Ch 18 Pathoma - MSK Pathology Flashcards
_____ is impaired cartilage proliferation in the growth plate, due to an activating mutation in the ______. It is autosomal dominant/recessive. Most mutations are inherited/sporadic and related to increased _____.
Achondroplasia; fibroblast growth factor receptor 3 (FGFR3 - overexpression inhibits growth); dominant; sporadic; paternal age
Clinical features of achondroplasia include short ____ with normal-sized ___ and ___, due to poor ____ bone formation. ____ bone formation is not affected. Mental function, life span, and fertility are/are not affected.
extremities; head and chest; endochondral; intramembranous; are not
____ bone formation is characterized by formation of a cartilage matrix, which is then replaced by bone; it is the mechanism by which ____ bones grow.
Endochondral; long
____ bone formation is characterized by formation of bone without a preexisting cartilage matrix; it is the mechanism by which ____ bones grow
Intramembranous; flat (skull and rib cage)
_____ is a congenital defect of bone formation resulting in structurally weak bone. Most commonly due to an autosomal/x-linked, dominant/recessive defect in ____ synthesis. Name the three clinical features
Osteogenesis imperfecta; autosomal dominant; collagen type I; multiple fractures of bone (can mimic child abuse w/o bruising), blue sclera (thinning of scleral collagen shows choroidal veins), hearing loss (bones of middle ear fracture)
_____ is an inherited defect of bone resorption resulting in abnormally thick, heavy bone that fractures easily. Due to poor ___ function. ____ mutation leads to loss of acidic microenvironment needed for bone resorption (removing calcium). Tx is ___.
Osteopetrosis; osteoclast; Carbonic anydrase II; bone marrow transplant (b/c osteoclasts are derived from monocytes)
Name the five clinical features of osteopetrosis
bone fracture (b/c no proper bone remodeling due to osteoclasts dysfunction); anemia, thrombocytopenia and leukopenia with extra medullary hematopoiesis; vision/hearing impairment (impingement on CNs); hydrocephalus (narrowing of foramen magnum); renal tubular acidosis (lack of carbonic anhydrase > dec tubular reabsorption of HCO3-)
___ and ___ cause defective mineralization of osteoid due to a ____ deficiency. Which one is seen in adults and which one in kids
Rickets; osteomalacia; vitamin D
(osteoid produced by osteoblasts is normally mineralized with calcium and phosphate to form bone). Rickets in kids; osteomalacia in adults
Vitamin D is derived from skin upon exposure to ___ and from ___. Activation requires _____ by the liver, followed by ___ by the PCT cells of the kidney. Vitamin D raises serum ___ and ___ by acting on intestine, kidney, and bone (mechanism)
sunlight (85%), diet (15%); 25-hydroxylation; 1-alpha-hydroxylation; calcium; phosphate; intestine: inc absorption; kidney: inc reabsorption; bone: inc resorption
Osteomalacia results in ___ bone with an increased risk of ___. Labs include low ___ and ___ and high ___ and ___.
weak; fractures (esp in weight bearing bones: vertebral bodies or hip); calcium, phosphate; PTH, alk phos (needed to create an alkaline environment to lay down calcium on bone)
_____ is a reduction in trabecular bone mass, which results in ___ bone with increased risk for fracture. Risk of it is based on ____ and ___ that follows thereafter. Most common forms are __ and __
Osteoporosis; porous; peak bone mass; rate of bone loss; senile; postmenopausal
Peak bone mass is achieved by ___ years of age and is based on these three things. Thereafter, slightly less than __% of bone mass is lost each year; lost more quickly with these three things.
30; genetics (vit D receptor variants); diet; exercise; 1; lack of weight bearing exercise (space travel); poor diet; decreased estrogen (menopause)
Name the the clinical feature of osteoporosis. Bone density can be measured using ___. Tx includes __, __, and __ to limit bone loss, __ to induced apoptosis of osteoclasts. ___ are contraindicated, and ___ would in theory be helpful but not recommended.
Bone pain/fractures (in weight bearing areas like vertebrae, hip, distal radius - height loss, kyphosis); DEXA scan; exercise, vit D, calcium; bisphosphonates; glucocorticoids; estrogen replacement therapy
How can you tell apart osteomalacia and osteoporosis?
In osteomalacia, you have decreased calcium and phosphate and increased PTH and alk phos; in osteoporosis labs are normal
____ is an imbalance between osteoclast and osteoblast function usually seen in late adulthood (>60). It’s etiology is unknown though it is possibly ___. It involves one or more bone/entire skeleton. Tx includes ___ to inhibit osteoclast function and ___ to cause osteoclast apoptosis.
Paget disease of bone; viral; one or more; calcitonin; bisphosphonates
Name the 3 distinct stages of Paget disease of bone. The end result is __, __ bone that ___ easily. Bx reveals a ___ pattern of lamellar bone.
1) osteoclastic; 2) mixed osteoblastic-osteoclastic; 3) osteoblastic; thick, sclerotic; fractures; mosaic
Name the five clinical features of Paget disease of bone. Name the two complications.
1) bone pain (due to micro fractures); 2) increasing hat size; 3) hearing loss (impingement on CN); 4) lion like facies (craniofacial bones); 5) isolated elevated alkaline phosphatase; high output cardiac failure (due to AV shunts in bone); Osteosarcoma (blasts are going cray)
____ is an infection of marrow and bone; it usually occurs in ____. Most commonly ____; arises via hematogenous spread. _____ bacteremia (children) seeds ___. _____ bacteremia (adults) seeds ___. Dx is made by ____.
Osteomyelitis; children; bacterial; transient; metaphysis; open wound; epiphysis; blood culture
Causes of osteomyelitis; most common, seen in sexually active, seen in sickle cell dx, seen in diabetics/IV drug abusers; associated with cat/dog bite; involves vertebrae (Pott dx)
staph aureus; N gonorrhoeae; salmonella; pseudomonas; pasteurella; mycobacterium tuberculosis
Clinical features of osteomyelitis include __ pain with ___ signs of infxn; and a ___ surrounded by ___ of bone on X-ray
bone; systemic (fever, leukocytosis); lytic focus (abscess); sclerosis (lytic focus is called sequestrum and sclerosis is called involucrum)
Avascular (aseptic) necrosis is _____ necrosis of bone and bone marrow. Name five causes. ___ and ___ are major complications
ischemic; trauma, fracture (most common), steroids, sickle cell anemia, cassion disease; osteoarthritis; fracture
____ is a benign tumor of bone. It is most commonly found on the surface of ____. It is associated with ___ syndrome.
Osteoma; facial bones; Gardner (familial adenomatous polyposis, fibromatosis, and osteoma of facial bones)
____ is a benign tumor of osteoblasts (that produce osteoid) surrounded by a rim of reactive bone. Occurs in __ years of age (more commonly females/males), arises in ___ of ___ bones. Presents as bone pain that resolves with ___.
Osteoid osteoma; less than 25; males; cortex; long; aspirin
Osteoblastoma vs Osteoid osteoma
Which one is >2 cm? Which one arises in vertebrae vs long bones? In which one does bone pain respond to aspirin?
Osteoblastoma; osteoblastoma; osteoid osteoma; osteoid osteoma
___ is a malignant proliferation of osteoblasts. It’s peak incidence is seen in ____ and less commonly also seen in ___. It arises in ___ of long bones (usually the distal femur or proximal tibia).
Osteosarcoma; teenagers; elderly; metaphysis
Name three risk factors of osteosarcoma
familial retinoblastoma; Paget disease; radiation exposure
Osteosarcoma presents as a ___ or ___ with swelling. Imaging revealed a destructive mass with a ___ appearance, and lifting of the ____ (known as ____ triangle). Bx reveals ____ cells that produce ____.
pathologic fracture; bone pain; sunburst; periosteum; Codman; pleomorphic (variability in size/shape of nucleus); osteoid
Ewing Sarcoma is malignant proliferation of well/poorly differentiated cells derived from _____. It arises in the ____ of long bones; usually in female/male children/adults. A ____ translocation is characteristic and it often presents locally/with metastases and is responsive/unresponsive to chemo.
poorly; neuroectoderm; diaphysis; male children (less than 15 yrs of age); 11;22; metastasis; responsive
This bone tumor has an onion-skin appearance on X-ray and on bx it reveals small, round blue cells that resemble lymphocytes. It can therefore easily be confused with lymphoma or chronic osteomyeletis.
Ewing Sarcoma
____ is a tumor comprised of multinucleated giant cells and stromal cells. It occurs in ___. It arises in the ____ of long bones (usually the distal femur or proximal tibia).
Giant cell tumor; young adults; epiphysis
On xray, a giant cell tumor has a ___ appearance. It is locally aggressive and may recur.
soap bubble
___ is a benign tumor of cartilage; ___ is a malignant cartilage forming tumor. Both arise in the ___ of bones.
chondroma; chondrosarcoma; medulla
This cartilage tumor arises in the medulla of the pelvis or central skeleton.
Chondrosarcoma
This cartilage tumor arises in the medulla of small bones of the hands and feet
Chondroma
Which is more common, primary bone tumors or bone metastases?
bone metastases
Bone mets usually result in ___ lesions, however prostate carcinoma classically produces ___ lesions.
osteolytic (punched out); osteoblastic lesions
A joint is a _____. ____ joints are tightly connected to provide structural strength. ____ joints have a joint space to allow for motion.
connection btwn two bones; solid; synovial
The articular surface of adjoining bones is made of ____ cartilage (type __) that is surrounded by a ____. Synovium lining the joint capsule secretes fluid rich in ____ to lubricate the joint & facilitate smooth motion
hyaline; II; joint capsule; hyaluronic acid
______ is a progressive degeneration of articular cartilage (aka ____), most often due to ____. Major risk factor is ___ and others include ___ and ___. Classic presentation is ____ in the morning that gets better/worsens during the day.
Degenerative joint disease; osteoarthritis; wear and tear; age (common after 60); obesity; trauma; joint stiffness; worsens (different from RA)
What is the most common types of arthritis?
Osteoarthritis (degenerative joint disease)
Osteoarthritis affects a limited number of joints (oligoarticular), most commonly these 5
hips, lower lumbar spine, knees, DIP joints, PIP joints
Name three pathologic features of degenerative joint disease (osteoarthritis)
1) disruption of cartilage that lines the articular surface (fragments of cartilage are called joint mice); 2) eburnation of the subchondral bone (bony sclerosis that occurs when bone rubs bone); 3) osteophyte formation (reactive bony outgrowths - arises in DIP (heberden nodes) and PIP (bouchard nodes)
The hallmark of rheumatoid arthritis is ___ leading to formation of a ____. These then leads to further destruction of cartilage and ___ (fusion) of the joint
synovitis; pannus (inflamed granulation tissue –> bv’s, fibroblasts, and myofibroblasts that contract and fuse the joint); ankylosis
Rheumatoid arthritis is a chronic, systemic ___ disease that classically arises in middle aged women/men. It is associated with ____. There is symmetric/asymmetric involvement of the joints Name the 5 joints commonly involved.
autoimmune; women; HLA-DR4; symmetric; PIP joints (swan-neck deformity), wrists (radial deviation), elbows, ankles, knees
HLA-DR4 is associated with this disorder
Rheumatoid arthritis
Which type of arthritis presents with joint stiffness in the morning? In which type does it get better with activity?
Osteoarthritis and RA; RA
Name the 6 clinical features of RA
1) morning stiffness, improves with activity; 2) symptoms of inflammatory process (fever, malaise, weight loss, myalgia); 3) rheumatoid nodules (central zone of necrosis surrounded by epithelial histiocytes); 4) vasculitis; 5) baker cyst (swelling of bursa behind knee); 6) pleural effusions, lymph adenopathy, and interstitial lung fibrosis
Laboratory findings for RA will show a ___ autoantibody against __ portion of ___ (rheumatoid factor). It is a marker of tissue damage and disease activity. You can also see ___ and high ___ in synovial fluid.
IgM; Fc; IgG; neutrophils; protein
Complications of rheumatoid arthritis include ___ and ___.
anemia of chronic disease (hepcidin); secondary amyloidosis (SAA –> AA, which deposits in tissues)
_______ are a group of joint disorders characterized by lack of rheumatoid factor, axial skeleton involvement, and a HLA-___ association. Name three
Seronegative spondyloarthropathies; B27; ankylosing spondyloarthritis; reiter syndrome; psoriatic arthritis
Ankylosing spondyloarthritis involves the ___ joints and ___. It arises in young/old adults, most often female/male. It presents with ___ pain. Fusion of the ___ eventually arises (bamboo spine). Extra-articular manifestations include __ and __.
sacroiliac; spine; young; male; low back; vertebrae; uveitis; aortitis (leading to aortic regurgitation)
Reiter syndrome (aka reactive arthritis) is characterized by the triad of ___, ___, and ___. Arises in young/old adults, usually females/males, weeks after a GI or ____ infxn.
arthritis, urethritis, conjuctivitis (can’t see, can’t pee, can’t climb a tree); young; males; chlamydia trachomatis
Psoriatic arthritis is seen in __% of cases of psoriasis. Involves ___ and ___ joints. Most commonly affected joints are ___.
10; axial and peripheral; DIP joints (leads to sausage fingers or toes)
Infectious arthritis is due to an infectious agent usually ___. Name two cause and who you see them in. Classically involves asymmetric/symmetric joint, most typically the ___. Presents as a ___ joint with limited range of motion. Also often see __, increased ___, and elevated ___.
bacterial; N gonorrhoeae (young adults; most common); S aureus (older children and adults; 2nd most common); asymmetric (single joint); knee; warm; fever; WBC; ESR (erythrocyte sedimentation rate)
Gout is a deposition of ____ crystals in tissues, especially the joints due to ___. ___ is derived from purine metabolism and is excreted by the kidney. Primary gout is the most common form and the etiology of hyperuricemia is ___.
monosodium urate; hyperuricemia; uric acid; unknown
Name three disorders that cause secondary gout
Leukemia and myeloproliferative disorders (increased cell turnover lead to hyperuricemia); Lesch Nyhan syndrome (HGPRT is used to salvage purines, and they have deficiency); Renal insufficiency (decreased excretion)
Lesch Nyhan syndrome is an x-linked deficiency of _____, which presents with these three symptoms
hypoxanthine-guanine phosphoribosyltransferase (HGPRT); mental retardation, self mutilation, secondary gout
Acute gout presents as painful arthritis of the ___ (aka ___); MSU crystals deposit in joint, and activate ___, triggering an acute inflammatory reaction. ___ or ___ may precipitate this.
great toe; podagra; neutrophils; alcohol; consumption of meat (lots of RNA and DNA in meat)
Chronic gout leads to development of ___, white chalky aggregates of uric acid crystals with fibrosis and giant cell reaction in the soft tissues and joints. Can also lead to ___ due to crystals depositing in the kidney tubules
tophi; renal failure
Tophi are ___, ___ aggregates of uric acid crystals with ___ and ___ reaction in the soft tissues and joints
white, chalky; fibrosis; giant cell
In gout, synovial fluid shows ___ shaped crystals with positive/negative birefringence under polarized light. When laying flat the crystals appear ___.
needle; negative; yeLLow (lay low - also yellow in paraLLel light)
Pseudogout, resembles gout clinically but is due to deposition of ____. Synovial fluid shows ___ shaped crystals and weakly positive/negative birefringence under polarized light.
calcium pyrophosphate dihydrate (CPPD); rhomboid; positive
What is the most common benign soft tissue tumor in adults?
Lipoma
What is the most common malignant soft tissue tumor in adults?
liposarcoma
What is the most common malignant soft tissue tumor in children?
rhabdomyosarcoma
___ is a benign tumor of adipose tissue. ___ is a malignant tumor of adipose tissue and ___ is the characteristic cell.
Lipoma; liposarcoma; lipoblast
___ is a benign tumor of skeletal muscle. Cardiac ____(same as above) is associated with ____.
Rhabdomyoma x 2; tuberous sclerosis
___ is a malignant tumor of skeletal muscle and ___ is the characteristic cell. On IHC staining, ___ is positive. Most common site is ____; ___ is classic site in young girls.
Rhabdomyosarcoma; rhabdomyoblast; desmin; head and neck; vagina (grape like mass)
Rickets most commonly arises in children ___ years of age, and presents with these 4 findings
less than 1; pigeon breast deformity (inward bending of ribs with anterior protrusion of the sternum); frontal bossing (enlarged forehead - due to osteoid deposition on skull); rachitic rosary (due to deposition at costochondral junction); bowing of legs (in ambulating children)
