Pathology(musculo-skeletal)*

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Major genetic cause of dwarfism: Achondroplasia
-most cases are due to new mutations, although may also be autosomal dominant
HLA-B27: Ankylosing Spondylitis
-fusion of vertebrae as articular cartilage is destroyed
Young boy presenting w/ clumsiness & difficulty walking w/ pseudohypertrophy of calf muscles: Duchenne muscular dystrophy
-X-linked; due to dystrophin def.; increased serum creatine kinase
Small, round, blue, cell tumor of bone in children: Ewing Sarcoma
-reactive periosteal bone layers form an "onion-skin" appearance
Arthritis assoc. w/ monosodium urate crystals in metatarsophalangeal joints(podagra): Gout
-crystal deposits form tophi
Tumor-like formations in bone w/ café au lait spots & precocious puberty: McCune-Albright Synd.
-polyostotic fibrous dysplasia w/ endocrine dysfunction
Dramatically improves w/ anticholinesterase drugs: Myasthenia Gravis
-dse. caused by antiacetylcholine receptor antibodies
Wear-and-tear arthiritis: Osteoarthritis
-eburnation("polished ivory" appearance)is caused by erosion of cartilage & articular bone surfaces
Blue sclerae & multiple childhood fractures: Osteogenesis Imperfecta
-blue sclerae caused by a decrease in collagen content making them translucent
Kyphosis & lordosis in a postmenopausal female: Osteoporosis
-age-related changes & estrogen def. increase bone loss
Most common primary malignancy of bone, frequently occurring in the knee of a male under 20years old: Osteosarcoma
-may see Codman triangle on X-ray as tumor lifts the periosteum; often assoc. w/ familial retinoblastoma
Headache, enlargement of the head, visual disturbances, & deafness: Paget disease of bone(osteitis deformans)
-histologically charact. as a mosaic pattern of bone w/ irregular cement lines
Ulnar deviation of the fingers: Rheumatoid Arthritis
-may also find swan-neck deformity
Patients present w/ morning stiffness w/ symmetric involvement of the proximal interphalangeal joints: Rheumatoid Arthritis
-majority have rheumatoid factor, an autoantibody deirected against the Fc region of IgG, in their serum
Muscle atrophy assoc. w/ muscle denervation;involves both typeI(red) & typeII(white)fibers;demonstrates target fibers(fibers that have a darker central area similar to a bull's eye target): Denervation Atrophy
-after reinnervation,charact. by fiber-type grouping(cluster of typeI fibers adjacent to a cluster of type II fibers)
Muscle atrophy assoc. w/ prolonged immobilization;charact. histologically by angular atrophy,primary of type II fibers: Disuse atrophy
Group of genetically determined, progressive disorders charact. by degeneration of skeletal muscle, wasting,weakness,inc. serum activities of creatine kinase(CK)& other muscle enzymes derived from degenerative muscles;deifferentiated by age of onset,: Muscular Dystrophies
-also charact. by nonspecific degenerative changes on muscle biopsy(findings are helpful in distinguishing dystrophies from abn° 2nd to denervation or from entities charact, by morphologic changes
Most common & severe of muscular dystrophies;affects mostly male children;charact. histologically by random variation in muscle fiber size, necrosis of individual muscle fibers,& replacement of necrotic fibers by fibro fatty tissue;charact. by in: Duchenne Muscular Dystrophy
-caused by a deficiency of dystrophin
Muscular dystrophy beginning w/ weakness in the proximal muscles of the extremities,beginning at 1yr of age & progressing to immobilization,wasting, muscle contracture,& death(early teens) often due to pneumonia caused by weakness of resp. muscle: Duchenne Muscular Dystrophy
-charact. later by compensatory hypertrophy of distal sites(calf muscles)followed by pseudohypertrophy(incr. fibrous tissue & adipose tissue)
Muscular dystrophy caused by an abn° in dystrophin due to segmental deletions w/in the gene that do not cause a coding frameshift;similar to,but less severe than Duchenne muscular dystrophy: Becker Muscular Dystrophy
Non-neoplastic dse. of bone charact. by greatly inc. density of the skeleton due to failure of osteoclastic activity;assoc. w/ multiple fractures (spite of inc. bone density),anemia(dec. marrow space),deafness,& cranial nerve involvement(narrowing &a: Osteopetrosis(marble bone dse.,Albers-Schönberg dse.)
-2 major clinical forms:autosomal recessive(fatal in infacy)& autosomal dominant(less severe)
Muscular dystrophy charact. by weakness assoc. w/ myotonia(inability to relax muscles once contracted),catarcts, testicular atrophy & baldness due to an inc. # of trinucleotide repeats(# of repeats inc. w/ each generation.): Myotonic Dystrophy
-autosomal dominant
Muscular dystrophy assoc. w/ a slowly progressive,nondisabling course & an almost normal life expectancy;involves the muscle of the face,scapular area,& humerus;autosomal dominant: Facioscapulohumeral Muscular Dystrophy
Muscular dystrophy involving the proximal muscles of the shoulder,pelvic girdle, or both;autosomal recessive: Limb-girdle Dystrophy
Congenital myopathy charact. by muscle weakness & hypotonia~later to become ambulatory;demonstrates loss of mitochondria & other organelles in the central portion of type I muscle fibers: Central Core Dse.
Congenital Myopathy w/c varies clinically from mild nonprogressive dse. to severe weakness ending in death from resp. failure;demonstrates tangles of small rod-shaped granules predominantly in type I fibers: Nemaline Myopathy
Congenital myopathy charact. by a ragged appearance of muscle fibers & by various mitochondrial enzyme or coenzyme defects(ex.Kearns-Sayre synd. is charact. by ophthalmoplegia, pigmentary retinopathy,heart block, cerebellar ataxia,& an exclusivel: Mitochondrial Myopathies
-demonstrates non-Medelian inheritance; mediated by maternally transmitted mitochondrial DNA abn°(most often deletions)
Non-neoplastic dse. of bone charact. by replacement of portions of bone w/ fibrous tissue;unknown etiology;3 main types(Monostotic fibrous dysplasia, Polyostotic fibrous dysplasia,McCune-Albright Synd): Fibrous Dysplasia
-Monostotic(asymptomatic solitary lesions~spontaneous fractures w/ pain, swelling,& deformity),Polyostotic(multiple lesions assoc. w/ severe deformity),McCune-Albright(polyostotic fibrous dysplasia,precocious puberty, café-au-lait spots on skin,short stature occurring in very young girls)
Fibrous dysplasia presenting w/ polyostotic fibrous dysplasia, precocious puberty,café-au-lait spots on skin,& short stature,occurring in very young girls: McCune-Albright Synd.
Non-neoplastic dse. of the bone often of unknown etiology;may result from interruption of art. bld. supply(trauma,embolism of diverse types such as thrombosis,"the bends,sickle cell anemia)~infarction: Aseptic(avascular)necrosis
-involves head of the femur(Legg-Calvé-Perthes dse.),tibia tubercle(Osgood-Schlatter dse.),navicular bone(Köhler bone dse.)
Non-neoplastic dse. of bone charact. by multiple fractures occuring w/ minimal trauma(brittle bone dse.) due to a grp. of specific gene mutations~defective collagen synthesis~generalized connective tissue abn°in the teeth, skin,eyes,& bones: Osteogenesis Imperfecta
-presents w/ blue sclerae(translucency of thin connective tissue overlying the choroid)
Paraneoplastic disorder(commonly assoc. w/ small cell carcinoma of the lung)w/ clinical manifestations similar to myasthenia gravis;may be due to a defect in the release of acetylcholine by nerve cells or acquired autoantibodies that react w/ presynaptic: Lambert-Eaton Synd.
Dse. of the bone charact. by osteopenia(diffuse radiolucency of the bone)or alterations in serum calcium, phosphorus,& alkaline phosphate: Metabolic Bone Dse.
-ex.(Osteoporosis,von Recklinghausen dse. of the bone-osteitis fibrosa cystica,Osteomalacia,Rickets,Paget dse. of the bone-osteitis deformans)
Metabolic bone dse. charact. by dec. in bone mass due to impaired synthesis or inc. resorption of bone matrix protein. resulting in inadequate weight bearing~ fractures(compression fracture of the vert.)~kyphosis,shortenened stature: Osteoporosis
-charact. radiographically by diffuse radiolucency of bone
Metabolic bone dse. clinically assoc. w/ postmenopausal state(due to estrogen def.),physical inactivity, hypercorticism,hyperthyroidism,& calcium def.: Osteoporosis
-blood chemistry:normal calcium & phosphorus,normal or dec. alkaline phosphatase
Metabolic bone dse. due to primary or 2nd hyperparathyroidism charact. by widespread osteolytic lesions;manifest as "brown tumor" of bone(cystic spaces that are lined by multinucleated osteoclasts filled w/ vascular fibrous stroma due to hemmor: von Recklinghausen dse. of bone(osteitis fibrosa cystica)
-blood chemisty:inc. calc.,dec. phosphorus,inc. Alkaline Phosphatase
Metabolic bone dse. caused by vit. D def. in adults charact. by defective calcification of osteoid matrix & radiographically by diffuse radiolucency,w/c can mimic osteoporosis: Osteomalacia
-when 2nd to renal dse. is called renal osteodystrophy
Metabolic bone dse. due to vit.D def. in children;charact. by dec. calcification & excess accumulation for osteoid~inc. thickness of the epiphyseal growth plates & other skeletal deformaties: Rickets
Metabolic bone dse. manifested clinically by craniotabes(thinning & softening of occipital & parietal bones),late closing of fontanelles, Rachitic rosary(thickening of costochondral junct.~string-of-beads-like appearance),Harrison groove(depressi: Rickets
Common metabolic bone dse. of the elderly of unknown etiology(may be viral in origin)charact. by abn° bone architecture caused by increases in both osteoblastic & osteoclastic activity;often involves the spine, pelvis,calvarium of the skull,femur,&a: Paget Dse. of bone(osteitis deformans)
-blood chemistry:marked inc. in serum alkaline phosphatase,normal serum calcium & phosphorus
Morphologic phases of Paget dse. of the bone(osteitis deformans): Osteolytic phase(predominant osteoclastic resorption),Mixed osteoblastic & osteolytic phase(new bone form.~mosaic pattern),Late phase(inc. bone density;thick trabeculae; prominent mosaic pattern)
Bone pain resulting in fractures,high-output cardiac failure(due to multiple functional arteriovenous shunts w/in vascular lesions),hearing loss(due to narrowing of auditory foramen or involvement of bones of middle ear),& osteosarcoma(often affects: Paget Dse. of bone(osteitis deformans)
Most frequently occuring malignant tumors of bone: Osteosarcoma,Chondrosarcoma,Ewing sarcoma;this excludes metastatic carcinoma & multiple myeloma,w/c are more common than primary bone tumors
Acute pyogenic infxn. of bone involving the metaphysis,distal end of the femur, proximal end of the tibia,& proximal end of the humerus resulting in ischemic necrosis of bone & marrow due to compress vasculature w/ pyogenic exudate & subperio: Pyogenic Osteomyelitis
-necrotic bone(sequestrum) acts as a foreign body & locus for persistent infxn.;new bone form.(involucrum)may surround the infected necrotic area;may be localized by a surrounding wall of granulation tissue(brodie abscess)
Most common cause of pyogenic osteomylitis in children: Occurs most often as a result of bld.-borne spread from as infxn. located elsewhere(Staph.aureus-most common,grp. B B-strep,E.coli)
-in adults(complication of compound fracture or surgery)
Neoplastic bone dse. charact. by osteomylitis in the vert.(Pott dse), hip,long bones(especially the femur & tibia),bones of the hands & feet: Tuberculous Osteomylitis
-2nd to tuberculous infxn. located elsewhere
Group of disorders charact. by proliferation of histiocytic cells(resemble the Langerhans cells of the epidermis;Birbeck granules,tennis racket shaped cytoplasmic structures, are charact. markers of these cells): Histiocytosis X
-can occur in various sites,including bone;distinctive surface antigens also charact. these Langerhans-like cells
Aggressive fatal disorder of infants & small children charact. by hepatospenomegaly,lymphadenopathy, pancytopenia,pulmonary involvement & recurrent infxn. as a result of widespread histiocytic proliferation: Letterer-Siwe dse(acute disseminated Langerhans cell hystiocytosis)
Neoplastic bone dse. charact by histiocytic proliferation mixed w/ inflammatory cells in bone(skull), liver,spleen,etc.;classic triad(skull lesions,diabetes insipidus,exopthalmus due to involvement of the orbit): Hand-Schüller-Christian dse(chronic progressive histiocytosis)
-better prognosis than Letterer-Siwe dse.;presents before 5years of age
Most frequently occurring benign tumors of the bone: Osteochondroma & Giant Cell Tumor
Most common benign bone tumor occurring in men <25 years covered by a cap of cartilage projecting from the surface of a bone;originating from the metaphysis of long bones,w/ the lower end of the femur or the upper end of the tibia;rarely undergoes tra: Osteochondroma(exostosis)
-may be a hamartoma rather than a true neoplasm
Benign bone tumor charact. by oval or spindle-shaped cells intermingled w/ numerous multinuclear giant cells;occurs often on the epiphyseal end of long bones(>50% in the knee);"soap bubble" appearance on radiograph;locally aggressive tumor t: Giant Cell Tumor
-peak incidence 20-40yrs;more common in women than in men
Most common primary malignant tumor of bone(peak incidence in males 10-20yrs)that occurs in the metaphysis of long bones(proximal portion of tibia & distal portion of femur,about the knee): Osteosarcoma(osteogenic sarcoma)
Malignant tumor of the bone clinically manifesting pain & swelling & occasionally pathologic fracture,2-3 fold inc. of serum alkaline phosphatase,radiologic appearance known as "Codman triangle" & "sunburst" pattern of gro: Osteosarcoma(osteogenic sarcoma)
-most common primary malignant tumor of bone
Predisposing factors of osteosarcoma: Paget dse. of bone,fibrous dysplasia, chondroma,osteochondroma,ionizing radiation,bone infarcts,familial retinoblastoma(surgical cure of the primary ocular tumor is often followed by development of osteosarcoma due to loss of Rb suppressor gene locus on chromosome 13)
Malignant cartilaginous tumor(peak incidence in men 30-60yrs)w/c may arise as a primary tumor or from transformation of pre-existing cartilagenous tumors(multiple familial osteochondromatosis,multiple enchondromatosis): Chondrosarcoma
-sites of origin(pelvis,spine,scapula, proximal humerus,proximal femur,femur or tibia near the knee)
Extremely anaplastic"small blue cell" malignant tumor w/ morphologic resemblance to malignant lymphoma w/c often occurs in long bones,ribs,pelvis, & scapula;peak incidence in boys <15yrs;extremely malignant w/ early metastases;responds t: Ewing Sarcoma
Malignant tumor of the bone w/c mimics acute osteomyelitis in its early stage & is charact. by 11;22 chromosomal translocation identical to that found in peripheral neuroectodermal tumor & olfactory neuroblastoma: Ewing Sarcoma
Chronic inflammatory disorder w/c primarily affects the synovial joints; common in women 20-50yrs;of autoimmune origin;charact. by presence of serum rheumatoid factor(immunoglobulin,IgM,w/ anti-IgG Fc specificity);occurs often in HLA-DR4-positive individ: Rheumatoid Arthritis
Type of arthritis w/ episodic changes of fatigue,anorexia,weight loss,fever, myalgia,swelling of the joints & stiffness(especially in the a.m. or after inactivity),polyarticular & symmetric joint involvement: Rheumatoid Arthritis
Joint dse. manifesting early as an acute inflammatory rxn. w/ edema & infl. infiltrate(1st neutrophil~ lymphocyte,plasma cells)~hyperplasia, hypertrophy of the synovial lining~ granulation tissue(pannus)extends over articular cartilage~erosion &: Rheumatoid Arthritis
-subcutaneous rheumatoid nodules develop in approximately 1/3 of px.
Type of arthritis w/c manifest chronic joint changes in the proximal interphalangeal(PIP)& metacarpophalangeal joints of the hands w/ ulnar deviation of fingers(due to synovitis of ligaments);minimal deviation of the wrist may occur: Rheumatoid Arthritis
-manifest most charact. by synovitis
Infective arthritis due to infxn. by spirochete Borrelia burgdorferi via Ixodes dammini(tick);charact. skin lesion(erythema chronicum migrans)w/ prominent erythematous margins & central fading(bull-eye lesion);leads to polyarticular arthritis(involve: Lyme Dse.
-diagnosed by demonstration of IgM serum antibodies to B.burgdorferi; responds well if treated early w/ antibiotics
Joint dse. charact. by a small cystic nodule arising in the tendon sheath or the joint capsule of the wrist due to a myxoid degeneration of connective tissue: Ganglion Cyst
Malignant tumor of skeletal muscle(may arise in other soft tissue);most common soft tissue sarcoma of children;has many variants(pleomorphic rhabdomyosarcoma,embryonal rhabdomyosarcoma & alveolar rhabdomyosarcoma): Rhabdomyosarcoma
Highly malignant soft tissue tumor often originating in tissue adjacent to a joint rather than in a joint cavity; common in the lower extremities; charact. by biphasic growth pattern in w/c both epithelial & spindle cells are seen: Synovial Sarcoma
Benign tumor consisting of a mixture of fibroblast & histiocytes: Fibrous Histiocytoma
Most common soft tissue sarcoma of late middle & old age: Malignant fibrous histiocytoma
Malignant tumor of fibroblast charact. by spindle-shaped cells demonstrating a herringbone pattern: Fibrosarcoma
Most common soft tissue tumor;benign tumor of mature adipose tissue: Lipoma
Malignant tumor of adipose tissue: Liposarcoma
Extra-articular manifestations of rheumatoid arthritis: Pleural & pericardial effusions,anemia of chronic dse.,vasculitis, lymphadenopathy,pulmonary involvement, neurologic abn°,& secondary reactive amyloidosis
Variants of rheumatoid arthritis: Sjögren synd. w/ rheumatoid arthritis; Felts synd.(splenomegaly,neutropenia, rheumatoid arthritis);Still Dse.(juvenile rheumatoid arthritis)w/ generalized lymphadenopathy, hepatospenomegaly,fever
Seronegative arthritis assoc. w/ HLA-B27(up to 90% of px.)w/c affects the spine & sacroiliac joints w/c leads to rigidity & fixation of the spine due to bone fusion(ankylosis): Ankylosing Spondylitis
Seronegative arthritis presenting w/ urethritis,conjunctivitis,& arthritis; assoc. w/ veneral or intestinal infxn.: Reiter Synd.
Type of arthritis showing absence of rheumatoid factor,extremely high incidence in HLA-B27-positive indivduals,peripheral arthritis,& sacroiliitis: Seronegative arthritis(spondyloarthropathies)
-types(ankylosing spondylitis,Reiter synd.,Psoriatic arthritis,& arthritis assoc. w/ inflam. bowel dse.)
Arthritis of metabolic origin charact. by deposition of urate crystals in joints due to hyperuricemia~extremely painful acute arthritis & bursitis often affecting the metatarsophalangeal joint of the big toe(podagra): Gout
-precipitated by a large meal or alcohol intake,both of w/c may inc. hyperuricemia
Arthritis of metabolic origin w/c leads to form. of nodular tophi(located about joints,helix & antihelix of the ear, Achilles tendon,etc.);leads to urate nephropathy(interstitial deposition of urate crystals & obstruction of collecting tubules by: Gout
-diagnosed by findings of hyperuricemia along w/ urate crystals & neutrophils in synovial fluid
Most common form of gout affecting mostly middle-age men charact. by hyperuricemia w/o evident cause & no single demonstrable enzyme defect;has familial predisposition: Primary Gout
Gout charact. by hyperuricemia w/ evident cause(leukemia,multiple myeloma,myeloproliferative synd.,dec. urate exretion due to chronic renal dse.,intake of drugs,Lesch-Nyhan synd.): Secondary Gout
Arthritis of metabolic origin caused by calcium pyrophosphate dihydrate crytal deposition,w/c elicits an inflammatory rxn. in cartilage: Chondrocalcinosis(pseudogout)
-clinically resembles gout
Most common form of bact. arthritis charact. by purulent synovial fluid, monoarticular often involving the knee, wrist,& small joints of the hand: Gonococcal Arthritis

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