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143 Cards in this Set
- Front
- Back
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Autosomal-dominant disease. Failure of longitudinal bone growth --> short limbs. Membranous ossification is not affected --> nomral-sized head.
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Achondroplasia
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What is the pathophys of achondroplasia?
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Impaired cartilage maturation in growth plate caused by fibroblast growth factor receptor (FGFR3) mutation).
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What autosomal dominant pathology has normal head growth but is a common cause of dwarfism?'
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achondroplasia
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True or false: patients with achondroplasia have a normal life span and fertility
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TRUE
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Achondroplasia is associated with what for the parents
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Advanced paternal age
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What is Type I Osteoporosis?
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Postmenopaousal; increased bone resorption due to decreased estrogen levels
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What is Type II Osteoporosis?
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Affects men and women > 70 yrs old.
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What are symptoms of a vertebral crush fracture?
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Acute back pain, loss of height, kyphosis
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What are the treatments for osteoporosis?
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Estrogen and/or calcitonin. In severe cases: bisphosphonates or pulsatile PTH
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Failure of normal bone resorption due to abnormal function of osteoclasts --> thickened, dense bones
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Osteopetrosis (marble bone disease)
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Serum calcium, phosphate, and alkaline phosphatatse levels are what in osteopetrosis
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Normal
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What are some clinical complications of osteopetrosis? What do x-rays show?
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Decreased marrow space leads to anemia, thrombocytopenia, infection. Genetic deficiency of carbonic anhydrase II. X-rays show "Erlenmeyer flask" bones that flare out. Can result in cranial nerve impingement and palsies due to narrowed foramina
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What causes decrease of serum phosphate levels in osteomalacia?
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Vit D deficiency --> dec calcium levels --> Inc secretion of PTH and dec. serum phosphate
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Caused by hyperparathyroidism. Characterized by "brown tumors" (cystic space lined by osteoclasts, filled with fibrous stroma and sometimes blood). High serum calcium, low serum phosphorus, and high alkaline phosphatase.
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Osteitis fibrosa cystica
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What are some features of osteitis fibrosa cystica?
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Caused by hyperparathyroidism. Characterized by "brown tumors" (cystic space lined by osteoclasts, filled with fibrous stroma and sometimes blood). High serum calcium, low serum phosphorus, and high alkaline phosphatase.
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What is the pathophysiology of Paget's disease? What are the serum levels of Ca, phosphorus, PTH, and ALP like?
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Abnormal bone architecture caused by increase in both osteoblastic and osteoclastic activity. Nomral Ca, phosphorus, and PTH. Increased ALP.
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What kind of bone pattern and fractures are seen in Paget's disease?
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Mosaic bone pattern; long bone chalk-stick fractures
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What can cause high output CHF in Paget's and what can Paget's lead to?
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Increased blood flow from inc. arteriovenous shunts. Can lead to osteogenic sarcoma
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What are the lab values of Ca+, Phosphate, ALP, and PTH in osteoporosis and osteopetrosis?
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All normal
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What are the lab values of Ca+, Phosphate, ALP, PTH in osteomalacia, osteitis fibrosa cystica, and Paget's disease?
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Osteomalacia: Dec Ca2+, Dec phosphate, Inc. PTH. Osteitis fibrosa cystica: Inc. Ca2+, Dec. phosphate, Inc. ALP, Inc. PTH. Paget's: Inc. ALP only
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Bone is replaced by fibroblasts, collagen, and irregular bony trabeculae affecting many bones
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Polyostotic fibrous dysplasia
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What is polyostotic fibrous dysplasia?
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Bone is replaced by fibroblasts, collagen, and irregular bony trabeculae affecting many bones
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What is McCune-Albright syndrome?
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Form of polyostotic fibrous dysplasia characterized by multiple unilateral bone lesions associatedw ith endocrine abnormalities (precocious puberty) and unilateral pigmented skin lesions (cafe au lait spots)
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Form of polyostotic fibrous dysplasia characterized by multiple unilateral bone lesions associatedw ith endocrine abnormalities (precocious puberty) and unilateral pigmented skin lesions (cafe au lait spots)
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McCune-Albright syndrome
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Name the six common benign bone tumors
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Osteoma, Osteoid osteoma, Osteoblastoma, Giant cell tumor (osteoclastoma), Osteochondroma (exostosis), Enchondroma
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What are some features of osteomas?
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Associated with Gardner's polyposis syndrome. New piece of bone grows on another piece of bone, often in the skull
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Bone tumor ssociated with Gardner's polyposis syndrome. New piece of bone grows on another piece of bone, often in the skull
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Osteoma
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What are the pathologic features of osteoid osteoma and what is commonly seen on xray?
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Interlacing trabeculae of woven bone surrounded by osteoblasts. Xray: radiolucent nidus surrounded by sclerotic bone
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What is the typical size of osteoid osteomas and where are they typically found?
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<2 cm and found in proximal tibia and femur
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Who are osteoid osteomas typically found in?
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Men less than 25 yrs old
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What is a typical clinical feature of osteoid osteomas?
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Nocturnal pain alleviated by NSAID/aspirin
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What are the features of osteoblastomas?
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Same morphologically as osteoid osteoma but larger and found in vertebral column
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Bone tumor that is same morphologically as osteoid osteoma but larger and found in vertebral column
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Osteoblastoma
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Where are giant cell bone tumors typically located?
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Epiphyseal end of long bones
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What are the characteristics of giant cell tumors?
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Reactive multinucleated giant cells resembling osteoclasts and neoplastic mononuclear cells
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Bone tumor that typically occurs in females 20-40 years old
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Giant cell tumor
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Bone tumor with characteristic "double bubble" or "soap bubble" appearance on x-ray
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Giant cell tumor
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Bone tumor that typically arise in epiphyseal ends of long bones
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Giant cell tumor
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What is another name for a osteochondroma?
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Exostosis
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What is the most common benign bone tumor?
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Osteochondroma
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What are the characteristics of an osteochondroma?
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Outgrowth of bone (exostosis) capped by benign cartilage
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Where do osteochondromas commonly arise from and do they commonly transform to malignant chondrosarcomas?
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Commonly origniate from long metaphysis. Rare malignant transformation
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Who does osteochondromas tpically arise in?
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Men < 25 yrs old
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What are the features of enchondromas and where are they typically located?
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Benign cartilagenous neoplasm found in intramedullary bone. Usually in distal extreemities like hands and feet (vs. chondrosarcoma)
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Name the three common malignant tumors of the bone
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Osteosarcoma (osteogenic sarcoma), Ewing's sarcoma, Chondrosarcoma
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What is the second most common malignant tumor of bone? What is the first most common?
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Osteosarcoma; Multiple myeloma
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Who is osteosarcoma must common in?
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Men 10-20 years old
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What are predisposing factors to osteosarcoma?
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Paget's disease, bone infarcts, radiation, and familial retinoblastoma
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What is typically seen in x-rays with osteosarcoma?
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Codman's triangle (tumor lifting periosteum) or sunburst pattern (spiculated pattern from calcified malignant osteoid)
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Where are osteosarcomas typically found?
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Metaphysis of long bones, often around distal femur, proximal tibial region (knee)
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Which malignant bone tumor has poor prognosis and which is responsive to chemo?
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Osteosarcoma: poor prognosis; Ewing's sarcoma: responsive to chemo
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What are some features of Ewing's sarcoma? Who are they most commonly found in?
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Anaplastic small blue cell malignant tumor. Most commonly found in boys < 15. Extremely aggressive with early mets, but responsive to chemo.
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What tumor has a characteristic "onion skin" appearance in bone - periosteal reaction
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Ewing's sarcoma
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Where do ewing's sarcomas typicaly appear?
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Diaphysis of long bones, pelvis, scapula, and ribs
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t(11,22)
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Ewing's tumor
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What is the name of a malignant cartilaginous tumor most common in men aged 30-60?
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Chondrosarcoma
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Where are chondrosarcomas typically located in?
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Pelvis, spine, scapula, humerus, tibia, or femur.
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Where can chondrosarcomas origniate form?
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Primary tumor or from osteochondroma
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What cartilaginous tumor is an expansile glistening mass within the medullary cavity?
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Chondrosarcoma
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Name the benign and malignant tumors located in the diaphysis
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Benign: osteoid osteoma. Malignant: Ewing's sarcoma
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Name the benign and malignant bone tumors located in the metaphysis
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Benign: osteochondroma. Malignant: osteosarcoma
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Name the benign and malignant bone tumors located in the intramedullary section of the bone
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Benign: enchondroma Malignant: chondrosarcoma
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What is the pathophysiology of osteoarthritis
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Mechanical - wear and tear of joints leads to destruction of articular cartilage
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What are some features of osteoarthritis?
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Subchondral cysts, sclerosis, osteophytes (bone spurs). eburnation (polished, ivory-like appearance of bone), Heberden's nodes (DIP) and Bouchard's nodes (PIP)
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Predisposing factors to osteoarthritis
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Age, obesity, joint deformity
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OA: INflammatory or noninflammatory?
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Noninflammatory
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OA in knee begins on what sidE?
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Medial aspect (bowlegged)
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What is Felty's syndrome?
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Autoimmune neutropenia, splenomegaly, RA
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What is a pannus in RA?
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Chronically inflammed synovial tissue that proliferates and releases CKs that destroy articular cartilage
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What are some characteristic findings of RA?
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Subcutaneous rheumatoid nodules, ulnar deviation, subluxation, Baker's cyst (behind the knee), No DIP involvement
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What HLA does RA have a strong association with?
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HLA-DR4
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What is rheumatoid factor?
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Anti-IgG antibody. 80% of RA patients have positive rheumatoid factor.
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What is the classical presentation of RA?
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Morning stiffness improving with use, symmetric joint invovlement, systemic symptoms( fever, fatigue, pleuritis, pericaridtis)
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What are some systemic associated findings of RA
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Lung diisease: chronic pleuritis with effusion, interstitial fibrosis. Anemia of chronic disease. Carpal tunnel syndrome. Vasculitis, aortitis, pericarditis. Felty's syndrome (autoimmune neutropenia and splenomegaly and RA)
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What is the classic triad of Sjogren's syndrome.
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1. Xerophthalmia (dry eyes, conjunctivitis, "sand in my eyes" 2. Xerostomia (dry mouth, dysphagia) 3. Arthritis
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What is enlarged in Sjogren's syndrome?
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Parotid gland
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What is a patient with Sjogren's syndrome at increased risk for?
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B cell lymphoma, dental caries
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Autoantibodiies to what are found in Sjogren's?
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Ribonucleoprotein antigens, SS-A (Ro) and SS-B (La)
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Who does Sjogren's syndrome predominantly affect?
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Females between 40 and 60.
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What is the Sicca syndrome?
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Dry eyes, dry mouth, nasal and vaginal dryness, chronic bronchitis, reflux esophagitis. no arthritis.
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What are soem classic characteristics of gout
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Asymmetric joint distribution. Swollen, red, painful joint. Classic manifestation: painful MTP joint of the big toe - podagra. Tophus formation often on external ear or Achilles tendon
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Where do tophi typically form in gout
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External ear or achilles tendon
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When do acute attacks of gout typically occur? Why?
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After a large meal or alcohol consumption (alcohol metabolites compete for same excretion sites in kidney as uric acid, causing decreased uric acid secretion and buildup in blood)
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What type of crystals are found in gout?
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Monosodium urate
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What are some common causes of hyperuricemia that cause gout?
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Lesch-Nyhan syndrome, PRPP (phosphoriribosylpyrophosphate) excess, decreased excretion of uric acid (thiazide diuretics), Increased cell turnover, or von Gierke's disease.
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What are the characteristics of the monosodium urate crystals in gout?
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Needle shaped and negatively birefringement = yellow crystals under parallel light.
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Gout: more common in men or female
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Men
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What are the treatments for gout?
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Colchicine, NSAIDs (indomethacin), probenecid, allopurinol
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What is probenecid and colchicine used for?
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Gout treatment
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What is psuedogout caused by?
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Deposition of calcium pyrophosphate cyrstals within the joint space.
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Describe the crystals found in pseudogout
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Basophilic, rhomboid crystals that are weakly positively birefringent.
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What type of joints does pseudogout typically affect?
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Large joints (classically knee)
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Describe color changes when different light hits gout or pseudogout crystals
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Gout: yellow when parallel to light, blue when perpendicular to light. Pseudogout: yellow when perpendicular, blue when parallel to light
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What are the common organisms that cause septic arthritis?
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Most common: S. aureus. Also Strept and neisseria gonorrhoeae
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How does gonococcal arthritis present as?
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Monoarticular, migratory arthritis with an asymmetrical pattern. A
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What organisms cause chronic infectious arthritis?
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TB (mycobacterial dissemination), Lyme disease
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What three disease are associated with HLA-B27
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Ankylosing spondylitis, Reiter's syndrome (reactive arthritis), Psoriatic arthritis
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What is ankylosing spondylits and what are its clinical findings?
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Seronegative spondyloarthropathy (without rheumatoid factor). Chronic inflammatory disease of spine and sacroiliac joints leading to ankylosis (stiff spine due to fusion of joints), uveitis, and aortic regurgitation
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What is the classic triad found in Reiter's syndrome?
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1. Conjunctivitis and anterior uveitis. 2. urethritis 3. arthritis
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Reiter's syndrome typically occurs after what?
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Post GI or chlamydial infections
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Joint pain and stiffness associatedw ith psoriasis. Asymmetric. Dactylitis "sausage fingers" "pencil-in cup" deformity on x-ray
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Psoriatic arthritis
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Describe the features of psoriatic arthritis. What is seen on x-ray?
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Joint pain and stiffness associatedw ith psoriasis. Asymmetric. Dactylitis "sausage fingers" "pencil-in cup" deformity on x-ray
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What are some common sx of SLE?
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Fever, fatigue, weight loss, nonbacterial verrucous endocarditis, hilar adenopathy, and Raynaud's
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What kind of renal lesions are found in SLE?
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Wire loop leasions in kidneys with immune complex deposition (nephrotic syndroem)
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What do SLE patients die from
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Infection and renal failure
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What test does SLE give false positives for?
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VDRL syphillis test becasuse test detects antiphospholipid antiboides, which cross reac with cardiolipin used in tests
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Whtat are the four types of antibodies that are found in SLE? What are their significances?
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1. Antinuclear (ANA) - sensitive, but not specific for SLE. 2. Ab to double stranded DNA (anti-dsDNA) - very specific, poor prognosis 3. Anti-Smith antibodies (anti-Sm) - very specific, but not prognostic 4. Antihistone antibodies - drug induced lupus
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Antihistone antibodies significance
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Drug induced lupus
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In what 8 autoimmune diseases are positive antinuclear antibodies found in?
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SLE, Sjogren's(and sicca), scleroderma, polymyositis, dermatomyositis, rheumatoid arthritis, juvenile arthritis, and mixed connective tissue disease.
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What is sarcoidosis characterized by?
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Immune-mediated, widespread noncaseating granulomas and elevated serum ACE
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What clinical findings is sarcoidosis associated with?
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Restrictive lung disease, bilateral hilar lymphadenopathy, erythema nodosum, Bell's palsy, epithelial granulomas containing microscopic Schaumann and asteroid bodies, uveoparotitis, and hypercalcemia (from elevated conversion of vit D to active form in epithelioid macrophages)
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What do epithelial granulomas in sarcoidosis contain
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microscopic Schaumann and asteroid bodies
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What is the treatment for sarcoidosis?
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Steroids
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What does I'M DAMN SHARP for SLE stand for?
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Immunoglobulins (anti-dsDNA, anti-Sm, antiphospholipid), Malar rash, Discoid rash, Antinuclear antibody, Mucositis (oropharyngeal ulcers), Neurologic disorders, Serositis (pleuritis, pericarditis), Hematologic disorders, Arthritis, Renal disorders, photosensitivity
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What are some features of polymyalgia rheumatica?
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Pain and stiffness in shoulders and hips, often with fever, malaise, and weight loss. Does NOT cause muscular weakness.
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What vascular condition is polymyalgia rheumatica associated with?
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Temporal (giant cell) arteritis
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What patient group is polymyalgia rheumatica associated with?
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>50 yrs age
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What lab findings are associated with polymyalgia rheumatica
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Inc. ESR, normal CK
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What is the tx for polymyalgia rheumatica?
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Prednisone
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What is diagnostic for polymyositis?
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Muscle biopsy with evidence of inflammation is dx
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What is seen histologically with the muscle in polymyositis?
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scattered fibers show necrosis, degradation, and regeneration. Nuclei located deep in myofibrils
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Progressive symmetric proximal muscle weakness caused by CD8+ T-cell induced injury to myofibers. Most often involves shoulders.
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Polymyositis
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What muscle group does polymyositis most often involve?
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Shoulders
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Where is a heliotrope rash found and what MS condition is it associated with?
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Around eyes; Dermatomyositis
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What are the clinical features of dermatomyositis?
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Similar to polymyositis, but also involves malar rash (similar to SLE), heliotrope rash, "shawl and face" rash, Gottron's papules (violet), increased risk of malignancy
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What are the lab findings in polymyositis and dermatomyositis?
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Inc. serum CK, Inc. serum aldolase, positive ANA (<30%), anti-Jo-1
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What is the treatment for polymyositis/dermatomyositis?
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Steroids
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What are some clinical findings of myasthenia gravis?
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Ptosis, diplopia, and general weakness
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What tumor is myasthenia gravis associated with
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Thymoma
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Do sx improve or worsen with muscle use in myasthenia gravis and Lambert-Eaton
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Myasthenia gravis: worsen with muscle use. Lambert-Eaton: improve with muscle use
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What is the pathophysiology of Lambert-Eaton syndorme?
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Autoantibodies to presynaptic Ca2+ channel results in decreased ACh release leading to proximal muscle weakness.
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Which disease has reversal with AChE inhibitors? Myasthenia gravis or Lambert-Eaton
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Myasthenia gravis
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Which is associated with paraneoplastic diseases (small cell lung cancer): Myasthenia gravis or Lambert-Eaton
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Lambert-Eaton
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What are the clinical findings in mixed connective tissue disease?
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Raynaud's, arthralgias, myalgias, fatigue, and esophageal hypomotility.
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Raynaud's, arthralgias, myalgias, fatigue, and esophageal hypomotility. Antibodies to U1RNP.
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Mixed connective tissue disease
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Anti-Scl-70 Ab. What disease is it associated with and what does it target?
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Diffuse Scleroderma: anti-DNA topoisomerase I antibody
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What is the pathophysiology of scleroderma?
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Excessive fibrosis and collagen deposition throughout the body
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Parchment like skin, dystrophic calcification in subcutaneous, tightened facial features like radial furrowing around lips
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Skin manifestations of scleroderma
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What are the two different classifications of scleroderma? Which is worse and what is its clinical presentation?
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Diffuse scleroderma - widespread skin involvement, rapid progression, early visceral involvement ASsociated with anti-Scl-70 Ab. CREST syndrome - more benign course
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What is the CREST syndrome, what parts of the body does it affect, and what antibody is it associated with?
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Calcinosis, Raynaud's, Esophageal dysmotility, Sclerodactyly, and Telangiectasia. Anti-centromere antibody. Limited skin involvement, often confined to fingers and face.
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Soft, well-encapsulated fat tumor. Benign. Simple excision usually curative.
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Lipoma
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Malignant fat tumor that can be quite large. Will recur unless adequately excised.
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Liposarcoma
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Most common soft tissue tumor of childhood. Malignant. Arises from skeletal muscle, most often in head/neck.
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Rhabdomyosarcoma
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