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88 Cards in this Set

  • Front
  • Back
AD, FGF receptor 3 mutation, defect in cell signalling
Achondroplasia
FGF receptor 3 mutation, defect in growth plate, LETHAL
Thanataphoric dwarfism
AD defect in Collagen Type 1 synthesis --> skeletal fragility
Type 1 --> survival, c fractures + blue sclerae
Type 2 --> lethal in utero
Type 3 --> survival, fractures, short stature
Osteogenesis Imperfecta
Reduction in bone mass, progressive microfractures, vertebral collapse, from inc resorption or dec deposition, exercise is tx
Osteoporosis
Bones become heavy, medullary canal obliterated, ends of long bones become "erlenmyer flask deformities" narrowed foramina compresses CN's, tx c bone marrow transplant
Osteopetrosis
Carbonic anhydrase mutation leading to heavy/thick bones, break like chalk
Osteopetrosis
Malignant vs benign osteopetrosis
Malignant - AR, death in early childhood
Benign - AD, discovered after x-ray from repeat fractures
Osteoclast-osteoblast imbalance, ass'd c viral infection, presents c increase in bone density in 1+ bones and shows a jigsaw pattern
Paget's Disease
Pain, furious osteoclastic resorption leading to hectic bone formation and osteosclerosis, high ALK PHOS and tx c calcitonin and bisphosphonates
Paget's Disease
Osteitis Fibrosa Cystica, causes brown tumor from microfracture c hemorrhage, shows dissecting osteitis on micro (osteoclasts tunneling through bone)
Hyper PTH
Deficiency in matrix mineralization, from low Vit D
Rickets/ Osteomalacia
This can lead to secondary hyperparathyroidism, hypocalcemia, increased osteoclast activity, poor mineralization of bone, osteosclerosis, growth retardation, osteoporosis
Renal Osteodystrophy
Inflammation of bone from pyogenic bacteria, leads to inflammatory reaction and bone ischemia / necrosis, usually from S. Aureus
Neonates - meta / epiphysis
Kids - metaphysis
Adults - epiphysis / subchondral
Osteomyelitis
Brodie Abscesses
Osteomyelitis
Severe destruction of vertebrae, extensive necrosis, infection spreads through medullary cavity
Tuberculosis Osteomyelitis
TB infection of the spine
Pott's Disease
Disseminated syphillis that can infect bone
Skeletal Syphillis, can be congenital or acquired
Slow growing benign bone tumor, solitary except in Gardner Syndrome, projects from bone surface in skull/face
Osteoma
Benign bone tumor, <2cm, in bone cortex in lower leg, severe pain occuring at night and RELIEVED by ASA
Osteoid Osteoma
Identical to otseoid osteoma but in the spine
Osteoblastoma
Most common primary bone sarcoma, can create bone matrix, 75% UNDER AGE 20 @ site of greatest bone growth, sunburst pattern, can cause codman's triangle
Osteosarcoma
Common benign bone tumor, solitary in late adolescence + early adulthood, stalk of cartilage with bone behind it, discovered incidentally
Osteochondroma
Osteochondroma that projects the toenail upwards
Subungal Exostosis
Benign tumor of hyaline cartilage, arise intraosseously, usually solitary on the hands/feet, can cause ollier disease or mafuci syndrome
Enchondroma
Unilateral, sporadic deformity of development, large lower forearm bone growth compared to the upper forearm bone growth
Ollier's Disease
Multiple endochondromas on the fingertips, can cause brain + ovary tumors
Maffuci syndrome
Rare benign cartilage tumor that arises directly adjacent to the joint, acts like arthritis, very painful
Chondroblastoma
Rare, benign tumor, @ metaphysis of long bones, eccentric shape, well delineated c sclerotic rim
Chondromyxoid fibroma
Malignant, cartilage producing tumor @ >40yo, causes the silver shiny growth inside bones, may thicken the bone cortex, tumor grade = outlook good/bad
Chondrosarcoma
Small lesions c minimal growth replaced by bone, sharply demarcated and radiolucent, extremely common, at metaphysis at knee
Fibrous Cortical Defect / Non-ossifying fibroma
GNAS mutation in embryo, benign local areas of arrested bone development, causes shepherd hook deformity, ground glass appearance, C's and W's in marrow micro
Fibrous Dysplasia
Only one bone affected in fibrous dysplasia, mutation late in development
Monostotic Fibrous dysplasia
Mutation early in development, multiple bones affected, craniofacial involvement
Polyostotic Fibrous dysplasia
Cafe-au-lait spots, endocrinopathies, precocious puberty common, shows sx in multiple bones and endocrine organs
McCune-Albright Syndrome
Malignant aggressive bone tumor in medullary cavity, @ DIAPHYSIS, t(11:22), shows small round blue cells, painful mass
Ewing's Sarcoma
Benign, but locally aggressive bone tumor, EPIPHYSIS @ knee, 20-40yo, soap bubble lesions, yellow cystic mass
Giant Cell Tumor of Bone
Blood filled cavities in bone, benign tumor, 17p13
Aneurysmal Bone cyst
Progressive degeneration of articular cartilage in only a few joints, male = hips, female = tibio-femoral, patello-femoral, both = DIP's, cervical vertebrae, lumbar vertebrae, 1st MTP's
Osteoarthritis
Joint mice, osteophytes, bone spurs, increased bone density at joint, Heberden's nodes, morning stiffness
Osteoarthritis
Systemic inflammatory disorder involving articular cartilage destruction, joint ankylosis, autoimmune disease, CD4+ T cells activated --> pannus formation --> inflammation and destruction
RA
HLA-DR4, high ESR / CRP, tx c TNF antagonists, methotrexate
RA
Polyarticular and symmetric PIP's, MCP's, wrists, elbows, ankles, knees, feet, insidious onset
RA
Reflects severe rheumatoid disease in high pressure regions / viscera
Rheumatoid nodules
Onset of arthritis symptoms before age 16, HLA-B27+, ANA+, glomerulonephritis, uveitis
Juvenile Idiopathic Arthritis
RF-, HLA-B27+, peripheral arthridities, sacroiliitis, inflammation of tendon/ligament inserts
Seronegative Spondyloarthropathies
Chronic arthritis, cartilage destruction, bamboo spine, sacroiliitis, uveitis, IL-23R, HLA-B27
Ankylosing Spondylitis
Non infective, reactive arthritis, from infection like dysentery, occurs in joints causes sausage digits
Reactive arteritis, Reiter's Syndrome
HLA-CW6, HLA-B27, similar to RA, sausage digits, HAS TO HAVE PSORIATIC SKIN INVOLVEMENT
Psoriatic Arthritis
Monoarticular (knee), purulent synovial fluid, low glucose, >90% PMN's, from Gonorrhea, sudden onset of painful swollen joint, decreased ROM
Suppurative Arthritis
Most common septic arthritis in sexually active females, unilateral knee most common
Gonococcal Arthritis
Cold abscess, chronic progressive monoarticular arthritis in weight bearing joints, can for caseating granulomas
TB Arthritis
Caused by Borrelia Burgdorferi (Ixodes tick), develop weeks-years after initial infection, can develop synovitis and pannus, looks like RA, migratory, can present c erythema chronicum migrans
Lyme Arthritis
Rubella, Parvo B19, Hep C all cause this
Viral Arthritis
Chronic Hyperuricemia, high purine production, low purine salvage, causes urate precipitates to form and microtrophi to form in the synovium and cartilage with trauma releasing the crystals into the joint
Gout
Crystals long and thin and negatively bifringent
Gout
Sx worsen c cold weather, urate crystals in synovial fluid, biopsy c tophaceous deposits
Gout
Rhomboid crystal deposits into joints, asymptomatic or arthritic, inflammatory response initiated, chalky joint deposits
Pseudogout (Calcium pyrophosphate crystal disease)
Synovial fluid transparent, clear, no WBC's/RBC/Glu
Normal
Synovial fluid transparent, <3,000 WBC, <30% PMN, no Glu
Group 1 Non infl
Synovial fluid transparent/opaque, 3000-75000 WBC, >50% PMN, few RBC, low Glu
Group 2 Inflammatory
Synovial fluid Opaque, White, 50k-200k WBC, >90% PMN, 20-100 Glu
Group 3 Infectious
Synovial fluid opaque, xanthochromic/red-brown, 50-10k WBC, <50% PMN, RBC's
Group 4 Hemorrhage
Cyst that appears after repetitive disuse, doesn't communicate with joint space, arises from joint capsule, usually in wrist
Ganglion Cyst
Herniation of synovium through joint capsule
Synovial Cyst
Benign, recurrent neoplasm, usually in the knee, presents as monoarticular arthritis with pain and locking of the joint, aggressive local growth
Pigmented Villonodular Synovitis
Slow growing mass involving the tendon sheath of the wrist/fingers/toes, localized form of villonodular synovitis, most common mesenchymal neoplasm of the hand
Giant Cell Tumor of the Tendon Sheath
S-100
Nerve related, melanoma
Vimentin
Sarcomas
Desmin
Muscle Tumors
Neurofilaments
Neuronal Tumors
Cytokeratins
Carcinomas
Factor 13
Dermatofibroma
Soft, mobile, painless fat tumor that doesn't regress c weight loss
Lipoma
Malignant tumor of fat cells, deep tissue of proximal extremities and retroperitoneum, shows lipoblasts
Liposarcoma
Metaplastic heterotropic growth of bone in muscle tissue following trauma
Myositis Ossificans
Most common superficial fibromatosis, WNT mutation, vibratory machinery use, shows Dupytren's Flexion Contracture
Palmar Superficial Fibromatosis
Penile Fibromatosis, results in dorsal penis curvature
Peyronie's Disease
Large, aggressive, infiltrative masses, may recur, APC INACTIVATION, MUTATED B CATENIN
Deep Fibromatosis
APC gene mutation, FAP, osteoma, desmoid tumors, epidermal inclusion cysts
Gardner Syndrome
Malignant fibrous lesion, SPINDLE SHAPED CELLS HERRINGBONE PATTERN
Fibrosarcoma
Benign mid-dermis lesion, XIIIa dendrocytes, epidermal hyperplasia overlying, in legs of women
Dermatofibroma
Translocation of collagen gene PDGFR, STORIFORM PATTERN, SPIRALING OUTWARD, protrudes slightly from the skin
Dermatofibroma protuberans
Most common soft tissue sarcoma over 40yo, proximal extremities and retroperitoneum
Pleomorphic sarcoma
Sk mm tumor, most common soft tissue cancer, aggressively malignant, DESMIN +, MYOGENIN +
Rhabdomyosarcoma
Embryonal rhabdomyosarcoma, grape like clusters in mucosal tubes
Sarcoma Botryoides
Benign tumor in the uterus c fascicles of spindle cells
Leiomyoma
Desmin+, Actin+, Vimentin+, fascicles of spindle cells, arises in skin/deep tissues/uterus/viscera, seen in the inside of upper arms, MITOSES
Leiomyosarcoma
Highly malignant tumor, arises adjacent to or inside a large joint, t(X:18), SYT-SSX, biphasic growth (gland like formations --> spindle cells
Synovial Sarcoma