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83 Cards in this Set
- Front
- Back
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What is Achondroplasia and what mutation causes its formation?
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Most common form of inherited dwarfism.
Autosomal dominant mutation in Fibroblast Growth Factor Receptor 3 (FGFR3) |
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What does activation of FGFR3 cause in bones?
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Inhibits cartilage synthesis at the epiphyseal growth plate.
Results in decreased endochondral bone formation and premature ossification of the growth plates in long bones. |
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What are the long-term effects of Achondroplasia, and what is the effect on long-term survival?
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Long bones will be short and thick -> dwarfism
Cranial bones and trunk are spared, causing a relatively large head/trunk Normal intelligence, life span, and reproductive ability Tyrion Lannister. |
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What are some clinical findings of Osteogenesis Imperfecta?
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Brittle bones (Generalized Osteopenia) resulting in frequent fractures
Thin sclera w/ blue hue Hypermobility Can involve middle ear -> deafness May have dentinogenesis imperfecta - small, fragile, discolored teeth from lack of Dentin Dermins may be thin, susceptible to bruising |
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What causes Osteogenesis Imperfecta?
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Hereditary defect: Abnormal synthesis of Type I collagen
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What is the most severe type of OGI, and what is the least severe?
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Type II is the most severe
Infants stillborn or die shortly after birth Type I is the least severe Possible hearing loss, fractures, blue sclera, and little progression after puberty. |
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What is the definiteion of Osteopetrosis?
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Hereditary defect
decreased osteoclast function, leads to decreased resorption and thick sclerotic bones (but fracture easily) |
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What are some of the pathological findings for Osteopetrosis?
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Increased bone density
Thick bone cortex Bones thick, but fracture easily Displaces the bone marrow, so can cause pancytopenia (low overall blood count) Extramedullary hematopoiesis cranial nerve compression Due to narrowing of cranial foramina blindness, deafness, facial nerve palsies Hydrocephalus due to obstruction of CSF |
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What are some radiographic findings for Osteopetrosis?
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Symmetrical generalized osteosclerosis
Long bones mat have a broadened metaphyses, resulting in an ERLENMEYER FLASK SHAPED DEFORMITY |
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What are the major clinical forms of Osteopetrosis, and what do they entail?
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Autosomal recessive (malignant type)
infants and children multiple fractures early death due to anemia, infection, hemorrhage autosomal dominant (benign type) Adults mild anemia cranial nerve impingement Carbonic Anhydrase II deficiency autosomal recessive renal tubuilar acidosis and cerebral calcification |
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What is one treatment that can be used to treat Osteopetrosis?
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Bone marrow transplant
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What is Paget Disease?
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Localized disorder of bone remodeling, results in excessive bone resorption followed by disorganized bone replacement
Produced thick but weak bone susceptible to deformity and fracture |
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What groups are most susceptible to Paget Disease?
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Begins after age 40
Common in European ancestry. |
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What are two possible causes for Paget?
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slow virus infection with paramyxovirus
possible genetic predisposition |
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Name the three stages of Paget, and the main characteristic of each one
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Osteolytic - Osteoclastic activity predominates
Mixed osteolytic - Osteoblastic Osteosclerotic - Osteoblastic activity predominates "burnout stage" |
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What are the levels of involvement for Paget's, and what are the most common sites?
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Monostotic - one bone (15%)
Polystotic - more than one bone (85%) Skull, pelvis, femur, vertebrae |
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A micro slide of bone from a patient with Paget's would most likely show what pattern?
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haphazard arrangement of cement lines, creating a "MOSAIC PATTERN" of lamellar bone.
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What features do you usually see in patients with Paget's involving the skull?
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Increased head size
Foraminal narrowing causing cranial nerve palsies, including deafness involvement of facial bones may produce lionlike facies. |
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What are some otehr clinical features you would see in a patient with Paget's?
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usually asymptomatic
bone pain and deformity fractures warmth to overlying skin due to hypervascularity X-Rays would show bone enlargement with lytic and sclerotic areas. |
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What are the typical lab values of Paget's?
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High elevated serum alkaline phosphatase
increased urinary hydroxyproline |
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What are some other complications in Paget's?
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AV shunts within bone marrow may cause high-output cardiac failure
Osteosarcoma Other sarcomas |
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Definition of osteoporosis.
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decreased bone mass resulting in thin, fragile bones susceptible to fracture
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What are the most effected groups for osteoporosis?
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Most common bone disorder in US
Commonly occurs in postmenopausal causasian women and the elderly |
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What are some primary causes of Osteoporosis?
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Estrogen deficiency
genetic factors (low density of original bone) lack of exercise old age nutritional factors |
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What are some secondary causes of Osteoporosis?
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Immobalization
Endocrinopathies (cushing dz) malnutrition (vitamin deficiencies C, D, calcium) corticosteroids genetic dz (OGI, Gaucher) |
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How could a pt typically present with Osteoporosis?
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Bone pain and ractures
loss of height and kyphosis weight bearing bones susceptible to fractures Vertebrae Femoral neck distal radius |
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What are the radiographic, lab, and micro findings for Osteoporosis?
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X-Ray: general radiolucency of bone
Lab - Normal calcium, phosphorus, alkaline phosphatase. Micro: thinned cortical and trabecular bone |
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How might Osteoporosis be treated?
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Estrogen-replacement therapy
Calcitonin weight-bearing exercise |
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Definition and cause of Osteomalicia/Ricketts?
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Decreased mineralization of newly formed bone, cause by deficiency or bad metabolism of Vit D.
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What is the etiology of Osteomalacia/Rickets?
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Dietary deficiency of Vit. D
Intestinal malabsorption lack of sunlight renal and liver dz |
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Describe Rickets in younger pts.
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Occurs prior to closure of the epiphyses
Both remodeled bone and bone formed at the growth plate are under-mineralized. Endochondral bone formation is affected, leading to deformities skull deformities Rachitic Rosary - deformity of the chest wall as a result of an overgrowth of cartilage @ costochondral junction pectus carinatum lumbar lordosis BOWING OF LEGS - curvature of femur/tibia due to weight bearing. Fractures may also occur |
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Describe osteomalacia in adults
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Impaired mineralization of the osteoid matrix results in thin, fragile bones that are susceptible to fracture.
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What are the clinical findings, lab findings, and radiographic findings for Osteomalacia in adults?
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Bone Pain, fractures of vertebrae, hip, wrist
X-Ray shows diffuse radiolucency of bone Labs show low serum calcium and phosphorus, high alkaline phosphatase |
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What are the routes of infection in osteomyelitis?
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Hetatogenous spread
Most common Seeding of bone after bacteremia commonly effects metaphysis Direct innoculation Spread from an adjacent site |
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What organisms aremost commonly responsible for Osteomyelitis?
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S. aureus (most common)
E. Coli Streptococci Gonococci H. influenzae Salmonella (sickle cell disease) Pseudomonas (IV drug users, diabetics) |
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Clinical features of Osteomyelitis?
X-Ray findings? |
Fever and leukocytosis
Localized pain, erythema, swelling X-Ray normal for first two weeks, then may show periosteal elevation Lytic focus w/ surrounding sclerosis |
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What are some pathological findings in pts with Osteomyelitis?
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Suppurative inflamm.
vascular insufficiency ischemic necrosis of bone Sequestrum - necrotic bone Involucrum - new bone around sequestrum |
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How is a diagnosis of Osteomyelitis made, and how is it treated?
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Blood cultures and bone biopsy/culture
Antibiotics and surgical treatment |
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What are some possible complication of Osteomyelitis?
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Fracture
Intraosseous (brodie) abscess amyloidosis sinus tract formation squamous cell carcinoma@ site of persistent draining sinus Osteogenic sarcoma (rare) |
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What are some common features of Tuberculous Osteomyelitis?
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1% of cases of TB
Pain/tenderness, fever, night sweats, weight loss caseating granulomas w/ extensive destruction of bones common sites: Thoracic and Lumbar spines (Pott Disease) |
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What are some compications of TB Osteomyelitis?
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Vertebral compression fracture
psoas abscess amyloidosis |
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What is Avascular necrosis, and what are some other names for it?
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Asceptic necrosis, osteonecrosis
Ischemic necrosis of bone and bone marrow. |
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What are some causes of Avascular Necrosis?
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Trauma/fracture (most common)
idiopathic steroids sickle cell anemia gaucher dz caisson dz |
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Complication of Avascular Necrosis?
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Osteoarthritis and fractures
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What is Osteitis fibrosa cystica?
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excessive parathyroid hormone causing osteoclast activation and generalized bone resorption.
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What is the etiology of Osteitis fibrosa cystica?
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parathyroid adenoma
PT Hyperplasia |
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What are some clinical findings for Osteitis fibrosa cystica?
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Occurs commonly in primary hyperparathyroidism
may cause bone pain, bone deformities, and fractures |
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What are some pathological findings for Osteitis fibrosa cystica?
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Excess bone resorption w/ increased osteoclasts
fibrous replacement of marrow cystic spaces in trabecular bone "brown tumors" produced by cystic enlargement of bones |
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How is Osteitis fibrosa cystica treated?
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Treat the hyperparathyroidism
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How do patients typically present when effected by Hypertrophic osteoarthropathy?
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painful swelling of wrists, fingers, ankles, knees, or elbows
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What are some pathological findings for Hypertrophic Osteoarthropathy?
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Ends of long bones have periosteal new bone formation
digital clubbing arthritis of adjacent joints commonly seen |
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What is the etiology of Hypertrophic Osteoarthropathy?
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Bronchogenic carcinoma (paraneoplastic syndrome)
chronic lung diseases cyanotic congenital heart disease IBD |
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What is the preferred treatment for Hypertrophic Osteoarthropathy?
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Treat the underlying condition
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Define Osteoma.
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BENIGN neiplasm that frequently involves the skull and facial bones
Hyperostosis Frontalis interna describes an osteoma that extends into the orbit or sinus Associated with Gardner Syndrome |
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What is an Osteoid Osteoma?
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BENIGN, painful growth of diaphysis of a long bone, often the tibia or femur
Males > females, 5-25 PAIN WORSE AT NIGHT, better w/ aspirin |
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What is teh radiographic finding you would see with an Osteoid Osteoma?
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Central radiolucency surounded by sclerotic rim.
(I think of it as a crater appearance) |
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What are some Micro findings with Osteoid Osteoma?
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Small (<2cm) lesion of the cortex
central nidus of osteoid surrounded by dense rim of reactive cortical bone |
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What is an osteoblastoma?
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Same as Osteoid Osteoma, but > 2cm in size, and often in vertebrae.
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Define Osteochondroma.
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BENIGN bony metaphyseal growths capped WITH CARTILAGE that originates from epiphyseal growth plate
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What is the clinical presentations of an Osteochondroma?
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Adolescent males
firm, solitary growths at END OF LONG BONES May be asymptomatic, cause pain, produce deformity, or undergo malignant transformation (rare) Osteochondromatosis Multiple, often symmetric osteochondromas. |
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What is an endochondroma?
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BENIGN cartilagenous growth within the medullary cavity of bone, usu involving the hands and feet
Typically solitary and asymptomatic and require no treatment |
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What is Ollier Disease, and what are its characteristics?
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Multiple endochondromas.
Nonhereditary syndrome multiple endochondromas on hands and feet. presents with pain and fractures may undergo malignant transformation to chondrosarcoma |
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What is maffucci syndrome?
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Multiple endochondromas
soft tissue hemangiomas increased risk of malignant transformation, ovarian carcinoma, and brain gliomas. |
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What is an osteosarcome and what are its characteristics?
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Most common primay malignant tumorof bone
Males more than females ages 10-25 ptsw/ familial retinoblastoma |
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What are some clinical features of an osteosarcoma?
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Localized pain and swelling
X-ray will show Codman's triangle (periosteal elevation), sunburst pattern, bone destruction |
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What are some gross findings seen with an osteosarcoma?
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metaphysis of long bones
usually around the knee large, firm, white-tan mass with necrosis and hemorrhage. |
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What are some micro features in an osteosarcoma?
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anaplastic cells producing osteoid and bone
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What is the treatment plan for an osteosarcoma, and what is the prognosis?
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surgery and chemotherapy
Poor prognosis hematagenous spread to lung is common prognosis improved w/ aggressive management such as resecting single pulmonary metastases. |
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What other diseases are secondary osteosarcomas assoc. with?
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Paget, irradiation, chronic osteomyelitis.
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What is a chondrosarcoma?
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malignant tumor of chondroblasts
affects males moreoften, ages 30-60. may arise de novo or secondary to preexisting endochondroma, exostosis, or Paget. |
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What is the typical clinical presentation of a Chondrosarcoma?
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enlarging mass with pain and swelling
typically involves pelvic bones, spine, and shoulder girdle |
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What are some micro features you would find in Chondrosarcoma?
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composed of atypical chondrocytes and chondroblasts, often with multiple nuclei in a lacuna.
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Define Giant-cell tumor of bone (osteoclastoma)
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uncommon MALIGNANT neoplasm containing multinucleated giant cells admixed with stromal cells.
Females > males, 20-50. |
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Clinical and radiographic findings for Osteoclastoma?
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bulky mass with pain and fractures
X-Ray: Expanding lytic lesion surrounded by a thin rim of bone may have a soap bubble appearance. |
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Gross and micro features of an Osteoclastoma?
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epiphyses of long bones
usually around the knee red-crown appearance with cystic degeneration Micro: multiple osteoclast-like giant cells within a background of mononuclear stromal cells |
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What is a preferred treatment for Osteoclastomas?
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Surgery (currettage or en bloc resection)
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What is Ewing syndrome?
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malignant neoplasm of undifferentiated cells arising arising within the marrow cavity
Incidence: Males more than females. age 5-20 |
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What are some clinical features of Ewing Syndrome?
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Pain, swelling, tenderness
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What is the genetic etiology of Ewing syndrome?
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classic translocation t(11;22), which produces the EWS-FLI1 fusion protein
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What are some X-Ray finding seen in Ewing Syndrome?
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"onion skin" layering of new periosteal bone.
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What are some gross and Micro features of Ewing Syndrome?
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Gross:
often diaphysis of bone common on femur, pelvis, tibia. white-tan mass with necrosis and hamorrhage Micro: Sheets of undifferentiated small round blue cells resembling lymphocytes HOMER WRIGHT PSEUDOROSETTES tumor cells erode through the cortex and periosteum and invade surrounding tissues |
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Treatment/Prognosis of Ewing Syndrome?
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Chemotherapy, surgery, radiation
5-year survival rate is 75% |
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What are some characteristic of metastases to bone?
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much more common than primary bone tumors
Common primary sites: prostate breast lung thyroid kidney |
