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Path of Bones, Joints, and Soft Tissue
McHugh
32
Medical
Graduate
12/15/2012

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Cards

Term
Dysostoses
Definition
localized problems in migration or formation of bone
Term
Dysplasias
Definition
global skeletal abnormalities secondary to mutation of genes involved in regulation of skeletal development or structure
Term
Achondroplasia
Definition
point mutation of FGFR3
80% are new AD mutations
Term
Thanatrophoric Dwarfism
Definition
lethal due to small thorax
disorganized growth plate
Term
Osteogenesis imperfecta
Definition
defects in COL1 synthesis - too little bone, fragile skeleton
blue sclera, small brown-yellow teeth, hearing impairment
Term
Osteopetrosis
Definition
diffuse symmetric skeletal sclerosis due to impaired osteoclast function
fractures, CN defecits, anemia, infections
Term
Osteoporosis
Definition
reduced bone mass and porous bones
Term
Paget disease
Definition
net gain in bone mass - bone is disorganized and unstable
Term
Osteomyelitis
Definition
infection of bone - localized or complication of systemic infection
no organism in about 1/2 of cases
Term
Osteonecrosis
Definition
avascular necrosis or aseptic necrosis
infarction of bone - subchondral or medullary
secondary osteoarthritis complication
Term
Osteoid osteoma
Definition
any bone involved, usually cortical, often in femur or tibia
<2 cm
nocturnal pain relieved with NSAIDs
radioablation curative
Term
Osteoblastoma
Definition
any bone involved, usually medullary, often in post spine and sacrum
>2 cm
painful, NOT relieved with NSAIDs
curettage or excision, low recurrence
Term
Osteosarcoma
Definition
most common primary malignancy of bone
pain +/- palpable mass most common presentation
chemotherapy and limb-salvage surgery
mets most often to lung and bone
90% metaphysis - does not usually grow past growth plate
Term
Osteochondroma ("exostosis")
Definition
most common bone tumor - like an ectopic growth plate
palpable mass or asymptomatic
excision curative - rarely progress to chondrosarcoma
Term
Enchondroma
Definition
like an ectopic growth plate in middle of bone
often involve hands/feet
usually asymptomatic, perhaps pain in digits
observation and curretage - rarely progress to chondrosarcoma
Term
Chondroblastoma
Definition
common in second decade - immature bone
predilection of long bone epiphyses-may have giant cells
treated by curretage
Term
Chondrosarcoma
Definition
later in adulthood - 5-7th decade
often in pelvic girdle, ribs, knees
grade is important
Term
Giant cell tumor
Definition
benign but locally aggressive
ends of long bones
pain, swelling, fracture
surgical treatment, recurrence
Term
Fibrous dysplasia
Definition
normal medulla replaced by abnormal fibro-osseous tissue - benign neoplasm
craniofacial, long bones, ribs - usually monostotic
"coast of Maine"
Term
Ewing sarcoma / PNET
Definition
malignant "small round blue cell" sarcoma
most common in children
at diaphysis of long bones - pelvis, ribes
chemo and surgery
Term
Metastatic carcinoma to bone
Definition
more common than primary bone tumors
multifocal
breast, lung, thyroid, kidney, prostate
pain, path fracture, hypercalcemia, marrow replacement (pancytopenia)
Term
Lipoma
Definition
most common soft tissue tumor
encapsulated, mature adipose tissue
Term
Fibromatosis
Definition
benign fibroblastic neoplasm
superficial or deep (desmoid)
Term
Leiomyoma
Definition
wide site distriburion, affecting smooth muscle
3/4 of women have uterine "fibroids"
Term
Neurofibroma
Definition
benign peripheral nerve sheath tumor
usually cutaneous, solitary
multiple, plexiform - consider NF1
Term
Schwannoma
Definition
benign peripheral nerve sheath tumor
usually solitary
bilarteral tumors of vestibular division of CN VIII - diagnostic of NF2
Term
Liposarcoma
Definition
most common soft tissue sarcoma
usually in adults
most commonly well differentiated - resemble lipomas
Term
Leiomyosarcom
Definition
affects smooth muscle
skin, deep soft tissue, GI tract, GU tract
Term
Rhabdomyosarcoma (RMS)
Definition
primitive sarcoma recapitulating embryonic skeletal muscle
most frequent soft tissue sarcoma in children and adolescents
Term
Embryonal rhabdomyosarcoma
Definition
usually children under 10
most often head/neck
Term
Botryoid embryonal rhabdomyosarcoma
Definition
arise beneath mucosal epithelial surface
bladder, biliary, vagina, pharynx, conjunctiva, ear, nose
Term
Alveolar rhabdomyosarcoma
Definition
tends to occur at an older age
extremities more than head/neck or trunk
worse prognosis - treat with chemo
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