Term
|
Definition
localized problems in migration or formation of bone |
|
|
Term
|
Definition
global skeletal abnormalities secondary to mutation of genes involved in regulation of skeletal development or structure |
|
|
Term
|
Definition
point mutation of FGFR3 80% are new AD mutations |
|
|
Term
|
Definition
lethal due to small thorax disorganized growth plate |
|
|
Term
|
Definition
defects in COL1 synthesis - too little bone, fragile skeleton blue sclera, small brown-yellow teeth, hearing impairment |
|
|
Term
|
Definition
diffuse symmetric skeletal sclerosis due to impaired osteoclast function fractures, CN defecits, anemia, infections |
|
|
Term
|
Definition
reduced bone mass and porous bones |
|
|
Term
|
Definition
net gain in bone mass - bone is disorganized and unstable |
|
|
Term
|
Definition
infection of bone - localized or complication of systemic infection no organism in about 1/2 of cases |
|
|
Term
|
Definition
avascular necrosis or aseptic necrosis infarction of bone - subchondral or medullary secondary osteoarthritis complication |
|
|
Term
|
Definition
any bone involved, usually cortical, often in femur or tibia <2 cm nocturnal pain relieved with NSAIDs radioablation curative |
|
|
Term
|
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
|
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
|
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
|
Definition
common in second decade - immature bone predilection of long bone epiphyses-may have giant cells treated by curretage |
|
|
Term
|
Definition
later in adulthood - 5-7th decade often in pelvic girdle, ribs, knees grade is important |
|
|
Term
|
Definition
benign but locally aggressive ends of long bones pain, swelling, fracture surgical treatment, recurrence |
|
|
Term
|
Definition
normal medulla replaced by abnormal fibro-osseous tissue - benign neoplasm craniofacial, long bones, ribs - usually monostotic "coast of Maine" |
|
|
Term
|
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
|
Definition
most common soft tissue tumor encapsulated, mature adipose tissue |
|
|
Term
|
Definition
benign fibroblastic neoplasm superficial or deep (desmoid) |
|
|
Term
|
Definition
wide site distriburion, affecting smooth muscle 3/4 of women have uterine "fibroids" |
|
|
Term
|
Definition
benign peripheral nerve sheath tumor usually cutaneous, solitary multiple, plexiform - consider NF1 |
|
|
Term
|
Definition
benign peripheral nerve sheath tumor usually solitary bilarteral tumors of vestibular division of CN VIII - diagnostic of NF2 |
|
|
Term
|
Definition
most common soft tissue sarcoma usually in adults most commonly well differentiated - resemble lipomas |
|
|
Term
|
Definition
affects smooth muscle skin, deep soft tissue, GI tract, GU tract |
|
|
Term
|
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 |
|
|