Midterm Pathologies PDF

Pathology Morphology Histology signs/symptoms Treatment Achondroplasia Gene: COL2A1 FGF receptor mutation on chromosome 3&4 Autosomal Dom Type II collagen Enlarged skull Foramen magnum stenosis Short long bones FGFr3 kinase inhibitors Heterogeneous Hypo function osteoclasts Irregular bone...

Pathology Morphology Histology signs/symptoms Treatment Achondroplasia Gene: COL2A1 FGF receptor mutation on chromosome 3&4 Autosomal Dom Type II collagen Enlarged skull Foramen magnum stenosis Short long bones FGFr3 kinase inhibitors Heterogeneous Hypo function osteoclasts Irregular bone tissue. Thickened cortex Increased skeletal mass in cortical and spongy bone. ACTimmune (interferon-gamma1b) decreases malignant progression Marble bone disease Malignant(recessive) and benign(dominant) Bone marrow transplant Optic nerve pressure blindness Osteopetrosis Sandwich vertebrae Erlenmeyer Flask Deformity Brittle bones ANtibodies to block FGFR3 ag e s e x Pathogenesis/misc Problem in epiphyseal plate No cartilage proliferation Low ca+ levels Marrow suppression can lead to severe anemia/pancytopenia Ollier’s Disease/ Multiple enchondromato sis Cartilaginous masses usually in hands and metaphysis Paget’s disease/ osteitis deformans excessive resorption Disordered remodelling Benign giant cell tumors (5-10%) Other tumors, sarcoma rare 50% develop into chondro-saccoma Mosaic pattern Typically axial or femur Monostotic: skull/vertebrae Polyostotic: spine + extremities Bones increase in size and weaken Leontiasis(heavy cranium) + orthopenia DX: increased alkaline phosphatase, hydroxyproline and hydroxylysine. TX: calcitonin & bisphosphonates Measles increase risk 3 phases: 1.lytic - pits + marrow sinus dilation 2.mixed: cortex thick, woven lamellar woven pattern develops 3. Osteosclerotic thickened trabeculae Fractures common Hypervascularity Marfan’s Syndrome Fibrillin gene chromosome 15 Autosomal Dom Arachanodactyly Kyphosis Scoliosis Ectopia lentis Cataracts Glaucoma Mitral valve prolapse Cystic median necrosis Pectus excavatum/carinatum Osteogenesis Imperfecta Autosomal dom Mutations in genes for alpha1/2 for collagen-I Collagen Type-I Brittle bones Reduced collagen strength aorta Type I: noram lifespan Type II: fatal in utero Brittle bone disease Thickened cortical bone, reduced trabeculae Affects skeleton, ears, ligaments, teeth, sclerae, and skin Mucopoly saccharidosis Lysosomal storage disease Weakened cartilage: Respiratory issues Short chest wall Acute Osteomyelitis Segmental necrosis of bone Affects long bones fever/chills Lethargy Nausea Mascle spasm Weight loss New reactive bone around necrotic bone: involucrum Chronic Osteomyelitis Bone cavities, sequestrum, and sinuses, necrosis. Can lead to septicemia and metastatic abscesses. Multiple fractures, hearing loss, blue eyes Lack enzymes to break down glycosaminoglycans m >f Common pathogens: staph, flu, strep, salmonella. IV drug users Antibiotic (can be resistant). Sclerosis, deformity, amputation 5-25% of acute patients Bone graft Gram+ culture Increased TLC, DLC, ESR Immobilization ulcers/lesions Tuberculous Osteomyelitis/ Chromic granulomatous or Pott’s disease Destruction of IVD Lymphocyti c infiltrate Caseous necrosis Granulom a formation Multinucle ated giant cells Fever chills weight loss. Painful ROM Common in immunosuppressed By Peter Stadalsky Pathology Morphology Histology signs/symptoms Treatment age sex Pathogenesis/misc Osteoid osteoma Benign Projects from endosteal/periosteal surface of cortex. Skull, facial bones, sinus and long bones Osteoblast cell tumor Very painful (nocturnal pain) Surgical excision radioablation 5-25 m Osteoblastoma Benign. Larger osteoid osteoma Spine, hips, arms Osteoblast cell tumor Swelling, pain, tender. Back pain. scoliosis/disc herniation. ***NO nocturnal pain, can be painless Osteosarcoma Small cell Telangiectatic Intracortical Malignant Knee (50%), tibia, femur, humerus. Big, bulky, gritty. Raised periosteum. osteoblasts Fibroblasts Chondrocytes telangiectasic Irregular nuclei Giant cells Lace-like pattern Mild intermittent pain around the knee or affected area. Osteochondro ma Benign cartilaginous growth (boney stalk aka exostosis) Displacement of epiphyseal plate Tumor is comprised of thin, irregular trabeculae. Halo bone appearance. Multiple osteomas=Gardner Syndrome Increase serum alkaline phosphatase. Local pain, slow growing, bone deformity Amputation 10-3 5 mf <20 m P53 mutation Retinoblastoma gene mutation Associated diseases: Pagets Bone infarcts Osteochondroma Enchondroma-anomoly Fibrous dysplasia Prefers long bones Chondroma (Enchondroma) Benign tumor in medullary cavity. Composed of hyaline cartilage Hypocellular hyaline cartilage Pain, fracture, deformity. Pathology Morphology Histology signs/symptoms Chondroblasto ma Benign tumor of epiphysis of long bone. Chondroblasts & giant cells (multinucleated ). Spotty calcification of matrix (chicken wire) Chondromyxoi d fibroma Benign 3-8cm circumcised nodule. Chondrosarco ma Non-ossifying fibroma Found in short tubular bones -metacarpals/phalanges Ollier’s disease - multiple enchondromas Maffucci’s syndrome enchondromas, bone deformities, venous malformations Treatment age sex Pathogenesis/misc Necrosis, joint pain, swelling, functional limitation, effusion, restricted mobility. 5-25 M Hyaline cartilage and myxoid tissue. Giant cells Dull pain. Fractures. Radiolucent x-ray with rim of sclerosis. 20’s M Malignant cartilage cells. Begin inside bone. Cortical thickening. Spotty calcification/ossificatio n Hyaline/myoid cartilage. Snowstorm appearance (giant cells) Painful. Nodular mass in bones. X-ray: snowstorm appearance. >30 ’s m> f Axial skeleton, pelvis, ribs, and shoulders. Metastasis lungs and other bones. Elongated, sharply demarcated radiolucency lined by sclerosis. Benign fibroblasts and giant cells/ 2-9 m/f Common. 30-50% of all children. Developmental defect. Femur and tibia. Mostly in knee pelvis/ribs(elderly) Pathology Morphology Fibrous Dysplasia Histology signs/symptoms Treatment age Benign Monostatic, polystatic Minimal. Shepherd Crook Deformity of proximal femur. Bone grafting adl Ewing’s sarcoma Arise in medually. Destroys cortex Periosteal thickening with reactive bone (onion skin) <20 m More common in whites. Long bones - tibia Osteoclastom a AKA giant cell tumor Large mass with cysts. Giant cells. Benign and malignant Soap bubble appearance X-ray - lytic area 3040 F Tibia/femur (knee) sacrum, pelvis, hands/feet. Mostly close to joints Giant cells sex Pathogenesis/misc Craniofacial, shoulder, pelvic. Assoc. Abnormalities: sexual precocity, thyroid disease, abnormal skin pigment By Peter Stadalsky Pathology Morphology Histology signs/symptoms Firbrohistiocytoma or dermatofibroma benign, firm, nodular (1cm) fibroblasts and histocytes painless, slow growing. Leiomyoma Leiomyosacrcoma benign Malignant smooth muscle >18 Rhabdomyoma benign skeletal muscle <18 common in children. Usually near the eyes nasal sinus, throat, cervical spine. Rhabdomyosacrco ma malignant Sk. Muscle <18 Types: Embryonal (ERMS) - head neck, bladder, vagina, prostate, testicles. Alveolar (ARMS) - large muscles of trunk, arms, legs Anaplastic - mostly in adults Nodular Fasciitis random spindle cells, myxoid stroma Pseudosacrcoma Myositis Ossificans muscle ossified to bone Fibromatosis fibrosis of muscle, painful, several cm in size fibroblasts, poorly defined margins swollen, soft, painful mass. Later on becomes hard and firm. Treatment age sex Pathogenesis/misc >18 excision located in dermis, subcutaneous tissue Also a malignant form: malignant fibrohistiocytoma f>m benign: most common in uterus, also in skin esophagus, stomach. Malignant: subcutaneous, extremities, retroperitoneal deep dermis, muscle, rapidly growing 9-9 9 usually in the lower extremities. Other names: stiff man syndrome. Prussians disease - located on adductor superficial, nodular, poorly tendon, ligament, fascia defined. Often in plantar of foot or palmar of hand Duchenne Muscular dystrophy X-linked Absence of dystrophin of microtubule neurons (dystrophin) enlarged muscles, compensatory hypertrophy, loss of striations, weakness and atrophy. 5> M pseudohypertrophy in calfs CPK levels high Starts in pelvis, moves to shoulders then extremities. Patients typically dies of resp. Failure Heart tissue involved Beckers Muscular Dystrophy X-linked neurons (dystrophin) less severe than Duchenne 11> Usually involves pelvic girdle CPK less elevated Heart not involved Fascio-scapulo-h umeral MD autosomal dominant affects muscles of face, neck, shoulder, WINGED SCAPULA 1030 CPK normal Heart not involved Ocular-pharynge al MD autosomal dominant ocular m. (Ptosis) facial weakness, dysplasia 40s prevalent in canada and SW USA Limb-Girdle MD Type I - autosomal dominant Tyle II - autosomal recessive upper and lower extremities 1030 No pseudohypertrophy CPK less elevated Myotonic Muscular Dystrophy autosomal dominant multiple, Mutation of pyoknotic chromosome 19 gene nuclei in muscle tissue. Non-functional Abnormal ring myotonin protein fibers w/ kinase or dystrophia sacrcoplasmic myotonia protein mass, delayed muscle relaxation (myotonia) Hypersomnia, Apathy, mental retardation, sensory deprivation 040 anticipation - symptoms onset earlier in child compared to parents Muscle stiffness: trunk, extremities. Cardiac arrhythmia, tachycardia, cardiomyopathy. kinase (DMPK) intrafusal necrosis congenital myopathies Lamina (alpha) 2 chain deficiency Autosomal recessive intra-cytoplas mic rod bodies Ion channel myopathy autosomal dominant Lipid myopathy Def. in carnitine palmitoyl transferase mitochondrial myopathy myasthenia gravis Lambert Eaton Myasthenic Syndrome Autoimmune: type II hypersensitivity Testicular atrophy Cataracts, ptosis, retinal degeneration hypotonia Arthrogyposis (restricted joint movements) 0 Floppy babies CPK normal myotonia, hypotonic paralysis following exercise, cold temps, and high carb diets. lipid vacuoles in muscles weakness in muscles sub-sarcolem mal collection of mitochondria chronic progressive ophthalmoplegia with weak ex. Ocular muscles. thymic follicular hyperplasia motor nerve disruption Reduced motor response NOT sensory/autonomics Ptosis, diplopia proximal muscle weakness hypo/hypo or normal K levels Thomson disease Beckers 0 Episodes of Rhabdomylosis Myoglobinuria Renal failure (fatal) Kearns-sayre syndrome opthalmoplagia with retinal pigment degeneration heart block, short stature, cerebellar ataxia <40 f> m ANTI-ACHR antibodies and complement in serum Typically death by resp failure ANTI-ACHR antibodies absent By Peter Stadalsky Pathology Morphology Histology signs/symptoms Treatment Systemic Lupus Erythematosus Immune Complex-mediatedType III hypersensitivity Self-antigens against: -plasma proteins -Protein phospholipid-complexes -Cell surface antigens -Intracellular cytoplasmic components Fatigue, fever, polyarthralgia, weight change. Malar butterfly rash, arthritis, vasculitis, nephritis. Focal proliferative glomerulonephritis, Pleurisy, GI pain, pericarditis, cytopenia, neuropsychiatric effects, photosensitivity Corticosteroids, immunosuppress ant drugs. Steroids, anti-TNF agents Rheumatoid Arthritis T Cell-Mediated Type IV Hypersensitivity T-cells secrete cytokines into specific joints (TNF-A) Destruction of articular cartilage IgG & AgM found in affected joints Symmetrical swelling in hands and feet. Aching, stiff joints. Persistent tenosynovitis and synovial cysts. Swan-neck deformity, boutonniere deformity. Rheumatoid nodules on forearm extensors/elbow. Keratoconjunctivitis. GoodPasture Syndrome/AntiGlomerular Basement Membrane Disease Antibody-mediated Type II hypersensitivity Antibodies attack kidneys and/or lungs Cough, fatigue nausea Sjogren Syndrome type III Inflammation of lacrimal and salivary glands T-cells (CD-4) act against self-Ag in glands Increased lymphocytes Keratoconjunctivitis sicca (dry eyes) xerostomia (dry mouth) enlarged salivary glands, ulcers in mouth, angular cheilitis. Fatigue, myalgia. age sex Pathogenesis/misc f>m Antinuclear antibodies (ANA) in blood. Chronic discoid lupus - skin only, no ANA Oral: hydration, dental hygiene. Eye: lubrication solutions. Steroids, immunosupress 40> 3065 X-ray - marginal erosions in PIPs. Atherosclerosis most common cause of death. CRP and Rheumatoid factor in blood serum. m>f Proteinuria anti-GBM in serum f Increased risk of lymphoma Bronchial gland atrophy is common. Peripheral neuropathy. ANA, Anti-SS-A, anti-SS-B in blood. Rheumatiod Factor Systemic Sclerosis/ Scleroderma CD4 and T-cells accumulate. inflammation/fibrosis of interstitium of organs Mask face, claw hands. Difficulty swallowing. Lung (alveolar) fibrosis. Sclerotic skin. Renal sclerosis. Telangiectasia. Calcinosis. DX antibody: anti-Scl 70 Local type Calcinosis Raynaud phenomenon Esophageal dysmotility Sclerodactyly Telangiectasia Diffuse type widespread skin, visceral involvement. Multiple fibroids in multiple organ systems Dermatomyos itis Inflammation around small blood vessels, perifascicular atrophy. Perimysial inflammation. Heliotrope rash on eyelids and periorbital edema. Bilateral muscle weakness, proximal muscles first. Dysphagia. Gottron’s papules (redness over knuckles/knees/elbow) Corticosteroids Increased Creatine Kinase, ANA, Anti-Jo-1 antibody. Myasthenia Gravis Antibody-Mediated Type II Hypersensitivity Pathological post-synaptic ACl receptor Hashimoto Thyroiditis type II and IV Antibody mediated cell cytotoxicity. hypothyroidism f>m Anti TSH receptor antibodies hypothyroidism Graves Disease Antibody-Mediated Type II Hypersensitivity Over active thyroid TSH receptor Enlarged thyroid. Hyperreflexia, tachycardia, arrhythmias. Lid lag (eyes), exophthalmos Increased sweating. Polyphagia, diarrhea. Osteoporosis f> m Autoantibodies mimic TSH hyperthyroidism Ulcerative type IV Autoantibodies, Diarrhea, bloody stools, colitis Ankylosing spondylitis HLA-B27 gene immune complexes, cytotoxic T-lymphocytes dehydration. Liver,skin, joint, and eye complications. Increased TNF-A Back pain, stiffness. Pain reduced with movement. Begins in the S.I. joint. TNF blocker Anti-IL-6 PT Omega 3-FA Reduce starch Increased CRP, erythrocyte sedimentation rate X-ray: bamboo spine