritis
|
degenerative joint dx
incidence inc with age (80% 70 y.o. in one jt)
aging or wear and tear most important mech
insidious onset with joint stiffness, dec ROM, and effusions
XR: narrowing of joint space due to loss of cartilage and osteosclerosis
joints: vertebrae, hips, knees, DIP jts of fingers
pathology:
subchondral cysts, eburnation, osteophytes, Heberden's nodes (DIP),Bouchard's nodes (PIP)
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Capital femoral epiphysis
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AKA Femoral Head
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Painful, aggressively enlargin masses, soft-tissue swelling, Codman's triangle, pulmonary metastases
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Osteosarcoma
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A widespread granulomatous inflammatory reaction leading to stenosis in the walls of medium and large size vessles (typically involves the aortic arch and its branches)
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Takayasu Arteritis
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Overactive osteoclastic bone resorption with resultant new bone formation
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Paget's Ds
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Infiltration by inflammatory cells (CD4, T+ B cells),release of cytokines IL-1 & TNF-alpha, increased vascularity, aggregation of fibrin - formation of pannus
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RA
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RANK
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Receptor Activator of Nuclear Factor-KB; chr. 18; a factor critical in controlling osteoclast function - assoc. with Paget's Ds
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achondroplasia
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AD form of dwarfism
abnl cartilage synthesis
mutation of FGFR3 (receptor)
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giant cell tumor
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malignant, uncommon
ages 20-50
arises in epiphyseal region of long bones
present as bulky mass c pain and tenderness
XR: expanding area of radiolucency without sclerotic rim
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Paget disease
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excessive bone resorption c replacement by soft, poorly mineralized matrix (woven) -> XR: enlarged, radioluscent bones
presents c pain, deformity, fxs
Lab: high high! alk phos
polyostotic: skull, pelvis, femur, vertebrae
alternates osteolytic -> osteoblastic phase
may cause bone hypervascularity c inc warmth of overlying skin
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suppurative arthritis
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tender, red swollen ("hot knee")
monoarticular - high PMN count in joint fluid
Staphylococcus
Streptococcus
Gonococci
Reiter syndrome: arthritis, uveitis, and conjunctivitis - possibly due to Chlamydia (can't pee, can't see, can't climb a tree)
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Necrotizing vasculitis of arterioles, capillaries and venules (commonly involves the lung and kidney)
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Microscopic polyangitis
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Benign tumor of interosseous hyaline cartilage
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Chondroma
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AA
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Amyloid associated protein - secreted by liver
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A mesenchymal tumor involving the overproduction of bone matrix
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Osteosarcoma
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Autosomal dominant disorder of skeletal development with deficient/ imperfect ossification of bones such as the clavicle, cranium and pelvis
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Cleidocranial dystosis
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Vascular infarction leading to the cellular death of bone tissue
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Osteonecrosis
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Podagra
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MSU gout of the big toe
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Fibrotic proliferation and formation of metaplastic bone in skeletal muscle (usually following a trauma)
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Myositis ossificans
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Rare, aggressive, malignant tumors of skeletal m.
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Rhabdomyosarcoma
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A chronic inflammatory myopathy that also involves dermatologic manifestations
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Dermatomyositis
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hyperparathyroidism
aka
osteitis fibrosa cystica
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osteoclasts resorb bone, kidney wastes Ca++
more common in primary hyperparathyroidism
presents c bone pain and fracture (fx)
fibrous replacement of marrow -> cystic spaces in bone and "brown tumors"
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chondromyxoid fibroma
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benign, rare
affects young M
firm mass w/n metaphyseal marrow cavity of the tibia or femur
contains fibrous and myxomatous tissue
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osteoporosis
|
dec in bone mass (esp postmenopausal F)
RF: estrogen deficiency, low density of orig bone, lack of exercise
all bones affected (XR: generalized radiolucency)
weight-bearing bones predisposed to fx
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Treatment for sarcoidosis
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First line- glucocorticoids; second line- methotrexate (MTX)
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Skin thickening confined to fingers, forearms and face, accompanied by CREST Syndrome
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Limited Scleroderma
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Most common soft tissue sarcoma of childhood and adolescence
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Rhabdomyosarcoma
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Arthritis, uveitis in a child under 16
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JRA
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RA, splenomegaly, abnormally low WBC count (granulocytopenia)
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Felty's Syndrome
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Congenital contractures and rigid jt deformities of multiple jts (LE>UE)
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Arthrogryposis multiplex
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Heliotropic rash in upper eyelids and periorbital edema that can worsen with sun exposure, B/L symmetrical proximal muscle weakness, erythema of knuckles with raised scaly eruptions (Grotton Lesions)
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Dermatomyositis
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Calcium phosphate crystals, often deposited on vessels
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Calcium Apatite Gout
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Accumulation of iron in body tissues (esp. liver and pancreas) accompanied by osteoarthritis-like sxs
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Hemochromatosis
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Causes of in-toeing
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Metatarsus adductus(most common cause in kids 3yrs)
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Cause of ~10% of scoliosis cases
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Congenital scoliosis
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Scoliosis appearing during or right after a growth spurt (ex: ~10 y/o)
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Congenital Scoliosis
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Secondary Amyloidosis
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Involves AA; reactive amyloidosis due to chronic disease
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ankylosing spondylitis
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mostly young M & +HLA-B27
assoc c IBD
involves SI joint + spine
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fibrous dysplasia
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focal fibrous replacement of bone that begins in medullary cavity and remains encased in cortical bone.
esp male teenagers
affects long bones, ribs, skull, facial bones -> pathologic fx
McCune-Albright syndrome: assoc of polyostotic fibrous dysplasia, cafe-au-lait spots, and sexual precocity in W
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Avascular necrosis of the femoral head in kids
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Legg-Calve-Perthes Disease
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Anti-Jo1 Antibody
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Seen in pts with Polymyositis and Dermatomyositis (more specific for PM than DM)
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Grade II Legg-Calve-Perthes Ds
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Rarified bone, avascular segment, Gage's Sign (a small osteoporotic region on radiographs that forms a transradiant V on the lateral side of the epiphysis), Metaphyseal rarefaction
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An aggressive, malignant tumor that usually arises in the musculature of the proximal extremities or in the mediastinum
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Malignant fibrous histiocytoma
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ANA, anticentromere antibodies
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Seen in patients with Limited Scleroderma
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"Hatchet Face"
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Associated with Myotonic Dystrophy - a narrowing of the face due to loss of mass in the masster mm.
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Adduction of the forefoot (causing the lateral border of the foot to appear convex)
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Metatarsus adductus
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Pain, joint locking and recurrent swelling of the knee; a tangled mat of red-brown folds is seen in the synovium
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Pigmented Villonodular Synovitis
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Degeneration of the anterior longitudinal ligament followed by ossification of the ALL; spans at least 4 segments
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Diffuse Idiopathic Skeletal Hyperotosis (DISH)
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Results from a lack of Vit. D
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Osteomalacia/ Rickets
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Rose Bengal Score or Lissamine Green Dye Test
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Sjogren's Syndrome
|
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Asymmetric arthritis of the DIP joints in a pt with nail pitting
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Psoriatic Arthritis
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Pathophysiology of gout
|
MSU crystals are chemotaxic to leukocytes, cytokines are released, inflammation follows; phagocytosis of crystals leads to cell repture and release of lysosomal enzymes furthering the inflammation(/ redness/ warmth?)
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Associatd with consumption of red meat and EtOH
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MSU gout
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juvenile RA (still dx)
|
peak 1-3 yrs
F>M
often preceded by acute febrile illness
sxs: periarticular swelling, LA, hepatosplenomegaly, neg RF
var course; resolution possible
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Baker Cyst
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A synovial cyst that develops in the popliteal space, often in the setting of an arthritis
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Bouchard's Nodes
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Osteophytes in the PIP jts of patients with OA
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Heberden's nodes
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Osteophytes in the DIP jts in patients with OA
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Gradual onset of vague pain in jt, catching/ locking of the joint, possibly jt effusion
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Osteochondritis dissicans
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Associated with ANKH gene
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Hereditary pseudogout; ANKH is a transmembrane inorganic pyrophosphate transport channel
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Loss of flexibility in the spine, loss of chest expansion
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Ankylosing Spondylitis
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Fever, chills, rash and acute onset of monoarthritis of the knee in a 27 y/o sexually active female
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Gonococcal Arthritis
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Benign tumor of fat
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Lipoma - soft, mobile and painless
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Pathophysiology of OA
|
Early changes involve a decrease in proteoglycans and an increase in water content with weakening of the collagen; IL1, TNF alpha and NO levels increase in the cartilage; chondrocyte apoptosis of the articular cartilage; eventually - thinning of the cartilage, subchondral sclerosis and osteophyte formation
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Causes of Congenital Scoliosis
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Partial or complete failure in vertebral formation; partial or complete failure in body segment formation
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Congo Red Staining
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Performed on bx specimens to dx amyloidosis
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A less common, later onset and slower progressing form of muscular dystrophy than Duchenne's Muscular Dystrophy
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Becker Muscular Dystrophy
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A benign tumor of smooth m.
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Leiomyoma - think uterine fibroids
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Weakness, poor endurance, discomfort, exertional dyspnea and tachycardia
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S/S of Mitochondrial Myopathy - mitochondrial myopathy is a myopathy due to mutations occurring in the mitochondrial genome
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Grade III Legg-Calve-Perthes Ds
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Most of the epiphysis is avascular, viable bone posterior and anterior, metaphyseal changes
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Cause of Cleidocranial Dystosis
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A mutation in the transcription factor CBFA1, which controls osteoblast differentiation
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Lab Tests for Osteomalacia/ Rickets
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Serum vit. D, PTH, Calcium, phosphorous and alk.phos. levels
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Insidious, progressive jt/ back pain in a patient with a positive PPD
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Tuberculous Arthritis (Pott's Ds when spinal involvement)
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5 Most common primary origins of neoplastic metastasis to bone
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Lung, Breast, Thyroid, Kidney, Prostate
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Dry eyes, Dry Mouth, B/L Parotid gland swelling
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Sjogren's Syndrome (Sicca Syndrome)
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Test for ANA, dsDNA, Smith, SSA and SSB antibodies
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Dx testing for SLE
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Most common cause of Pyogenic Osteomyelitis
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S.aureus (followed by H.influenza and GBS)
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Delayed motor milestones, marfanoid body type
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Late Infancy- Early Childhood form of Centronuclear Myopathy
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Obese teenage male presents with knee pain
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Slipped Capital Femoral Epiphysis (SCFE)
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Small interosseous abscesses involving the cortex of bone that are walled off by reactive bone
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Brodie Abscesses - seen in pyogenic osteomyelitis
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Symmetric arthritis of the LEs in a pt. with Chron's ds
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Arthritis of Inflammatory Bowel Ds
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Onset of mild, non-progressive limb weakness in the second or third decade of life
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Late childhood- Early Adult form of Centronuclear Myopathy
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ESR > 50 mm/h with normochromic, normocytic anemia
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Seen in 50% of polymyalgia rheumatica patients
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HLA-DR/DQ
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SLE
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p-ANCA
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Microscopic polyangitis
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Boutonniere Deformity
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RA
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chondrosarcoma
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malignant tumor
30-60 yrs
M>F
de-novo or from pre-existing enchondroma
slower growing than osteosarcomas
presents c pain and swelling
involves spine, pelvic bones and upper extremities
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Bamboo Spine
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Ankylosing Spondylitis
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Harrison groove
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Osteomalacia/ Rickets
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Swan Neck Deformity
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RA
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Housemaid's Knee
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Prepatellar bursitis
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Golfer's Elbow
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Medial Epicondylitis
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Small (
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Osteoid Osteoma
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pseudogout
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calcium pyrophosphate crystal deposition
assoc with multiple dx (Wilson dx, hypothyroidism, DM)
pos birefringence, rhomboid appearance
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HLA-B27
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Ankylosing Spondylitis, Reactive Arthritis
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Mushroom-shaped bony cartilage-capped growth
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Osteochondroma
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Associated with Sarcoidosis
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Erythema nodosum
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ANA, SS-A, SS-B
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Sjogren's Syndrome
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gout
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hyperuricemia -> deposition of monosodium urate crystals (needle-shape, neg birefringent) in jts -> recurrent bouts of arthritis
primary gout: 90%: due to inborn error of purine metabolism, usua from unknown enzyme deficiency (rare: Lesh-Nyhan)
secondary gout: unrelated to purine metabolism (example: leukemia)
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hypertrophic osteoarthropathy
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etiology: intrathoracic carcinoma, cyanotic congenital heart dx, IBD
presents as idiopathic painful swelling of wrists, fingers, ankles, knees or elbows
periosteal inflammation, new bones form at end of long bones, MC and MTs
arthritis often seen with digital clubbing
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enchondroma
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solitary cartilaginous growth with spongiosa of bone
solitary growths similar to those in multiple form (ollier)
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Most common neoplasm in women
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Leiomyoma
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Hypergammaglobulinemia and positive Hep B surface antigens in 30% of patients
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Polyarteritis nodosa
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Negatively birefringent under polarizing light microscope
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MSU crystals
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A dysraphism involving complete destruction of the SC
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Myeloschesis
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Osf2/ Cbfa1
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Osteoblast specific transcription factor 2/ core binding factor activity 1 - two genes associated with Cleidocranial dysotsis; located on Chr. 6p21
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Asymmetrical sterile arthritis following a GU or GI infection
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Reactive Arthritis
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Osteoclastic activity in underlying bone driven by RANKL from T-cells and synovial fibroblasts
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RA
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felty syndrome
|
polyarticular RA assoc with HLA-B27
with splenomegaly + leukopenia
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Rheumatoid Arthritis (RA)
|
progressive arthritis
F>M; 20-60 yrs
autoimmune rxn with formation of circulating Ab (Rheumatoid Factor)
sxs: low grade fever, malaise, fatigue, AM stiffness
PE: joint swelling, redness, warmth
SF: inc cells (PMNs) + poor mucin
inc ESR and hypergammaglobulinemia
XR: erosions and osteoporosis
starts in small jts of hands & feet; symmetrical
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ewing sarcoma
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malignant , rare
usual adolescents, often M
from mesenchymal cells
presents as pain, tenderness and early widespread dissemination
commonly affects pelvis, metaphysis of long tubular bones
t(11;22)
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osteoblastoma
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similar to osteoid osteoma
BUT large, painless
often involves vertebrae
may be malignant
|
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osteopetrosis
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osteoclasts unable to resorb bone
inc density of cortex with narrowing of erythropoeitic medullary cavities
presents with
brittle bones
anemia
blindness
deafness
hydrocephalus
CN palsies
AR: affects children -> early death (via anemia and infxn)
AD: affects adults -> fx
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Insidious onset of shortness of breath, cough, chest pain and hemoptysis; may also see constitutional s/s, eye involvement, splenomegaly & hepatomegaly
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Sarcoidosis
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Slow-growing benign tumor located on the subperiosteal or endosteal surfaces of skull or facial bones
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Osteomas
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Proliferation of synovial lining; contains chromosomal abnormalities
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Villonodular Synovitis
|
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Generalized mm. pain increased with exertion, fatigue, perception of swollen jt not present on PE
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Fibromyalgia
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Anti-Scl70
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Seen in patients with Diffuse Scleroderma
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Most common adult muscular dystrophy
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Myotonic Dystrophy
|
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Fever, malaise, weakness, arthralgias, anorexia + wt loss, persistent pneumonia, chronic sinusitis
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Wegener's granulomatosis
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Pencil-in-cup appearance of phalanges on X-ray
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Psoriatic Arthritis
|
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Symmetric proximal muscle weakness in the UE and LE, muscle pain/ tenderness, fatigue
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Polymyositis
|
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osteomyelitis
|
spread by direct inoculation of bone or hematologenous seeding
Staph aureus
Strep
Haem. influenzae
Salmonella (sickle cell dx)
Pseudomonas (IV drug users and diabetics)
Mycobac tuberculosis (Pott dx - spine)
presents with fever, localized pain, erythema and swelling
|
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osteoid osteoma
|
benign
affects diaphysis of long bones (often tibia or femur)
causes pain worse at night and relieved by ASA
XR: central radiolucency surr by sclerotic rim
Pathology: brown nodule surrounded by dense sclerotic cortical bone
|
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Deep, achy joint pain that worsens with use; jt enlargement; involvement of the DIP + PIP jts with MCP sparing
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OA
|
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Often associated with Polymyalgia rheumatica
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Giant Cell Arteritis
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Wide-spread skin thickening and rapid progression to fibrosis of visceral organs (GI, heart, kidneys, skeletal muscle and lungs)
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Diffuse Scleroderma
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An autosomal dominant disorder that manifests with fragility of the skeletal system due to structural or quantitative defects in collagen type I
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Osteogenesis Imperfecta
|
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AL
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Light chain amyloid - derived from plasma cells and contains immunoglobulin light chains
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Rare, aggressive neoplasm of the soft tissue
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Fibrosarcoma
|
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Patient initially presents with an area of pain and swelling in the muscle, that evolves into a painless mass and may eventually calcify to become a painful mass in the muscle
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Myositis ossificans
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Acute onset (hours) of monoarthritis of the first MTP jt - typically at night, accompanied by intense redness, heat and swelling
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MSU gout
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A necrotizing vasculitis most commonly affecting the respiratory and renal systems
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Wegener's Granulomatosis
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Disease progresses rapidly at first, then halts after 1-2 years, alowing for long-term survival
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Takayasu Arteritis
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Triad of acute necrotizing granulomas of the mucosa in the upper and lower respiratory tract, necrotizing granulomatous vasculitis affecting small to medium sized vessels,and focal necrotizing renal disease
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Wegener's Granulomatosis
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Severely degenerated joints secondary to loss of innervation to the joint
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Neuropathic (Charcot) Joints
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Inflammation of the thin inner synovial lining surrounding the tendons of the adductor policis longus and extensor policis brevis as they pass thru a common sheath at the base of the thumb and distal end of the radius
|
DeQuervain's tenosynovitis
|
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Abnormally high-positioned scapula
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Sprengel Deformity- congenital, may see webbing of skin btwn neck and scap.; may be assoc. with a Klippel-Feil Abnormality (fusion of any 2 cervical vert.)
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osteomalacia and rickets
|
Vitamin D deficiency due to:
chronic renal insufficiency
intestinal malabsorption
dietary deficiency
osteoid produced in nl amounts, but cannot calcify properly -> diffuse radiolucency on bone films
lo Ca++ and P, high alk phos
Rickets: children, prior to closure of epiphyses -> "rachitic rosary", bowing of legs and fxs
Osteomalacia: impaired mineralization of nl osteoid matrix; fx and deformities
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osteogenesis imperfecta
|
defect in type I collagen charac by
fragile bones
blue sclera
lax ligaments
Type 1: AD - mild to mod dx
Type 2: AR - stillborn infant - generalized crumpled bones
Type 3: AR - prog severe deformity; white sclera
Type 4: AD - var severity; nl sclera
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Necrotizing vasculitis of small and medium sized vessels, typically involves renal and other visceral organs (NO lung involvement)
|
Polyarteritis Nodosa (PAN)
|
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Grade IV Legg-Calve-Perthes Ds
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Total epiphyseal involvement, diffuse metaphyseal changes, no viable bone posterior, epiphyseal consolidation
|
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COL2A1
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Defect in this gene (for type II collagen) is seen in familial cases of osteonecrosis
|
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Most common site for leiomyosarcomas
|
Retroperitoneum or intra-abdominal; other common places include skin and deep soft tissue of extremities (typically associated wtih vv.)
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Most common form of systemic vasculitis in adults
|
Giant Cell Arteritis
|
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Increase tryptophan containing foods
|
May help prevent fibromyalgia flares
|
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Lab Studies for Polymyositis
|
Serum CK, LDH, Alanine Aminotransferase, Aldolase, CBC (leukocytosis or thrombocytosis), elevated ESR, ANA positive in 1/3 of patients, Anti-Jo1, Anti-signal recognition particles (Anti-SRP)
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PAX3- FKHR gene fusion dysregulating m. differentiation
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Pathogenesis of Rhabdomyosarcoma
|
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Galeazzi Sign
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A test for hip dysplasia invovling flexing the infant's knees while they're supine so that the feet are flat on the table; looking to see if the knees are level - unlevel knees = positive test
|
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3 common LE congenital abnormalities
|
1)fibular deficiency; 2)tibial deficiency; 3)longitudinal deficiency of the femur
|
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Barlow Test
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A Test for hip instability with dislocation occurring with flexion, adduction and a posterior force/ push
|
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Ortolani Test
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A test for hip dysplasia involving abduction and anterior pressure/ pull; "click/ clunk"
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ABCDEs of Arthritis
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Alignment of bones, Bone integrity, Cartilage/ jt space, Deformities, Erosions, Soft Tissue involvement
|
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Acute onset of a symmetrical small joint arthralgia that is self-limiting
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Viral Arthritis
|
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Fragile bones, blue sclera, and early deafness
|
Ostogenesis imperfecta
|
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Benign bone tumors that produce a dull pain unresponsive to ASA
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Osteoblastoma
|
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psoriatic arthritis
|
similar to RA, but no RF
assoc with HLA-B27
|
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Deep, achy pain referred to the paraspinal region that doesn't radiate and worsens on extension of the spine
|
Facet Joint Syndrome
|
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Pathogenesis of Scleroderma
|
Abnormal immune response from CD4 T cells and TH2 cells - abnl secretion of growth factors & cytokines, t-cell mediated fibrogenesis and vascular injury, abnl humeral response
|
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Elevated alk.phos level, pain, facial deformities and fractures
|
Seen in Paget's Ds
|
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Foot exhibits: plantar flexion (equines) of the ankle, adduction (varus) of the heel/ hindfoot, high arch (cavus), and adduction of the forefoot
|
Talipes Equinovarum (AKA Club Foot)
|
|
Grade I Legg-Calve-Perthes Ds
|
Less than 1/3 of epiphysis involved, cystic appearance, epiphyseal height maintained, viable tongue of epiphysis
|
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Newborn with more folds on one leg than the other
|
Congenital Hip Dysplasia
|
|
Most common causes of viral arthritis
|
Parvovirus B19, Rubella (including following a rubella vaccine), Hep B or C
|
|
Patient presents between ages 3 and 5 with delayed motor milestones with progressively worsening loss of strength and Gower's Sign, and joint contractures
|
Duchenne's Muscular Dystrophy
|
|
Tests for Congental Hip Dysplasia
|
Barlow Test, Ortolani Test, Galeazzi Sign
|
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Lab studies for Dermatomyositis
|
CPK, Aldolase, LDH, SGOT, SGPT, RF, ANA, Anti-Jo1, Anti-pMi-2,Anti-SRP
|
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Severe hypotonia and weakness at birth
|
Neonatal form of centronuclear myopathy
|
|
A cyst arising from a cystic or myxoid degeneration of CT; the cystic cavity lacks a true lining of cells
|
Ganglion Cyst
|
|
Cause of the pain in Osteoid Osteomas/ the reason the pain is relieved by ASA
|
Production of PGE2
|
|
Malignant tumor of fat
|
Liposarcoma - one of the most common sarcomas of adulthood
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Acute onset of tender, nodular, erythematous eruption usually found on the extensor aspects of the LEs
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Erythema nodosum - associated with sarcoidosis
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B/L low/ absent longitudinal arch; arch flattens when weight bearing and foot becomes pronated
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Hypermobile Pes Planus (rigid flat feet indicates a more concerning pathology)
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Benign, aggressive tumor containing multinucleated giant cells that look like osteoclasts
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Giant Cell Tumor - typically involves the knee
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4 common UE congenital Limb Abnormalities
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1)hypoplasia or absence of the thumb; 2)radial deficiency; 3) ulnar deficiency; 4)transverse deficiency of the forearem (complete absence fo the hand and wrist can occur)
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Dx of Duchenne's Muscular Dystrophy
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Serum CK levels, EMG and a bx (Western blot demonstrating decreased dystrophin)
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Why distal joints are more affected by gout than proximal ones
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Temperature - distal jts have a lower temp, so the MSU crystals precipitate out easier there
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Reason the nucleus is in the center of the m. in Centronuclear Myopathy
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Most likely involves a defect in the cytoskeleton of the m. cells, preventing marginalization of the nucleus
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