Complete List of Terms and Definitions for Musculoskeletal Disorders

Terms Definitions
Beak-sign SCFE
Bowlegs Genu Varum
Gull-wing Deformity OA
Tendinitis Tendon inflammation
c-ANCA Wegener's Granulomatosis
Tendinosis Tendon degeneration
osteoma benign
freq involves skull
hyperostosis frontalis interna: osteoma extends into orbit or sinuses
 
pathology: dense nl bone 
HLA-DQA1, HLA-DQB1 Sjogren's Syndrome
Multiple osteomas Gardener Syndrome
Positively birefringent CPPD crystals
osteosarcoma 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 
Painful, progressively enlarging masses in the central portion of the skeleton including pelvis, shoulders and ribs Chondrosarcomas
Ulnar Deviation of Fingers RA
HLA-DR4 RA, Giant Cell Arteritis
osteochondromatosis bony metaphyseal projections capped with cartilage
 
Gardner syndrome: exostoses and colonic polyps -> may become carcinomas
enchondromatosis 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
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) 
Capital femoral epiphysis AKA Femoral Head
Painful, aggressively enlargin masses, soft-tissue swelling, Codman's triangle, pulmonary metastases Osteosarcoma
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) Takayasu Arteritis
Overactive osteoclastic bone resorption with resultant new bone formation Paget's Ds
Infiltration by inflammatory cells (CD4, T+ B cells),release of cytokines IL-1 & TNF-alpha, increased vascularity, aggregation of fibrin - formation of pannus RA
RANK Receptor Activator of Nuclear Factor-KB; chr. 18; a factor critical in controlling osteoclast function - assoc. with Paget's Ds
achondroplasia AD form of dwarfism
abnl cartilage synthesis
mutation of FGFR3 (receptor) 
giant cell tumor 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 
Paget disease 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 
suppurative arthritis 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)
Necrotizing vasculitis of arterioles, capillaries and venules (commonly involves the lung and kidney) Microscopic polyangitis
Benign tumor of interosseous hyaline cartilage Chondroma
AA Amyloid associated protein - secreted by liver
A mesenchymal tumor involving the overproduction of bone matrix Osteosarcoma
Autosomal dominant disorder of skeletal development with deficient/ imperfect ossification of bones such as the clavicle, cranium and pelvis Cleidocranial dystosis
Vascular infarction leading to the cellular death of bone tissue Osteonecrosis
Podagra MSU gout of the big toe
Fibrotic proliferation and formation of metaplastic bone in skeletal muscle (usually following a trauma) Myositis ossificans
Rare, aggressive, malignant tumors of skeletal m. Rhabdomyosarcoma
A chronic inflammatory myopathy that also involves dermatologic manifestations Dermatomyositis
hyperparathyroidism
aka
osteitis fibrosa cystica 
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" 
chondromyxoid fibroma benign, rare
affects young M
firm mass w/n metaphyseal marrow cavity of the tibia or femur
 
contains fibrous and myxomatous tissue 
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 
Treatment for sarcoidosis First line- glucocorticoids; second line- methotrexate (MTX)
Skin thickening confined to fingers, forearms and face, accompanied by CREST Syndrome Limited Scleroderma
Most common soft tissue sarcoma of childhood and adolescence Rhabdomyosarcoma
Arthritis, uveitis in a child under 16 JRA
RA, splenomegaly, abnormally low WBC count (granulocytopenia) Felty's Syndrome
Congenital contractures and rigid jt deformities of multiple jts (LE>UE) Arthrogryposis multiplex
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) Dermatomyositis
Calcium phosphate crystals, often deposited on vessels Calcium Apatite Gout
Accumulation of iron in body tissues (esp. liver and pancreas) accompanied by osteoarthritis-like sxs Hemochromatosis
Causes of in-toeing Metatarsus adductus(most common cause in kids 3yrs)
Cause of ~10% of scoliosis cases Congenital scoliosis
Scoliosis appearing during or right after a growth spurt (ex: ~10 y/o) Congenital Scoliosis
Secondary Amyloidosis Involves AA; reactive amyloidosis due to chronic disease
ankylosing spondylitis mostly young M & +HLA-B27
assoc c IBD
involves SI joint + spine 
fibrous dysplasia 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
Avascular necrosis of the femoral head in kids Legg-Calve-Perthes Disease
Anti-Jo1 Antibody Seen in pts with Polymyositis and Dermatomyositis (more specific for PM than DM)
Grade II Legg-Calve-Perthes Ds 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
An aggressive, malignant tumor that usually arises in the musculature of the proximal extremities or in the mediastinum Malignant fibrous histiocytoma
ANA, anticentromere antibodies Seen in patients with Limited Scleroderma
"Hatchet Face" Associated with Myotonic Dystrophy - a narrowing of the face due to loss of mass in the masster mm.
Adduction of the forefoot (causing the lateral border of the foot to appear convex) Metatarsus adductus
Pain, joint locking and recurrent swelling of the knee; a tangled mat of red-brown folds is seen in the synovium Pigmented Villonodular Synovitis
Degeneration of the anterior longitudinal ligament followed by ossification of the ALL; spans at least 4 segments Diffuse Idiopathic Skeletal Hyperotosis (DISH)
Results from a lack of Vit. D Osteomalacia/ Rickets
Rose Bengal Score or Lissamine Green Dye Test Sjogren's Syndrome
Asymmetric arthritis of the DIP joints in a pt with nail pitting Psoriatic Arthritis
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?)
Associatd with consumption of red meat and EtOH MSU gout
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 
Baker Cyst A synovial cyst that develops in the popliteal space, often in the setting of an arthritis
Bouchard's Nodes Osteophytes in the PIP jts of patients with OA
Heberden's nodes Osteophytes in the DIP jts in patients with OA
Gradual onset of vague pain in jt, catching/ locking of the joint, possibly jt effusion Osteochondritis dissicans
Associated with ANKH gene Hereditary pseudogout; ANKH is a transmembrane inorganic pyrophosphate transport channel
Loss of flexibility in the spine, loss of chest expansion Ankylosing Spondylitis
Fever, chills, rash and acute onset of monoarthritis of the knee in a 27 y/o sexually active female Gonococcal Arthritis
Benign tumor of fat Lipoma - soft, mobile and painless
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
Causes of Congenital Scoliosis Partial or complete failure in vertebral formation; partial or complete failure in body segment formation
Congo Red Staining Performed on bx specimens to dx amyloidosis
A less common, later onset and slower progressing form of muscular dystrophy than Duchenne's Muscular Dystrophy Becker Muscular Dystrophy
A benign tumor of smooth m. Leiomyoma - think uterine fibroids
Weakness, poor endurance, discomfort, exertional dyspnea and tachycardia S/S of Mitochondrial Myopathy - mitochondrial myopathy is a myopathy due to mutations occurring in the mitochondrial genome
Grade III Legg-Calve-Perthes Ds Most of the epiphysis is avascular, viable bone posterior and anterior, metaphyseal changes
Cause of Cleidocranial Dystosis A mutation in the transcription factor CBFA1, which controls osteoblast differentiation
Lab Tests for Osteomalacia/ Rickets Serum vit. D, PTH, Calcium, phosphorous and alk.phos. levels
Insidious, progressive jt/ back pain in a patient with a positive PPD Tuberculous Arthritis (Pott's Ds when spinal involvement)
5 Most common primary origins of neoplastic metastasis to bone Lung, Breast, Thyroid, Kidney, Prostate
Dry eyes, Dry Mouth, B/L Parotid gland swelling Sjogren's Syndrome (Sicca Syndrome)
Test for ANA, dsDNA, Smith, SSA and SSB antibodies Dx testing for SLE
Most common cause of Pyogenic Osteomyelitis S.aureus (followed by H.influenza and GBS)
Delayed motor milestones, marfanoid body type Late Infancy- Early Childhood form of Centronuclear Myopathy
Obese teenage male presents with knee pain Slipped Capital Femoral Epiphysis (SCFE)
Small interosseous abscesses involving the cortex of bone that are walled off by reactive bone Brodie Abscesses - seen in pyogenic osteomyelitis
Symmetric arthritis of the LEs in a pt. with Chron's ds Arthritis of Inflammatory Bowel Ds
Onset of mild, non-progressive limb weakness in the second or third decade of life Late childhood- Early Adult form of Centronuclear Myopathy
ESR > 50 mm/h with normochromic, normocytic anemia Seen in 50% of polymyalgia rheumatica patients
HLA-DR/DQ SLE
p-ANCA Microscopic polyangitis
Boutonniere Deformity RA
chondrosarcoma 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 
Bamboo Spine Ankylosing Spondylitis
Harrison groove Osteomalacia/ Rickets
Swan Neck Deformity RA
Housemaid's Knee Prepatellar bursitis
Golfer's Elbow Medial Epicondylitis
Small ( Osteoid Osteoma
pseudogout calcium pyrophosphate crystal deposition
assoc with multiple dx (Wilson dx, hypothyroidism, DM)
 
pos birefringence, rhomboid appearance 
HLA-B27 Ankylosing Spondylitis, Reactive Arthritis
Mushroom-shaped bony cartilage-capped growth Osteochondroma
Associated with Sarcoidosis Erythema nodosum
ANA, SS-A, SS-B Sjogren's Syndrome
gout 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) 
hypertrophic osteoarthropathy 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 
enchondroma solitary cartilaginous growth with spongiosa of bone
solitary growths similar to those in multiple form (ollier) 
Most common neoplasm in women Leiomyoma
Hypergammaglobulinemia and positive Hep B surface antigens in 30% of patients Polyarteritis nodosa
Negatively birefringent under polarizing light microscope MSU crystals
A dysraphism involving complete destruction of the SC Myeloschesis
Osf2/ Cbfa1 Osteoblast specific transcription factor 2/ core binding factor activity 1 - two genes associated with Cleidocranial dysotsis; located on Chr. 6p21
Asymmetrical sterile arthritis following a GU or GI infection Reactive Arthritis
Osteoclastic activity in underlying bone driven by RANKL from T-cells and synovial fibroblasts RA
felty syndrome polyarticular RA assoc with HLA-B27
with splenomegaly + leukopenia 
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 
ewing sarcoma 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) 
osteoblastoma similar to osteoid osteoma
BUT large, painless
often involves vertebrae
may be malignant 
osteopetrosis 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 
Insidious onset of shortness of breath, cough, chest pain and hemoptysis; may also see constitutional s/s, eye involvement, splenomegaly & hepatomegaly Sarcoidosis
Slow-growing benign tumor located on the subperiosteal or endosteal surfaces of skull or facial bones Osteomas
Proliferation of synovial lining; contains chromosomal abnormalities Villonodular Synovitis
Generalized mm. pain increased with exertion, fatigue, perception of swollen jt not present on PE Fibromyalgia
Anti-Scl70 Seen in patients with Diffuse Scleroderma
Most common adult muscular dystrophy Myotonic Dystrophy
Fever, malaise, weakness, arthralgias, anorexia + wt loss, persistent pneumonia, chronic sinusitis Wegener's granulomatosis
Pencil-in-cup appearance of phalanges on X-ray Psoriatic Arthritis
Symmetric proximal muscle weakness in the UE and LE, muscle pain/ tenderness, fatigue Polymyositis
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
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 
Deep, achy joint pain that worsens with use; jt enlargement; involvement of the DIP + PIP jts with MCP sparing OA
Often associated with Polymyalgia rheumatica Giant Cell Arteritis
Wide-spread skin thickening and rapid progression to fibrosis of visceral organs (GI, heart, kidneys, skeletal muscle and lungs) Diffuse Scleroderma
An autosomal dominant disorder that manifests with fragility of the skeletal system due to structural or quantitative defects in collagen type I Osteogenesis Imperfecta
AL Light chain amyloid - derived from plasma cells and contains immunoglobulin light chains
Rare, aggressive neoplasm of the soft tissue Fibrosarcoma
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 Myositis ossificans
Acute onset (hours) of monoarthritis of the first MTP jt - typically at night, accompanied by intense redness, heat and swelling MSU gout
A necrotizing vasculitis most commonly affecting the respiratory and renal systems Wegener's Granulomatosis
Disease progresses rapidly at first, then halts after 1-2 years, alowing for long-term survival Takayasu Arteritis
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 Wegener's Granulomatosis
Severely degenerated joints secondary to loss of innervation to the joint Neuropathic (Charcot) Joints
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
Abnormally high-positioned scapula 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.)
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
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
Necrotizing vasculitis of small and medium sized vessels, typically involves renal and other visceral organs (NO lung involvement) Polyarteritis Nodosa (PAN)
Grade IV Legg-Calve-Perthes Ds Total epiphyseal involvement, diffuse metaphyseal changes, no viable bone posterior, epiphyseal consolidation
COL2A1 Defect in this gene (for type II collagen) is seen in familial cases of osteonecrosis
Most common site for leiomyosarcomas Retroperitoneum or intra-abdominal; other common places include skin and deep soft tissue of extremities (typically associated wtih vv.)
Most common form of systemic vasculitis in adults Giant Cell Arteritis
Increase tryptophan containing foods May help prevent fibromyalgia flares
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)
PAX3- FKHR gene fusion dysregulating m. differentiation Pathogenesis of Rhabdomyosarcoma
Galeazzi Sign 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
3 common LE congenital abnormalities 1)fibular deficiency; 2)tibial deficiency; 3)longitudinal deficiency of the femur
Barlow Test A Test for hip instability with dislocation occurring with flexion, adduction and a posterior force/ push
Ortolani Test A test for hip dysplasia involving abduction and anterior pressure/ pull; "click/ clunk"
ABCDEs of Arthritis Alignment of bones, Bone integrity, Cartilage/ jt space, Deformities, Erosions, Soft Tissue involvement
Acute onset of a symmetrical small joint arthralgia that is self-limiting Viral Arthritis
Fragile bones, blue sclera, and early deafness Ostogenesis imperfecta
Benign bone tumors that produce a dull pain unresponsive to ASA Osteoblastoma
psoriatic arthritis similar to RA, but no RF
assoc with HLA-B27 
Deep, achy pain referred to the paraspinal region that doesn't radiate and worsens on extension of the spine Facet Joint Syndrome
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
Elevated alk.phos level, pain, facial deformities and fractures Seen in Paget's Ds
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
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
Lab studies for Dermatomyositis CPK, Aldolase, LDH, SGOT, SGPT, RF, ANA, Anti-Jo1, Anti-pMi-2,Anti-SRP
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
Acute onset of tender, nodular, erythematous eruption usually found on the extensor aspects of the LEs Erythema nodosum - associated with sarcoidosis
B/L low/ absent longitudinal arch; arch flattens when weight bearing and foot becomes pronated Hypermobile Pes Planus (rigid flat feet indicates a more concerning pathology)
Benign, aggressive tumor containing multinucleated giant cells that look like osteoclasts Giant Cell Tumor - typically involves the knee
4 common UE congenital Limb Abnormalities 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)
Dx of Duchenne's Muscular Dystrophy Serum CK levels, EMG and a bx (Western blot demonstrating decreased dystrophin)
Why distal joints are more affected by gout than proximal ones Temperature - distal jts have a lower temp, so the MSU crystals precipitate out easier there
Reason the nucleus is in the center of the m. in Centronuclear Myopathy Most likely involves a defect in the cytoskeleton of the m. cells, preventing marginalization of the nucleus