What are two things that characterize sarcoidosis?
widespread non-caseating granulomas, elevated ACE levels.
What does GRAIN stand for?
Gammaglobulinemia, Rheumatoid arthritis, ACE elevation, Interstitial fibrosis, Non-caseating granulomas -- (sarcoidosis).
What is the treatment for sarcoidosis?
Symmetrical proximal muscle weakness by CD8+ T-cell injury, most often shoulders, muscle inflammation diagnostic.
Polymyositis also involving malar and heliotrope rashes, gottron's papules, has increased risk of malignancy.
What characterizes Scleroderma (Progressive systemic sclerosis)?
Excessive fibrosis and collagen deposition systemically, commonly in skin (derma), involves renal, pulmonary, CV, and GI systems.
What are the two major types of Scleroderma?
Diffuse scleroderma and CREST syndrome.
What is Diffuse scleroderma, which antibody is associated?
Widespread skin involvement, early visceral involvement, anti-Scl-70 antibody.
CREST syndrome and antibody?
Calcinosis, Raynaud's phenomenon, Esophageal dysmotility, Sclerodactyly, Telangienctasia -- antiCentromere antibody, most benign course.
What are verrucae?
warts, soft, tan-colored, cauliflower-like lesions -- epidermal hyperplasia, hyperkeratosis, koilocytosis.
Hives, wheals, pruritic, common, mast cell degranulation (hypersensitivity type II).
Atopic dermatitis (eczema)?
Pruritic eruption, skin flexures, associated with other atopic diseases (asthma, allergic rhinitis).
Contact dermatitis (allergy)?
Type IV hypersensitivity on site of exposure to allergen.
Autoimmune, silvery, scaly papules and plaques, knees and elbows (extensor), acanthosis w/parakeratotic scaling, increased spinosum, decreased granulosum, nail pitting and psoriatic arthritis -- auspitz sign: bleeding spots when scales scraped off.
What is parakeratosis?
The nuclei remain in keratinocytes of stratum corneum.
Flat, greasy squamous epithelial proliferation with keratin filled cysts, head, trunk, extremeties, benign.
What is the sign of Leser-Trelat?
Sudden appearance of multiple seborrheic keratosis may indicate an underlying malignancy.
What are 4 characteristics of Osteogenesis imperfecta?
AD, Defetective collagen 1 synthesis, blue sclera, deafness.
How do you treat osteogenesis imperfecta?
bisphosphonates (increase bone mineralization).
What is the main mutation in achondroplasia?
FGFR3 (constituvely active), AD.
What are the two types of osteopetrosis?
AR (severe), AD (less severe).
Osteoclast deficiency, carbonic anhydrase II deficiency, "too much bone" (cortical).
Clinical findings of osteopetrosis?
Anemia, pathologic fractures, cranial nerve compression (visual and hearing loss), normal levels of ALP, serum calcium, phosphate.
What is the most common site and organism in osteomyelitis?
Metaphysis (tibia and fibula), staph aureus.
What is the common organism in sickle cell patients?
Tuberculosus osteomyelitis, hematogenous spread to vertebral column and intervertebral disc.
What is the sequestrum, involucrum?
Sequestrum: area of neutrophilic necrosis, involucrum: reactive bone formation around sequestrum.
When do you see pseudomonal aeruginosa osteomyelitis?
Puncture of foot through rubber footwear.
What is osteoporosis?
Decreased bone mass, primarily trabecular bone.
What are the two classifications of osteoporosis?
Primary: most common, idiopathic in children, postmenopausal, senile -- Secondary: underlying disease, drugs hypogonadism, malnutrition, space travel.
Pathogenesis of postmenopausal osteoporosis?
Estrogen deficiency -> increased osteoclast resorption, decreased osteoblast bone formation.
What are the three most common bone fractures in osteoclast?
Femoral neck, colles' fracture (distal radius), vertebral compression fracture.
What is Mccune albright syndrome?
Polyostotic fibrous dysplasia, cafe au lait, precocious puberty.
What is the most common bone affected in fibrous dysplasia?
Clinical findings of fibrous dysplasia?
Pain overlying bone, swelling of bone.
What is the most common malignancy of bone?
what is the most common primary site of metatastic bone tumor?
Brest cancer, prostate in men, then: lung, kidney.
Most common primary bone tumor?
Multiple myeloma, osteogenic sarcoma, chondrosarcoma, Ewing's sarcoma.
Most common benign bone tumor, metaphysis of distal femur, outgrowth of bone (exostosis - includes medulla) capped by cartilage, loss of function mutation ext1, ext2, 10-30 y/o males.
20-50 y/o, medullary location, small tubular bones in hands and feet, multiple enchondroma: risk of chondrosarcoma.
10-20 y/o males, less than 2cm diameter, cortex of proximal femur, nocturnal pain responds to aspirin, radiolucent focus surrounded by sclerotic bone.
Any age, associated with Gardner's syndrome, new piece of bone grows on another piece in skull.
Similar to osteoid osteoma, larger than 2cm, vertebral column, does not respond to aspirin.
Giant cell tumor (osteoclastoma)?
Benign, 20-40 y/o females, epiphyseal distal femur, locally aggressive, multinucleated cells, "soap bubble" appearances.
Malignant, 10-25 y/o male, codmann's triangle, metaphysis of distal femur, proximal tibia, very aggressive.
Risk factors for osteosarcoma?
Familial retinoblastoma, paget's disease, radiation.
Malignant, males 10-20 y/o, anaplastic blue cell tumor, overexpression of myc2 (11;22 translocation), diaphysis of long bones, pelvis, scapula, ribs, "onion peel" appearance, early metastasis, responsive to chemotherapy.
30-60 y/o male, pain and swelling, arise denovo within medullary cavity, pelvis, spine, scapula, not distal extremities, resistant to chemotherapy, metastasizes to lungs.
Which crystals are negatively birefringent, what do they look like?
Monosodium Urate, needle-shaped (monoclinic) -- Gout.
Calcium pyrophosphate crystals?
Pseudogout, rhomboid crystals, positive birefringence.
What are mucin clots for?
Evaluate joint viscosity, amount of hyaluronic acid.
What does poor mucin clot formation reflect?
Decreased hyaluronic acid, joint inflammation.
What are noninflammatory joint disorders?
Osteoarthritis, neuropathic joint.
Inflammatory joint disorders?
Most common: gonococcemia, lyme disease.
Hemorrhage joint disorders?
Trauma, hemophilia A and B.
What does arthritis include?
Pain, joint swelling, tenderness, warmth.
What disorders have characteristic morning stiffness (>30min)?
RA, polymyalgia rheumatica, SLE.
What is the most common disabling joint disease?
What are some secondary causes of osteoarthritis?
Legg-Calve-perthes, osteochondritis dissecans, obesity, trauma, neuropathic joint, meniscus injuries, hemochromatosis.
What is Legg-Calve-Perthes disease?
Avascular necrosis of femoral head in children.
Common sites of OA?
Femoral head, knee, cervical/lumbar vertebrae, hands.
What collagen makes up articular cartilage?
Type II, and proteoglycans.
What is the most common complaint of OA?
Pain, pain, pain.
What joints are involved in OA of hands?
DIP's - heberden's node, PIP's - bouchard's nodes.
What are some treatments for OA?
Heat, decreased weight bearing (cane), ROM exercise, analgesics, joint replacement.
What is Charcot's joint?
Neuropathic arthropathy, non-inflammatory-- loss of proprioception, deep sensation -> leads to recurrent trauma.
What are three causes of Charcot's joint?
DM (tarsometatarsal), syringomyelia (shoulder, elbow, wrist joints), Tabes dorsalis (hip, knee, ankle joints).
What is syringomyelia?
Cyst in spinal cord.
What is tabes dorsalis?
Demyelination of propioceptive neurons due to untreated syphilis infection.
RA is associated with what gene?
What is rheumatoid factor?
IgM antibody against Fc portion of IgG.
What cytokine is activated by immune complexes, who do they call in turn?
C5a, chemotactic for neutrophils and other leukocytes --> chronic synovitis and pannus formation.
What is pannus?
Granulation tissue formed within synovial tissue by fibroblasts and inflammatory cells.
What can fibrosis repair cause?
Ankylosis of joint.
What are some clinical findings of RA?
Symmetric involvement of hand joints: MCP, PIP.
Two deformities seen with RA?
Swan neck, boutonniere.
How does RA affect lung?
Intertitial fibrosis, effusions, chronic pleuritis.
Hematologic effects of RA?
Anemia of chronic disease (ACD), AIHA, Felty's syndrome.
What is Felty's syndrome?
Autoimmune neutropenia and splenomegaly with RA.
What is AIHA?
Autoimmune hemolytic anemia.
What part of spine does RA affect?
Cervical spine -- subluxation of atlantoaxial joint, cord/vertebral artery compression.
What is Caplan syndrome?
Rheumatoid nodules in lung plus pneumoconiosis.
Where will you find Rheumatoid nodules?
Extensor forearm, lungs -- fibrinoid necrosis in center of nodules, correlates with very high RF.
How does RA affect CV system?
Pericarditis, aortitis, vasculitis.
What is a baker's cyst?
Outpouching of synovial sack in popliteal fossa - due to increased intra-articular pressure.
Lab findings in RA?
positive ANA (sensitive not specific), positive RF, normal to increased serum C3, decreased synovial C3, increased serum total protein.
Treatment of RA?
Movement of joints (swimming), initially with NSAIDS, Methotrexate, gold cpds, corticosteroids, cyclosporine, TNF-a blockers(if DMARD innefective).
Which is the most commonly used DMARD?
What are the characteristics of sjogren's syndrome?
Xerostomia, xeropthalmia, RA -- sicca syndrome -- female dominant disorder, autoimmune.
Lab findings of sjogren's?
ANA, RF, Anti-SS-A Ro, Anti-SS-B La antibodies.
What confirms sjogren's?
Lip biopsy to show lymphoid destruction of minor salivary glands.
Treatment for sjogren's?
Artificial tears, pilocarpine, cevimeline.
Lab results of Juvenile RA (JRA)?
Negative RF (seronegative).
What are three types of JRA?
Polyarticular, pauciarticular, still's disease.
What is still's disease?
JRA presents as infectious disease - fever, rash, polyarthritis.
What complication is associated with pauciarticular JRA?
Uveitis (potential for blindness).
Pathology of primary gout?
Inborn error of purine metabolism (HGPRT deficiency in lesch-nyhan).
More common, underexcretion of uric acid (lead poisoning, alcoholism, red meat, beer) -- overproduction of uric acid (treating leukemia, psoriasis).
Clinical conditions associated with gout?
Urate nephropathy, renal stones, hypertension, artery disease, Pb poisoning.
Most commonly affected joint in gout?
Podagra: first metatarsalphalangeal joint.
What initiates attack in acute gout?
Free uric acid crystals ->activate synovial cells ->leukocytes -> C5a -> neutrophils, phagocytose uric acid crystals, repeat.
Lab finings in acute gout?
Hyperuricemia (>7mg/dl men, >6 women), absolute neutrophilic leukocytosis.
What is confirmatory in acute gout?
Aspiration showing negative birefringent crystals.
What is a tophus?
MSU deposits in soft tissue around the joint.
Treatment of acute gout?
Diet modification, NSAIDS, colchicine, corticosteroids if intolerant to other rx.l
Treatment of chronic gout?
Normalize serum uric acid: uricosuric agents for underexcretors (<700mg), allopurinol for overproducer (>900mg).
What is a uricosuric agent?
How does allopurinol work?
Xanthine oxidase inhibitor - Hypoxanthine -> xanthine.
What is CPPD?
Calcium pyrophosphate deposition -- pseudogout.
What is the most common variant of CPPD?
CPPD OA variant: knee most common joint, chondrocalcinosis present.
What are some characteristics of seronegative spondyloarthropathies?
RF negative, HLA-B27, male, sacroiliitis, spondilytis.
What are the types of spondyloarthropathies?
Ankylosing spondylitis, Reiter's syndrome, psoriatic, enteropathic.
How does Ankylosing spondylitis usually start?
Bilateral sacroiliitis with morning stiffness, leads to bamboo spine, kyphosis leads to nonpulmonary restrictive lung disease.
What are some associations with AS?
What is the Schober test?
Evaluates degree of restriction to forward bending.
What is Reiter's syndrome?
Chlamydia trachomatis infection leading to urethritis, conjunctivitis, arthritis.
What is a diagnostic sign for Reiter's syndrome?
Achilles tendon periostitis.
What has sausage shaped DIP joints and "pencil cup deformities"?