Mm/Nn/Bone Buzzin Flashcards
anti-mi2 abs
dermatomyositis
perifascicular atrophy
myofiber atrophy at edges of fascicles = dermatomyositis
campylobacter infection
GB
ascending paralysis/areflexia and infection
GB
onion bulb neuorpathy
chronic inflammatory demyelinating polyneuropathy
sexual dysfunction, tingling hands
DM
distal symmetric neuropathy, renal failure
uremic neuropathy
foot looks like its in a high heel
CMT - inherited peripheral neuropathy - mm. atrophy, sensory loss, foot deformities
painless weakness, thymom
MG
extremity weakness, neuroendocrine carcinoma
LEMS
mm. effect from corticosteroids
type II atrophy
heliotrope rash
dermatomyositis - proximal mm. weakness first - perifascicular atrophy
proximal mm. weakness first?
think dermatomyositis or polymyositis
endomysial inflamm. cells in mm?
polymyositis
quad weakness, age 70
inclusion body myositis
drug given for high cholesterol
= statin
- worry about myopathy!!!
dystrophin gene
completely gone in duchene
reduced in becker’s muscular dystrophy
on x chromosome
walking delayed
see atrophic myofibers, variation in mm. size, fatty replacement!!!
sustained mm. contractions
myotonic dystrophy - skeletal mm. weakness, cataracts, endocrinopathy, cardiomyopathy
CTG triplet repeats
glucose accum. in mm. cells
mcArdles disease - glycogen storage disease
ragged red fibers
mitochondrial myopathies
schwanomma
loss of merlin gene
cause sx by local compression: CPA –> problems with eigth nerve = acoustic neuroma
neurofibroma
have schwannoma (perineural) components but also fibroblasts, mast cells and spindle cells
superficial cutaneous = pedunculated
diffuse neurofibromas = plaque like
MPNST
malignant peripheral nerve sheath tumor - 1/2 arise in NF1 pts. d/t transformation of plexiform neurofibroma
HOXD13
brachydactylyl - short boroad terminal phalanges of first digits
FGFR3 mutation
achondrolplasia = short stature, short limbs, frontal bossing
COL1A1 mutation
osteogeneisis imperfecta –> bone fragility
“brittle bone disease” problem w/ type 1 collagen
poor teeth, blue sclera, fractures
marble bone diseease
prob. w/ metabolic pathway –> bad fn. in osteoclasts = oste0petrosis
chalky bones w/ earl myer flask shape
see anemia, thrombocytopenia, leukopenia
d/t CA2 mutation = no carbonic anydrase = inability for osteoclasts to produce acidic environment
osteopenia
idiopathic, postmenopause, hypothyroid overtreatment (too much T4)
cement lines
paget disease = overworking osteoclasts, osteoblasts can’t keep up
see mosaic pattern of lamellar bone = “cement lines”
pain in affected bone, d/t microfractures, increased heat
“saber bone”
increased risk of sarcoma
rosary, no vit D
rickets in kids, osteomalacia in adults
dissecting osteitis
hyperPTH - “brown tumor”
most commonly PTH adenoma
chronic renal failure
- uremic neuropathy = distal, symm. neuropathy
2. renal osteodystrophy = d/t acidosis –> osteopenia ; no vit D –> osteomalacia
too much corticosteroids?
- type II mm. atrophy
- avascular necrosis/ osteonecrosis
- w/ avascular necrosis see saponification and the head of the femur looks yellow
cause of osteomyelitis
** systemic sx **
staph aureus in cases where organism can be isolated ; another less common cause is TB (pott disease)
sequestrum = inflamm. –> dead bone
involcrum = osteoblasts surround infected bone, wall it off
most common bone malignances?
i. Mets
ii. Multiple Myeloma
iii. osteosarcoma – younger than 25
iv. chondrosarcoma – older than 40
v. Ewing sarcoma
most tumors arise from metaphysis (Giant cells from epiphysis, Ewing sarcoma from diaphysis)
tumor in epiphysis?
giant cell tumor
tumor in diaphysis?
ewing sarcoma
osteoblastomas
osteoid osteoma = tumor in the heel, 2 cm
- can become large, not much relief from NSAIDs
- seen in spine
Morphology:
• round-to-oval masses of hemorrhagic gritty tan tissue
• well circumscribed and composed of randomly interconnecting trabeculae
• benign cytologic features
osteosarcoma
most common primary bone malig.
younger than 20 years
metaphysis, knee - or other larger bones
painful
“codman triangle”
spread to lungs!!!!!!!
older person, central pelvic lesion
chondrosarcoma
sessile stalk growing out of bone
osteochondroma - bone follows the mm. line, resected and have bone covered w/ cartilage
almost always benign
chondromas
benign tumors of hyaline cartilage that usually occur in bones of enchondral origin.
enchondromas = arise within the medullary cavity (seen on right)
- most common of the intraosseous cartilage tumors and are usually diagnosed in individuals 20 to 50 years of age.
- Typically, they appear as solitary metaphyseal lesions of tubular bones of the hands and feet.
juxtacortical chondromas = surface of bone
- The radiographic features consist of circumscribed lucencies with central irregular calcifications, a sclerotic rim and an intact cortex.
well circumscribed!
mafuccii syndrome: lots of endchondromas
endosteal scalloping
chondrosarcoma - 40 years +
- see cartilage malignant tumors - calcified matrix with flocculent densities
“scalloping with flocculent densities”
axial skeleton
grade 3 –> spread to lungs
child w/ swollen leg
ewing sarcoma - small round blue cell tumor in “rosetic balls”
“onion skinning”
diaphysis of long bones
often have systemic findings as well!
onion skinning/starburst pattern - stain shows its rich in glycogen
soap bubble
giant cell tumor - epiphyseal location
fluid fluid levels on CT
aneurysmal bone cyst - metaphysis of long bones
fibroblasts in pinwheel formation
Fibrous Cortical Defect and Nonossifying Fibroma (same tumor):
• Fibrous cortical defects (also known as metaphyseal fibrous defects) are extremely common, present in 30% to 50% of children older than 2 years.
• The vast majority arise eccentrically in the metaphysis of the distal femur and proximal tibia, and almost half are bilateral or multiple.
• Fibrous cortical defect: most common, they are small, about 0.5 cm in diameter.
• Nonossifying fibroma: Those that grow to 5 or 6 cm in size; these are usually not detected until adolescence or adulthood
asymptomatic, biopsy rarely necessary
ground glass stopper appearance in bone
chinese character pattern = fibrous dysplasia thats intramedullary and well circumscribed
localized develop. arrest - see hazy on xray
monostotic fibrous dysplasia: boys and girls, femur, tibia, jaw bones, usually stops enlarging and cured by curettage
polyostotic fibrous dysplasia: seen at younger age, femur, craniofacial involved, results in severe progressive disease and deformities –> sometimes goes to sarcoma rarely
mccune albright syndrome
fibrous dysplasia associated with café-au-lait skin pigmentations and endocrine abnormalities, especially precocious puberty
onion skinning
ewing sarcoma
vs. onion bulbing - chronic inflammatory demyelinating polyneuropathy
pseudohypertrophy
muscular dystrophy/ Becker/Duchenne = enlargement of the lower leg
note: duchenne is more common that Becker’s
rash around the eyes - violet rash
= dermatomyositis - proximal mm. weakness
perfifascicular inflammation
gottron’s papules
- can lead to interstitial lung disease or cardiac failure
seum protein gamma spike
think multiple myeloma - bence jones proteins in urine, lytic lesions in the back, bone marrow biopsy shows “clock faced nuclei”
osteoarthritis
problem of repair, seen in late 50’s, insiduous
articular cartilage looks rough, bony spur, subchondral cysts, subchondral sclerosis, osteophyte, thinned cartilage
affects hips, knees, large joints first
rheumatoid arthritis
clinical course: slowly insidious malaise, fatigue, MSK pain, smmetric involvement of small joints
inflammation, pannus, fibrous/bony ankylosis, eroding cartilage
AI disorder of CD4 T helper cells - TNF plays major role!!!
symmetric arthritis of small joints in hands and feet: large PIPs, ulnar deviated fingers
looks red and ragged - turbid synovial fluid
its a systemic disease: have skin granulomas (nodule on elbow) and developing vasculitis
high RF = high chance of vasculitis
CCP test = screening for RA
HLA-DRB1
RA
** NOTE: TNF plays a major role and antagonists of TNF are central to tx!
ANA +
think juvenile idiopathic arthritis OR SLE
- in JIA - see systemic disease,
maffucci syndrome
multiple enchondromas - hyaline cartilage thats benign w/in the finger joints
also worry about ollier disease
chinese characters
fibrous dysplasia - see ground glass appearance - see fibrous tissue w/in the bone
t 11;22
think PNET - Ewing sarcoma
HLA-B27
think seronegative spondyloarthropathies - involve SI joint - absence of rheumatoid factor
- ankylosing spondylitis
- reactive arthritis (reiter syndrome)
SI joint fushion
ankylosing spondylitis - HLAB27 - bamboo spine - destruction of articular cartilage, starts at SI joints
conjunctivitis
think reactive arthritis - reiter syndrome
HLAB27
arthritis in PIPs, and dips
conjunctivitis, urethritis, arthritis
think chalmydia, shiella, salmonella, campylobater — assoc. w/ GB
CD
enteritis associated arthritis
yersinia, salmonelal, shigella, campylobacter
arthritis involves knes and ankles
pencil cup deformity
psoriatic arthritis - see psoriasis over the wrists - DIPs are first to be affected symmetrically
fever and painful swollen joint
infectious/suppurative arthritis
- see leukocytosis and elevated sed rate
- joint aspiration is purulent
- think staph aureus in adults (or gonorrhea)
- salmonella (SS disease), or pneumococcal in kids
erythema multiforme
lyme arthritis - borrelia burgdorferi
arthritis of large joints that migrates
gout
acute arthritis d/t monosodium urate (MSU) — always see elevated plasma urate levels!!!
- see overproduction in leukemia, with very elevated levels
- see normal levels in CKD, with decreased uric acid excretion
YIPA
think alcohol, older, obese, metabolic syndrome
defined x-linked HGPRT
psuedogout
less symptomatic - see calcium pyrophosphate dehydrate
** older than 50 years, can be confused w/ osteoarthritis
- rhomboid dimension - effects knes, wrists, elbows, shoulders, ankles
seronegative spondyloarthropathies
involve SI and vertebral joints - often assoc. w/ HLAB-27
- ankylosing spondylitis = bamboo spine, HLA b27
- Reactive arthritis = chlamydia
- enteritis arthritis = GB
- psoriatic arthritis = psoriasis on wrist
fluctuant cyst on the wrist
ganglion/synovial cyst - small cyst lacking a cell lining near joint capsule/tendon sheath
synovial cyst = herniation of synovium through a joint capsule
baker cyst = synovial cyst in popliteal fossa, with RA
tiger striping finger like projectons
tenosynovial giant cell tumor
- benign neoplasm of joint
- diffuse type - see tiger striping - larger joints
- localized type - see discrete nodule
tx: M-CSF antagonist
pinwheel swirling pattern
= undifferentiated pleomorphic sarcoma = malignant fibrous histiocytoma
***** most often seen tumor in older patient in deep thigh - presents w/ nodule or pain
TUMOR CELLS LACK DIFFERENTIATION ALONG NORMAL LINES!!
gray white fleshy mass, shows pinwheel formation and things that looks like weird giant cells.
herring bone
fibrosarcoma tumor
- 52 y/o man, poweterior arm
large, ugly, gray
biphasic appearance
synovial sarcoma - occurs usually around knee w/ dystrophic calcification and spindle cells
kiss of death. 25% survival
soft, mobile painful tumor on triceps
lipoma = benign fat tumor
27 y/o w/ mass in thing, below fascial plane, shows lipids
liposarcoma
hx of trauma, young adult, upper extremity
nodular fasciitis - go along anterior fascial plane - circumscribed, benign
dupuytren contracture
superficial fibromatosis = nodular thickening of palmar fascia
on biopsy see lots of fibroblasts
large infiltrative mass, in 20 y/o woman, circumscribed, along fascial plane
deep fibromatosis - desmoid tumor - infiltrate but DONT metastastasize
gray, white, rubbery, histology has lots of collagen
tumor in child coming out of orifice/mucosal surface
rhabdomyosarcoma = malignant mesenchymal tumor
- alveolar
- embryonal - small round blue cells = sarcoma bortyroides (vagina)
adult form = pleomorphic rhabdomyosarcoma - always bad!!!
benign, fatty tumor in uterus
leiomyoma = smooth mm. tumor
+actin/desmin stain
leimoyosarcoma = deep soft tissues, retroperitoneal tumor
painless firm mass
mets to lungs
