Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
112 Cards in this Set
- Front
- Back
What is Achondroplasia?
|
**AD trait
=Failure of longitudinal bone growth --> SHORT LIMBS NOW, membranous ossification is NOT affected = skull, facial bones, and axial skeleton are NORMAL **Head + trunk are normal in size, BUT limbs are much shorter than normal. |
|
What is Osteoarthritis?
|
**Mechanical wear-and-tear of joints leads to DESTRUCTION of articular cartilage PLUS:
1) Subchondral bone formation 2) Sclerosis 3) Osteophytes 4) Heberden's nodes (DIP) 5) Bouchard's nodes (PIP) 6) Eburnation =change in exposed subchondral bone in which it is converted to a dense substance w/ a smooth surface like ivory |
|
Clinical Presentation:
|
**Common in OLDER patients.
=Pain in weight-bearing joints after USE (i.e. at the end of the day) --> IMPROVING w/ rest **NO SYSTEMIC SYMPTOMS! |
|
Rheumatoid Arthritis
|
**AUTOIMMUNE, INFLAMMATORY disorder affecting synovial joints
=PANNUS formation in joints--MCP + PIP **Females > Males **80% have POSITIVE RHEUMATOID FACTOR (anti-IgG Ab) |
|
Classic Presentation:
|
1) Morning Stiffness improving w/ use
2) Symmetric joint involvement 3) Boutonniere Deformity, Swan-Neck Deformity, and Z-thumb Deformity 4) Systemic symptoms =fever =fatigue =pleuritis =pericarditis |
|
Physical Exam Findings:
|
1) Subcutaneous rhematoid nodules
2) Ulnar deviation 3) Subluxation =partial dislocation due to deformation of the joint space COLOR IMAGE 56 |
|
Osteoporosis
|
=Reduction of BONE MASS in spite of normal bone mineralization
**Affects WHITES > Blacks > Asians |
|
Type I
|
**Postmenopausal
=Increased bone reabsorption due to DECREASED estrogen levels **Estrogen replacement is controversial as prophylaxis (=side effects) |
|
Type II
|
**Senile Osteoporosis
=Affects men AND women > 70 y.o. |
|
What is the major threat of Osteoporosis?
|
**FRACTURE
1) Vertebral Crush Fractures --> seen mainly in TYPE I =Acute back pain =Loss of height =Kyphosis 2) Distal radius (=Colles') fractures --> Type II 3) Vertebral wedge fractures --> Type II |
|
What can you give patients if they have REALLY severe cases of osteoporosis?
|
=Bisphosphonates OR pulsatile PTH
|
|
What is Osteopetrosis?
|
="Marble Bone Disease"
**Failure of normal bone resorption --> thickened, dense bones **Bone defect is due to abnormal function of OSTEOCLASTS =Serum calcium, phosphate, and alkaline phosphatase are NORMAL |
|
What is Osteomalacia/Rickets?
|
**Defective mineralization of osteoid --> SOFT BONES
=Vitamin D deficiency in adults --> DECREASED Ca levels --> INCREASED secretion of PTH + Increased serum phosphate **REVERSIBLE when vitamin D is replaced. **In childhood--vitamin D deficiency causes rickets. |
|
What is Osteitis Fibrosa Cystica?
|
**Caused by HYPERPARATHYROIDISM
=characterized by "BROWN TUMORS" --> cystic spaces lined by osteoclasts, filled w/ fibrous stroma + sometimes blood |
|
Lab Results:
|
=HIGH serum Ca
=LOW serum phosphorus =HIGH alkaline phosphatase |
|
What is Paget's Disease?
|
="Osteitis Deformans"
**Abnormal bone architecture caused by an increase in BOTH osteoblastic + osteoclastic activity |
|
Lab Results:
|
=Serum Ca, phosphorus, and PTH levels are normal
=Serum ALKALINE PHOSPHATASE is ELEVATED |
|
What is Polyostotic Fibrous Dysplasia?
|
**Bone is replaced by fibroblasts, collagen + irregular bony trabeculae
=affects MANY bones **A specific form of it is called "Albright's Syndrome" |
|
What is Albright's Syndrome?
|
**Form of polystotic fibrous dysplasia in which there are MULTIPLE UNILATERAL bone lesions associated w/:
1) Endocrine Abnormalities =Precocious puberty 2) Unilateral pigmented skin lesions |
|
What is Polymyalgia Rheumatica?
|
**Pain + stiffness in shoulders and hips OFTEN w/ fever, malaise, and weight loss
=does NOT cause muscle weakness **Occurs in patients > 50 y.o. **Associated w/ Temporal (GIANT CELL) Arteritis =can suspect polymyalgia rheumatica via an ELEVATED ESR |
|
How would you treat Polymyalgia Rheumatica?
|
Prednisone
|
|
What is Polymyositis?
|
=Progressive proximal muscle weakness caused by CD8+ T-cell-induced injury to myofibers
**Muscle biopsy w/ evidence of inflammation is diagnostic. |
|
What is Dermatomyositis?
|
**Similar to polymyositis BUT also involves a SKIN RASH + an increased risk of MALIGNANCY
|
|
What do labs for polymyositis/dermatomyositis show?
|
1) Elevated CK
2) Elevated ALDOLASE 3) Positive ANA 4) Anti-Jo-1 |
|
What is mixed connective tissue disease?
|
1) Raynaud's Phenomenon
=vasospastic disorder causing discoloration of fingers/toes 2) Arthralgias and myalgias 3) Fatigue 4) Esophageal hypomotility |
|
Etiology:
|
AUTOIMMUNE DISEASE
**Antibodies to U1-RNP |
|
What is the classic triad of Sjogren's Syndrome?
|
1) Xerophthalmia
=dry eyes, conjunctivitis 2) Xerostomia =dry mouth, dysphagia 3) Arthritis =i.e. associated w/ RHEUMATOID ARTHRITIS --> most people will be RF + =i.e. immune cells attack and destroy exocrine glands that produce tears and saliva **Also may have parotid enlargement. |
|
Who does it predominantely affect?
|
FEMALES between 40 and 60 y.o.
|
|
Risks of Sjogren's:
|
**Increased risk of B-cell lymphoma
|
|
Laboratory Results:
|
1) Autoantibodies to ribonucleoprotein antigens
2) Anti-nuclear Abs (=ANAs) = SS-A (Ro) = SS-B (La) --> more specific |
|
What is SICCA SYNDROME?
|
**The constellation of clinical SYMPTOMS relating to the actual salivary gland destruction:
=dry eyes =dry mouth =nasal + vaginal dryness =chronic bronchitis =reflux esophagitis **NOW, when you COMBINE these symptoms w/ a CT disorder (=usually RA) --> you get SJOGREN'S SYNDROME |
|
What population do you normally find SLE in?
|
**90% female between 14 and 45 (=reproductive age)
**Most common + severe in BLACK females |
|
Symptoms of SLE:
|
DOPAMINe RASH
1) Discoid Rash 2) Oral ulcers 3) Photosensitivity 4) Arthritis =NOT usually bone-destructive 5) Malar rash =BUTTERFLY WING rash 4) Immunoglobulins =anti-dsDNA =anti-Sm =antiphospholipid ab 5) Neurologic disorders 6) Renal disorders 7) Antinuclear antibody 8) Serositis =pleuritis =pericarditis 9) Hematologic disorders |
|
Other Symptoms:
|
=Fever
=Fatigue =Weight loss =Nonbacterial verrucous endocarditis --> Liebmann Sacks =Hilar adenopathy =Raynaud's phenomenon |
|
What specifically is going on in the kidney?
|
**Membranous glomerulonephritis with WIRE LOOP lesions in the kidney:
=due to immune complex deposition on the BM =Causes NEPHROTIC SYNDROME --> kidneys damaged + so leak protein into urine = proteinuria **Death is often from RENAL FAILURE as well as INFECTIONS. |
|
Lab Tests Will Detect the Presence of:
|
1) ANA
=sensitive but NOT specific for SLE 2) anti-dsDNA =Abs to double-stranded DNA =VERY specific --> POOR prognosis 3) Anti-Smith (anti-Sm) Abs =VERY specific but NOT prognostic 4) Antihistone Abs =seen in DRUG-INDUCED lupus **Patients might also have false positives on syphilis tests (RPR/VDRL) =due to antiphospholipid antibodies COLOR IMAGE 52 |
|
What is Celiac Sprue?
|
**Autoimmune-mediated intolerance of GLIADIN (=wheat) --> leading to STEATORRHEA
**Associated w/ people of northern european descecnt |
|
Findings:
|
**Tends to affect the JEJUNUM (=small bowel)
1) Blunting of villi 2) Lymphocytes in the lamina propria 3) Abnormal D-xylose test **Can be associated w/ dermatitis herpetiformis =itchy cutaneous condition linked to the transglutaminase enzyme in the skin |
|
Complication/Risk:
|
10-15% lead to MALIGNANCY
=usually T-cell lymphoma |
|
What is Gout?
|
**Precipitation of monosodium urate crystals into joints due to HYPERURICEMIA
|
|
What can cause hyperuricemia?
|
1) Lesch-Nyhan Syndrome
2) PRPP Excess 3) Decreased excretion of uric acid 4) Glucose-6-Phosphate Deficiency 5) Associated w/ use of thiazide diuretics =bc they competitively inhibit the secretion of uric acid |
|
What is Lesch-Nyhan Syndrome?
|
=build-up of uric acid in all body fluids
=causes gout, poor muscle control, + moderate MR =kiddos have self-mutilating behaviors--i.e. try to bite off their fingers/lips |
|
Classic Presentation:
|
**More common in MEN
**Assymetric joint distribution **Painful MTP joint in the big toe (=podagra --> gout of the foot) **Tophus formation =often on external ear OR Achille's tendon |
|
When do "attacks" of gout usually occur?
|
**Acute attacks tend to occur after alcohol consumption OR a large meal
COLOR PLATE 54 |
|
What do the urate crystals look like?
|
=Needle shaped + NEGATIVELY birefringement
|
|
Treatment of Gout:
|
1) Allopurinol
2) Probenecid 3) Colchicine 4) NSAIDs |
|
What is PSEUDOgout?
|
**Caused by deposition of calcium pyrophosphate crystals w/i the joint space.
**Usually affects LARGE joints =classically the KNEE **Occurs in people >50 y.o. --> BOTH sexes affected equally **NO treatment |
|
What do the crystals look like?
|
**Basophilic, RHOMBOID crystals that are WEAKLY POSITIVELY BIFRINGENT
=i.e. as opposed to the negatively birefringent needle-shaped crystals in gout |
|
What is Goodpasture's Syndrome?
|
**Type II Hypersensitivity Reaction
=autoimmune disease where Abs attack specific antigens (i.e. Goodpasture's antigens) in the glomeruli of the KIDNEY and ALVEOLI of lungs **Most common in MEN 20-40 y.o. |
|
Findings:
|
**Most patients present w/ BOTH lung and kidney disease, but they can present w/ one alone:
1) Pulmonary hemorrhages --> hemoptysis 2) Renal lesions --> hematuria, anemia, + crescentic glomerulonephritis (i.e. rapidly-progressive glomerulonephritis) **Anti-glomerular basement membrane Abs (Anti-GBM Abs) produce LINEAR STAINING on immunoflorescence. |
|
What is Sarcoidosis?
|
**Characterized by immune-mediated, widespread NONCASEATING granulomas + elevated serum ACE levels
=granulomas most often appear in the LUNGS and LYMPH NODES **Common in BLACK FEMALES |
|
SO...Symptoms of Sarcoidosis
|
"GRAIN"
=Gammaglobulinemia =RA =ACE increase =Interstitial fibrosis =Noncaseating granulomas |
|
Associated with:
|
1) Restrictive lung disease
2) Bilateral hilar lymphadenopathy 3) Erythema nodosum 4) Bell's Palsy 5) Epithelial granulomas containing microscopic Schaumann + asteroid bodies 6) Uveoparotitis 7) Hypercalcemia =due to elevated conversion of vitamin D to its active form in epitheliod macrophages **IMAGE 104 |
|
Seronegative Spondyloarthropathies
|
**Arthritis WITHOUT RF
=i.e. NO anti-IgG antibody **Strong association w/ HLA-B27 =i.e. the gene that codes for HLA MHC I **Occurs more often in MALES **Includes: =Ankylosing Spondylitis =Reiter's Syndrome |
|
Ankylosing Spondylitis
|
**Chronic inflammatory disease of the spine + sacroiliac joints --> results in:
1) Ankylosis (=stiff spine) 2) Uveitis 3) Aortic regurgitation |
|
Reiter's Syndrome
|
CLASSIC TRIAD:
1) Urethritis 2) Conjunctivitis + anterior uveitis 3) Arthritis **Can't SEE (=anterior uveitis/conjunctivits), can't PEE (=urethritis), can't climb a TREE (=arthritis) **Occurs post-GI OR CHLAMYDIA infections. |
|
Scleroderma
|
="Progressive Systemic Sclerosis" (PSS)
**Excessive fibrosis + collagen deposition throughout the body--mainly skin **Commonly involves sclerosis of the SKIN but can also involve the CV + GI systems and the KIDNEY **75% female **2 Major Categories: =Diffuse Scleroderma =CREST Syndrome |
|
What is Diffuse Scleroderma?
|
**Widespread skin involvement and EARLY visceral involvement
**Rapid progression =bc this is the more generalized, systemic type--can be fatal due to heart, kidney, lung, or intestinal damage! **Associated w/ anti-Scl-70 antibody |
|
What is the CREST Syndrome?
|
**CREST
=Calcinosis =Raynaud's phonomenon =Esophageal dysmotility =Sclerodactyly =Telangiectasia (i.e. small enlarged blood vessels near surface of skin) **Limited skin involvement--often CONFINED to fingers + face **More benign clinical course **Associated w/ ANTICENTROMERE ANTIBODY COLOR PLATE 53 |
|
Dermatitis
|
**Group of inflammatory pruritic skin disorders
Etiology: =Allergy (usually Type IV hypersensitivity) =Chemical injury =Infection |
|
Atopic Dermatitis
|
**"eczema"**
=Pruritic eruption--commonly on FLEXOR surfaces **Often associated w/ other atopic diseases =asthma =allergic rhinitis |
|
Allergic Contact Dermatitis
|
**Type IV hypersensitivity reaction that follows exposure to allergen:
=poison ivy/oak =nickel =rubber =chemicals **Lesions occur at SITE of contact |
|
Psoriasis
|
**Epidermal hyperplasia (=acanthosis) w/ parakeratotic scaling (i.e. nuclei still in stratum corneum) especially on the KNEES and ELBOWS
**"Red patches w/ silvery scales"** |
|
Findings in Psoriasis:
|
1) Increased stratum spinosum
2) DECREASED stratum granulosum COLOR IMAGE 65 **Auspitz sign =punctate bleeding sites when psoriasis scales are scraped off |
|
Dermatitis herpetiformis
|
**Pruritic papules and vesicles
**Associated w/ CELIAC DISEASE |
|
Lichen planus
|
**Pruritic, purple, polygonal papules
=infiltrate of lymphocytes at dermoepidermal junction |
|
Erythema multiforme
|
**Associated w/ infections, drugs, cancers, and autoimmune disease
**Presents w/ multiple types of lesions including: =macules =papules =vesicles =target lesions (i.e. red papules w/ a pale central area) |
|
What is a major form of Erythema multiforme?
|
**Stevens-Johnson Syndrome
**Characterized by: =high fever =bulla formation and necrosis =ulceration of the skin =high mortality rate |
|
Seborrheic keratosis
|
**Flat, pigmented squamous epithelial proliferation w/ keratin-filled cysts (=HORN CYSTS)
**Benign--lesions look like they were "pasted on" |
|
Actinic keratosis
|
**CAUSED BY SUN EXPOSURE
=small, rough erythematous or brownish papules **PREMALIGNANT lesion =risk of progressing to squamous cell carcinoma **Risk is proportional to epithelial dysplasia |
|
Keloid
|
**Tumor of CT elements of dermis that causes raised, thickened scars
**Follows trauma to the skin, especially in African Americans |
|
Bullous pemphigoid
|
**Autoimmune disorder w/ IgG antibody against EPIDERMAL BASEMENT MEMBRANE
=i.e. shows linear immunoflorescence **Similar but LESS SEVERE than pemphigus vulgaris --> i.e. affects skin but SPARES oral mucosa COLOR IMAGE 64 |
|
Pemphigus vulgaris
|
**Potentially fatal autoimmune skin disorder
=intradermal bullae involving the oral mucosa **SO, skin basically sloughs off! |
|
Findings in Pemphigus vulgaris:
|
1) Acantholysis
=breakdown of epithelial cell-to-cell junctions 2) IgG antibody against epidermal cell surface =immunoflorescence throughout epidermis COLOR IMAGE 63 |
|
Squamous Cell Carcinoma
|
**Very common
**Associated with: =Excessive SUN exposure =Arsenic exposure **LOCALLY invasive but rarely metastasizes **Precursor = actinic keratosis |
|
Where does SCC commonly appear?
|
Hands and Face
|
|
Histopathology?
|
KERATIN PEARLS
(COLOR IMAGE 60) |
|
Basal Cell Carcinoma
|
**Most common in SUN-EXPOSED areas of the body
**Locally invasive BUT almost NEVER metastasizes |
|
GROSS and HISTOLOGIC apperance:
|
GROSS
=pearly papules =COLOR IMAGE 62 HISTOLOGICALLY ="palisading" nuclei |
|
Melanoma
|
**Common tumor w/ significant risk of metastasis
=DEPTH of tumor correlates w/ risk of metastasis **Precursor lesion = DYSPLASTIC NEVI **Associated w/ SUNLIGHT EXPOSURE =fair-skinned people are at an increased risk |
|
Primary Bone Tumors
|
BENIGN
=Giant Cell Tumor =Osteochondroma =Enchondroma MALIGNANT =Osteosarcoma =Ewing's Sarcoma =Chondrosarcoma |
|
Giant Cell Tumor
|
**Occurs most commonly at the epiphyseal end of long bones
=LOCALLY AGGRESSIVE benign tumor often around the distal femur/proximal tibial region **Peak incidence 20-40 y.o. |
|
Appearance on X-Ray:
|
=characteristic "DOUBLE BUBBLE" or "SOAP BUBBLE" appearance on X-ray
|
|
Histology:
|
Spindle-shaped cells + MULTINUCLEATED GIANT CELLS
|
|
Osteochondroma
(=exostosis) |
**MOST COMMON BENIGN BONE TUMOR
=usually MEN <25 y.o. **Commonly originates from long metaphysis **Malignant transformation to chondrosarcoma is RARE |
|
Enchondroma
|
**Benign cartilaginous neoplasm found in intramedullary bone
**Usually DISTAL EXTREMITIES (vs. chondrosarcoma) |
|
Osteosarcoma
(=osteogenic carcinoma) |
**MOST COMMON MALIGNANT TUMOR OF BONE
**Peak incidence in men 10-20 y.o. **Commonly found in the metaphysis of LONG BONES |
|
Predisposing Factors:
|
1) Paget's disease of bone
2) Bone infarcts 3) Radiation 4) Familial retinoblastoma |
|
X-ray Findings:
|
CODMAN'S TRIANGLE
=due to elevation of the periosteum |
|
Ewing's Sarcoma
|
**Anaplastic small blue cell malignant tumor
**MOST COMMON in boys <15 =associated w/ an 11:22 translocation **Extremely aggressive w/ early metastasis BUT responsive to chemo. **Commonly appears in the diaphysis of long bones, pelvis, scapula, and ribs |
|
Appearance of Bone:
|
**characteristic "ONION SKINNING" appearance
|
|
Chondrosarcoma
|
**Malignant cartilaginous tumor
**Usually found in MEN age 30-60 **Usually located in the: =pelvis =spine =scapula =humerus =tibia =femur **May be of PRIMARY origin OR from an OSTEOCHONDROMA |
|
What is Buerger's Disease?
|
**Also known as "thromboangiitis obliterans"
=Idiopathic, segmental, thombosing vasculitis (inflammation + thrombosis) of intermediate and small peripheral arteries and veins--usually of the feet and hands **Seen in HEAVY SMOKERS |
|
Findings:
|
1) Intermittent claudication
2) Superficial nodular phlebitis 3) Cold sensitivity =Raynaud's phenomenon 4) Severe pain in affected part **May lead to GANGRENE **Treatment = QUIT smoking! |
|
Takayasu's Arteritis
|
**Known as "pulseless disease"
=granulomatous thickening of the aortic arch and/or proximal great vessels (i.e. medium + large arteries) **Associated w/ an elevated ESR **Primarily affects ASIAN FEMALES < 40 y.o. |
|
Symptoms:
|
**"FAN MY SKIN On Wednesday"
=Fever =Arthritis =Night sweats =MYalgia =SKIN nodules =Ocular disturbances =Weak pulses in upper extremities |
|
Temporal (GIANT CELL) Arteritis
|
**Most common vasculitis that affects MEDIUM and SMALL arteries --> usually branches of the CAROTID ARTERY
=Focal, granulomatous **ESR MARKEDLY elevated **Affects elderly females **GIVE STEROIDS ASAP to prevent BLINDNESS! |
|
Findings:
|
1) Unilateral headache
2) Jaw claudication 3) Impaired vision =occlusion of the opthalmic artery --> can lead to blindness 4) 1/2 of patients have SYSTEMIC involvement + Polymyalgia Rheumatica =proximal muscle pain + periarticular pain |
|
Polyarteritis nodosa
|
**Characterized by necrotizing immune complex inflammation of MEDIUM-SIZED MUSCULAR arteries
=typically involves RENAL and VISCERAL vessels **Lesions are of different ages! |
|
Symptoms:
|
1) Fever
2) Weight loss 3) Malaise 4) Abdominal pain + melena 5) Headache 6) Myalgia 7) HTN 8) Neurologic dysfunction 9) Cutaneous eruptions |
|
Findings:
|
**Hepatitis B seropositivity in 30% of patients!
**Multiple aneurysms and constrictions on arteriogram **NOT associated w/ ANCA (anti-neutrophil cytoplasmic antibody) |
|
Treatment:
|
Corticosteroids, cyclophosphamide
|
|
Wegener's Granulomatosis
|
**Characterized by a TRIAD of:
1) Focal necrotizing vasculitis 2) Necrotizing granulomas in the lung + upper airway 3) Necrotizing glomerulonephritis |
|
Symptoms:
|
1) Perforation of the nasal septum
2) Chronic sinusitis 3) Otitis media 4) Mastoiditis 5) Cough, dyspnea, hemoptysis 6) Hematuria **i.e. form of vasculitis that affects mainly the LUNGS and KIDNEYS |
|
Findings:
|
**C-ANCA**
=strong marker of disease **Chest X-ray may reveal LARGE NODULAR DENSITIES **In urine: =hematuria =red cell casts |
|
Treatment:
|
Cyclophosphamide and corticosteroids
|
|
Microscopic polyangiitis
|
**Like Wegener's but LACKS granulomas
=can be P (=perinuclear; usually) or C-ANCA |
|
Primary pauci-immune crescenteric glomerulonephritis
|
Vasculitis limited to KIDNEY
=usually P-ANCA |
|
Churg-Strauss Syndrome
|
**Granulomatous vasculitis w/ EOSINOPHILIA
=usually P-ANCA **Involves: =Lungs (mainly) =Heart =Skin =Kidneys =Nerves **Often seen in atopic patients =i.e. begins as a worsening of allergies OR new onset allergies --> progresses into ACUTE ASTHMA --> symptoms involving various organ systems |
|
Kawasaki Disease
|
**Acute/self-limiting disease of infants/kids
=ACUTE NECROTIZING vasculitis of small/medium sized vessels |
|
Symptoms:
|
=Fever
=Congested conjunctiva (red eyes) =Changes in lips/oral mucosa (red cracked lips, red oral mucosa + "strawberry tongue") =Lymphadenitis **May develop CORONARY ANEURYSMS |
|
Henoch-Schonlein Purpura
|
**Most common form of childhood SYSTEMIC VASCULITIS
=usually preceded by an URTI =characterized by prominent tissue deposition of IgA-containing immune complexes esp. in the skin and kidney Symptoms: =purpuric skin rash =arthralgia =intestinal hemorrhage =abdominal pain =melena |