Chapter 20 Flashcards
Dysostosis
congenital effects bone •Abnormal mesenchymal migration • Aplasia • Supernumerary digits • Abnormal fusion of bones Klippel-Feil syndrome & Sprengel’s Deformity
Dysplasia
congenital bone & cartilage • Not pre-cancerous • In bone: osteodysplasia • In cartilage: chondrodysplasia • Dwarfism
Osteogenesis Imperfecta (O.I.)
congenital collagen • Aka brittle bone disease • Abnormal collagen: premature breakdown • Mutations of type I collagen: Autosomal dominant • ECM o Blue sclera o Type I: normal lifespan o Type II: lethal in utero
Achondroplasia
congenital cartilage • ↓ cartilage synthesis = ↓ growth plate expansion • Spontaneous: 75% • Autosomal Dominant: 25% • MC form of dwarfism • Thanatophoric dwarfism = fatal
osteopetrosis
congenital bone • ↓ osteoclast-mediated bone resorption • Skeletal sclerosis—↑ fractures (chalk stick) • Foraminal stenosis CN palsies • Medullary cavity fills
osteoporosis
bone females & ↑ age • Most important form of osteopenia • Osteoclast/osteoblast imbalance • MC impacts spongy bone • 1⁰ Senile, PM (MC) 1. Vertebral compression fx 2. Femoral neck fx Xrays DONT diagnose! TX: Estrogen therapy
Paget disease (osteitis deformans)
Bone 70 years old Males Phases: lytic, mixed, sclerotic ‘Shaggy’ xray & ivory vertebra sign Regional osteoclastic activity Excessive bone formation MC asymptomatic Bone pain (neck & back) MC
Rickets & osteomalacia
Bone
kids = rickets = more severe
adults = osteomalacia
Hypocalcemia –>PTH –> demineralizes bone
Hyperparathyroidism
Bone PM women MC nonmalignant cause of hypercalcemia Cortical & trabecular bone MC because of adenoma ‘Brown tumor’ Renal stones MC
Avascular Necrosis/ osteonecrosis
Bone subchondral areas preserve cortex osteochondritis dissecans MC vascular disruption via fx
Osteomyelitis
Bone marrow inflammation
Acute
Categories: pyogenic bacteria, tuberculosis or mixed
Hematogenous spread
Pyogenic
Osteomyelitis
Bone
Pyogenic bacteria
Overall MC- S. aureus
Tuberculous osteomyelitis
Bone
Skeletal TB
Caseous granulomas
Hematogenous spread MC
Bone Tumors (general)
Matrix & fibrous producing tumors MC
Benign tumors MC
MC develop early (50% at knee
Osteoma: age 40-50, facial bones/skull
osteoma
benign
bone forming tumor
found on head
middle age
osteoid osteoma
benign bone forming tumor nocturnal pain aspirin relieves prox femur Male
osteoblastoma
benign bone forming tumor
unrelieved by aspirin
vertebral
osteosarcoma
Malignant bone forming CA aggressive MC primary bone CA Periosteal & medullary destruction (Codman triangle, sunburst, spiculations) Knee Male young/typical/primary = 10-20 years, long term survival increased risk for retinoblastoma
osteochondroma/exostosis
benign cartilage forming tumor exostoses = cartilage-capped outgrowths increased risk for sarcoma knee males puberty solitary-- adolescence/young adults multiple--genetic, childhood
chondroma/enchondroma
benign cartilage forming tumor solitary or multiple lesions 'o-ring' sign MC asymptomatic Ollier disease: multiple lesions, unilateral tubular bones of hand & feet
chondrosarcoma
malignant cartilage forming tumor less common than osteosarcomas thicken or erode cortex low-grade= MC, thickens cortex, good prognosis high-grade= cortical erosion, mets to lungs, poor prognosis, appears dark on film intramedullary MC large prox joints older males
Fibrous Cortical Defect
Benign fibrous tumor NOT A TRUE NEOPLASM small asymptomatic knee (distal femur) 30-50% of all kids >2 Nonossifying fibroma = larger fibrous cortical defect
fibrous dysplasia
benign
arrested development
monostotic MC
polyostotic = no endocrine, severe deformation, crainofacial involvement
McCune-Albright = coast of Maine, precocious puberty,females
Ewing sarcoma
second MC pediatric bone cancer like PNET undifferentiated femur 10-20 Caucasian males periosteum: onion-skinning, sunburst
primitive neuroectodermal tumor (PNET)
bone cancer neural differentiation like Ewing Sarcoma homer-wright rosettes similar to medulloblastoma but not in CNS periosteum: onion-skinning, sunburst femur 10-20 Caucasian males
Giant Cell Tumor of bone
arthritis like pain
mets to lungs
thin shell of cortex remains
knee
osteoarthritis
MC joint disorder degeneration of articular cartilage subchondral changes are secondary mechanical and genetic causes not always inflammation present worse in morning for a short time Heberden's node at DIP joint NO ankylosis Females: knee & hands males: hips traumatic/deformity --> can occur in kids
Rheumatoid Arthritis
autoimmune inflammatory Anti-CCP antibodies rheumatoid factor Pannus ulnar deviation Ankylosis present symmetric MCP & PIP bouchards nodes females 10-40
juvenile RA
immune-mediated
large joints
<16 years (MC 1-6)
seronegative spondyloarthropathies
NOT +RF
+HLA-B27
P.E.A.R. (psoriatic arthritis, enteropathic arthritis, ankylosing spondylitis, reactive arthritis)
Ankylosing spondylitis
aka marie-strumpell disease morning stiffness > 30 min nocturnal LBP \+HLA-B27 Axial skeleton: gluteal pain referral syndesmophytes: bamboo spine
Gout
abnormal purine metabolism – inc uric acid
Tophus/Tophi
primary = hyperuricemia
secondary = co-morbid or drug exposure
chronic tophaceous arthritis = doesnt resolve, can die of gouty nephropathy
MC hallux = podagra
males
pseudogout
CPPD/CPDD altered pyrophosphate metabolism sporadic pyrophosphate crystal deposition knee, wrist, shoulder >50 years
Suppurative arthritis
bacterial arthritis
knee
N. gonorrhoeae = sexually active females, subacute course, polyarthicular
lyme arthritis
borrelia burgdorferi
migratory joint pain
ganglion
no communication with joint
wrist: joint capsule/tendon sheath
synovial cyst
communicates with joint
baker cyst: popliteal
tenosynovial giant cell tumor
- genetic mutation promotes growth
- diffuse: lg joints=knee, PAIN, finger-like projections
- localized: small joints=hand, MC soft tissue tumor of hand, PAINLESS
- 20-50 years
soft tissue tumors
ANY non-epithelial tissue except: bone, cartilage, CNS, hematopoietic or lymphoid tissue INCLUDES PNS
Benign 100x MC than malignant EXCEPT SKELETAL MS
Soft tissue sarcomas disproportionally aggressive (<1% Dx but 2% of ca-related death)
MC in lower extremities (thigh)
lipoma
MC soft tissue tumor of adults
Liposarcoma
Malignant soft tissue tumor
May mets to LUNGS
Mutation: degradation of p53
Deep soft tissues: retroperitoneum, thigh
Nodular Fasciitis
soft tissue tumor
Reactive fibroblastic mass
Non-neoplastic; self-limited
Volar/palm brachium
Myositis Ossificans
soft tissue tumor Reactive, metaplastic bone Proximal extremity muscles (MC) Adolescent athletes = 2⁰ to trauma DDx: osteosarcoma
Fibromatosis
benign soft tissue tumor Disfiguring, painful, commonly recur 1. Superficial: superficial fascia, deformation Dupuytren contracture, Peyronie disease (MC 40-70 yrs) 2. Deep/desmoid tumors: MC abdominal Aggressive, locally destructive, Gardner syndrome: genetic mutation, multiple deep fibromatoses, intestinal polyposis, osteomas
fibrosarcoma
malignant soft tissue tumor
herringbone pattern of cells
25% mets to lungs
50% recur after excision
deep tissues: thigh, retroperitoneum, knee
originates in soft tissue then invades bone
Rhabdomyosarcoma
malignant skeletal muscle tumor
Rhabdomyoblasts: skeletal muscle precursor
MC pediatric soft tissue sarcoma
Occurs in areas w minimal skeletal ms: Head/neck (MC),
2/3 kids cured
Adults: poor prognosis
Leiomyoma
benign smooth muscle tumor
Found anywhere with smooth ms cells
MC fibroids in Uterus,
Leiomyosarcoma
malignant smooth muscle tumor
‘cigar-shaped nuclei’
Females MC
Found in deep, extremities, retroperitoneum
synovial sarcoma
malignant smooth muscle tumor
knee
aggressive, invasive
What disease are Klippel-Feil syndrome & Sprengel’s Deformity
Associated with?
Dysostosis
