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