Musculo - Pathology Part 1 Flashcards
Achondroplasia is an autosomal _____ (dominant/recessive) genetic trait.
Dominant
In achondroplasia, the short limbs are a result of the failure of what type of bone growth?
Longitudinal bone growth (this type of bone growth accounts for the growth of the long bones in the limbs)
In achondroplasia, _____ (endochondral/membranous) bone growth is not affected.
Membranous (this type of bone growth accounts for the formation of the skull, the facial bones, and the axial skeleton)
In achondroplasia, the limbs are shorter than normal, but the _____ and _____ are normal.
Head; trunk
Achondroplasia represents a failure of cartilage maturation resulting from a mutation in what receptor?
Fibroblast growth factor receptor
Individuals with achondroplasia have _____ (normal/decreased) life span and fertility.
Normal
True or False? Achondroplasia is associated with advanced paternal age.
True
A reduction in bone mass despite normal bone mineralization is a description of what disease?
Osteoporosis
What is type I osteoporosis?
Increased bone resorption as a result of decreased estrogen levels
Which therapy for osteoporosis is considered controversial due to risk of serious side effects?
Estrogen replacement therapy
What is type II osteoporosis?
Senile osteoporosis; affects men and women older than 70 years of age
Which upper extremity fracture is commonly seen in patients with osteoporosis?
Colles fracture of the distal radius
A known osteoporotic patient presents with acute back pain, loss of height and kyphosis. From what is she suffering?
Vertebral crush fractures
Name four treatments for osteoporosis.
Estrogen, calcitonin, bisphosphonates, and pulsatile parathyroid hormone
Name two methods of osteoporosis prophylaxis.
Exercise and calcium supplementation before age 30 years
A failure of normal bone resorption that leads to thickened, dense bones is a description of which disorder?
Osteopetrosis
Osteopetrosis is a bone defect caused by the abnormal function of which cell type?
Osteoclasts
In patients with osteopetrosis, is the serum calcium level high, normal, or low?
Normal
In patients with osteopetrosis, is the serum phosphate level high, normal, or low?
Normal
In patients with osteopetrosis, is the alkaline phosphatase level high, normal, or low?
Normal
A genetic deficiency in carbonic anhydrase II leads to what disease?
Osteopetrosis
Name three complications of osteopetrosis due to decreased space for bone marrow.
Anemia, thrombocytopenia, and infection
What neurologic lesions may result from osteopetrosis?
Cranial nerve palsies due to narrowed foramina in the skull
What is the classic x-ray finding in osteopetrosis?
Erlenmeyer flask bones that flare out
What is the disorder in which the defective mineralization of osteoid leads to soft bones?
Osteomalacia/rickets
Vitamin D deficiency in adults leads to decreased levels of what important element of bone formation?
Calcium
A decreased level of calcium leads to increased levels of what hormone?
Parathyroid hormone
In osteomalacia/rickets, phosphate levels are _____ (increased/decreased).
Decreased (due to secondary hyperparathyroidism induced by low calcium levels)
Vitamin D deficiency in childhood causes what disorder?
Rickets
What condition causes osteitis fibrosa cystica?
Hyperparathyroidism
In osteitis fibrosa cystica, what are brown tumors?
Cystic spaces lined by osteoclasts that are filled with fibrous stroma or blood
In patients with osteitis fibrosa cystica, is the serum calcium level high, low, or normal?
High
In patients with osteitis fibrosa cystica, is the serum phosphorus level high, low, or normal?
Low
In Pagets disease, is there abnormal activity of osteoblasts, osteoclasts, or both?
There is abnormal activity of both osteoblasts and osteoclasts
Which disease of the bone is described as abnormal architecture of the bone which is the result of increased osteoblastic and osteoclastic activity?
Pagets disease
An individual experiencing hearing loss and increased hat size may suffer from what disorder?
Pagets disease (hearing loss is a result of auditory foramen narrowing)
Patients with Pagets disease are at increased risk of what type of fractures?
Chalk stick fractures of long bones
Patients with Pagets disease are at increased risk of what type of cardiac disease?
High-output congestive heart failure (due to increased atrioventricular shunting)
Patients with Pagets disease are at increased risk of what type of cancer?
Osteogenic sarcoma
In patients with Pagets disease, is the serum calcium level high, low, or normal?
Normal
In patients with Pagets disease, is the serum phosphorus level high, low, or normal?
Normal
In patients with Pagets disease, is the parathyroid hormone level high, low, or normal?
Normal
In patients with Pagets disease, is the serum alkaline phosphatase level high, low, or normal?
High
True or False? Osteopetrosis is characterized by elevated calcium.
False; lab values are normal
Describe the effect osteopetrosis has on bones.
Bones are thickened and dense
In osteomalacia/rickets, serum calcium levels are _____ (increased/decreased), phosphate levels are _____ (increased/decreased) and PTH levels are _____ (increased/decreased).
Decreased; decreased; increased
In osteitis fibrosa cystica, serum calcium levels are _____ (increased/decreased); phosphate levels are _____ (increased/decreased); ALP levels are ____ (increased/decreased) and PTH levels are _____ (increased/decreased).
Increased; decreased; increased; increased
What lab value is elevated in Pagets disease?
Alkaline phosphatase
In polyostotic fibrous dysplasia, bone is replaced by what three substances?
Fibroblasts, collagen, and irregular bony trabeculae
Which syndrome is a form of polyostotic fibrous dysplasia characterized by unilateral bone involvement, unilateral coast of Maine spots, and precocious puberty?
McCune-Albright syndrome
What is the endocrine abnormality found in patients with McCune-Albright syndrome?
Precocious puberty
What are the dermatologic findings in McCune Albright syndrome?
Café-au-lait spots and coast of Maine spots
Which benign bone tumor is associated with Gardners syndrome?
Osteoma
_____ _____ is a benign bone tumor most common in men <25 years old and most commonly found in the proximal tibia and femur.
Osteoid osteoma
Describe the histology of osteoid osteomas.
An osteoid osteoma is composed of interlacing trabeculae of woven bone surrounded by osteoblasts
How do osteoblastomas differ from osteoid osteomas?
Although the two have the same morphology, osteoid osteomas are < 2 cm and found in the proximal tibia and femur, whereas osteoblastomas are larger and found in the vertebral column
Giant cell tumors have a peak incidence in patients in what age range?
20 to 40 years of age
Which bone tumor is described as a locally aggressive benign tumor that is often
seen in the distal femur or the proximal tibia?
Giant cell tumor
Which primary bone tumor has a characteristic double bubble or soap bubble appearance on x-ray?
Giant cell tumor
What is the histopathologic appearance of giant cell tumors?
Spindle-shaped cells and multinucleated giant cells
What is another name for giant cell tumor?
Osteoclastoma (not to be confused with osteoblastoma)
What is the most common primary benign bone tumor?
Osteochondroma
At what age do men usually develop osteochondromas?
When they are < 25 years of age
From where do osteochondromas most commonly originate?
Metaphysis of long bones
Osteochondromas rarely transform into which type of malignancy?
Chondrosarcoma
What is another name for osteochondroma?
Exostosis
Histologically, what benign bone tumor can be described as mature bone with a cartilaginous cap?
Osteochondroma (exostosis)
What is a benign cartilaginous neoplasm that is found in the intramedullary bone?
Enchondroma
Where are enchondromas generally found?
Distal extremities
What is the second most common primary malignant bone tumor after multiple myeloma?
Osteosarcoma
The incidence of osteosarcoma peaks in males in what age range?
10 to 20 years of age
Where are osteosarcomas most commonly found?
In the metaphysis of the long bones, especially around the knee
What four factors predispose to osteosarcoma?
Pagets disease of bone, bone infarcts, radiation, and familial retinoblastomas
What is Codmans triangle?
X-ray findings of elevation of the periosteum, which is classic for osteosarcoma
Which malignant primary bone tumor is described as having anaplastic small blue cells?
Ewings sarcoma
Patients of what sex and age are predisposed to Ewings sarcoma?
Males younger than 15 years of age
Ewings sarcoma is very aggressive with early _____, but it is responsive to chemotherapy.
Metastases
What is the classic radiographic appearance of bone in Ewings sarcoma?
It has an onion-skin appearance
Where are the four most common sites of Ewings sarcoma?
The diaphysis of the long bones, the pelvis, the scapula, and the ribs
What genetic change is associated with Ewings sarcoma?
11;22 Translocation
What is the name of a malignant cartilaginous tumor?
Chondrosarcoma
Chondrosarcomas are most common among men who are between what ages?
30 to 60 years of age
Where are chondrosarcomas usually located?
In the pelvis, spine, scapula, humerus, tibia, and femur
A chondrosarcoma may be of primary origin or may occur as a result of what?
An osteochondroma with malignant transformation
How does a chondrosarcoma look on gross exam?
As an expansile glistening mass within the medullary cavity
Benign _____ and malignant _____ are found in the intramedullary part of bone.
Enchondromas; chondrosarcomas
Benign _____ _____ and malignant _____ _____ are found in the diaphysis of bone.
Osteoid osteomas; Ewings sarcoma
Osteoclastomas (giant cell tumors) are found in the _____ (epiphysis/metaphysis/diaphysis/intramedullary) part of long bones.
Epiphysis
Benign _____ and malignant _____ are found in the metaphysis of bone.
Osteochondromas; osteosarcomas
Soap bubble tumors are also known as?
Giant cell tumor
Which type of tumor causes the formation of Codmans triangle?
Osteosarcoma
In osteoarthritis, the wear and tear of joints leads to the destruction of what?
Articular cartilage
What are Heberdens nodes?
Calcific spurs of the articular cartilage at the distal interphalangeal joint
characteristic of osteoarthritis
What are Bouchards nodes?
Calcific spurs of the articular cartilage at the proximal interphalangeal joint
Pain in weight-bearing joints after use that improves with rest is a classic presentation of which type of arthritis?
Osteoarthritis
Systemic symptoms such as fever and malaise are _____ (present/absent) in osteoarthritis.
Absent; osteoarthritis is not associated with systemic symptoms
What pathologic changes of bone are found in osteoarthritis?
Histologically, subchondral cysts, sclerosis, thickened capsule, and slight synovial hypertrophy are found in osteoarthritis
Name three risk factors for the development of osteoarthritis.
Age, obesity, and joint deformity
In osteoarthritis of the knees, cartilage loss begins where, leading to what finding?
Medial aspect of the knee, leading to a bowlegged appearance
What kind of problem is rheumatoid arthritis: mechanical or autoimmune?
Autoimmune
_____ deviation of the fingers is associated with rheumatoid arthritis.
Ulnar
What dermatologic finding is seen in rheumatoid arthritis?
Subcutaneous nodules
What joint finding is pathognomonic in rheumatoid arthritis?
Pannus formation in the joints
In the hand, which two joints are most affected in rheumatoid arthritis?
Metacarpophalangeal and proximal interphalangeal joints
Which type of joint is affected by rheumatoid arthritis?
Synovial joints
Is rheumatoid arthritis more prevalent in males or females?
Females
Eighty percent of patients with rheumatoid arthritis have what serologic finding?
Rheumatoid factor (anti-immunoglobulin G antibodies)
Rheumatoid factor is an antibody against what type of molecule?
Immunoglobulin G
Do the symptoms of rheumatoid arthritis improve or worsen with use?
Morning stiffness is associated with rheumatoid arthritis and improves with use
Is the joint involvement in rheumatoid arthritis unilateral or symmetric?
Symmetric
Rheumatoid arthritis is characterized by what symptoms other than arthritis?
Morning stiffness improving with use, symmetric joint involvement, and systemic symptoms (fever, fatigue, pleuritis, pericarditis)
What are the histologic findings in rheumatoid arthritis?
Bone and cartilage erosion, increased synovial fluid, and pannus formation
What physical exam finding is characterized by flexed distal interphalangeal joints and overextended proximal interphalangeal joints?
Swan-neck deformity
What physical exam finding is characterized by overextended distal interphalangeal joints and flexed proximal interphalangeal joints?
Boutonniere deformity
Rheumatoid arthritis has a strong association with which human leukocyte antigen complex?
Human leukocyte antigen DR4
Name the finger joint spared in rheumatoid arthritis.
Distal interphalangeal joints
_____ cysts are associated with rheumatoid arthritis.
Bakers cysts, which are located behind the knee
What serologic test is less sensitive but more specific for rheumatoid arthritis than rheumatoid factor?
Anticyclic citrullinated peptide
sjögrens syndrome is characterized by which triad of signs and symptoms?
Xerophthalmia (dry eyes and conjunctivitis), xerostomia (dry mouth and dysphagia), and arthritis
Individuals with sjögrens syndrome have an increased risk of what type of cancer?
B-cell lymphoma
Which serologic findings are characteristic of sjögrens syndrome?
Antiribonucleoprotein antibodies; also known as anti-Ro and anti-La or SS-A and SS-B
sjögrens syndrome typically affects which demographic?
Females 40 to 60 years of age
A 55-year-old woman complains of a myriad of symptoms including dry eyes, dry mouth, nasal and vaginal dryness, chronic bronchitis, and reflux esophagitis. She denies any arthritic symptoms. What diagnosis can explain this constellation of symptoms?
Sicca syndrome
Individuals with sjögrens syndrome are at increased risk for which dental condition?
Caries, due to decreased production of saliva
Gout occurs from the precipitation of _____ _____ crystals into the joints as a result of hyperuricemia.
Monosodium urate
Thiazide diuretics inhibit the excretion of _____ _____, leading to increased risk of gout.
Uric acid
Are joints affected by gout in a symmetric or asymmetric pattern?
Asymmetric
What is the name of the painful metatarsophalangeal joint found in the big toe of a patient with gout?
Podagra
In patients with gout, tophi often form on which areas of the body?
External ear, olecranon bursa, Achilles tendon
The crystals in gout are _____ (positively/negatively) birefringent and _____ (needle/rhomboid)-shaped.
Negatively; needle
Is gout more common in men or women?
Men
What are two common triggers of acute gout?
Consumption of alcohol (alcohol metabolites compete with uric acid for excretion sites in kidney, causing reduced uric acid secretion and buildup in blood) or a large meal
Name four treatments for gout.
Allopurinol, probenecid, colchicine, and nonsteroidal antiinflammatory drugs
Which inborn errors of metabolism can predispose to gout?
Lesch Nyhan and Von Gierkes disease
Pseudogout is caused by the deposition of _____ _____ crystals within the joint space.
Calcium pyrophosphate
In pseudogout, are the crystals positively or negatively birefringent?
Weakly positively birefringent
Pseudogout tends to affect people who are more than ____ years old.
50
Are men or women more affected by pseudogout?
Both are equally affected
While in gout crystals are yellow when _____ (perpendicular/parallel) to the light of the microscope, in pseudogout crystals are yellow when _____ (perpendicular/parallel) to the light of the microscope.
Parallel; perpendicular
Pseudogout tends to affect predominantly the _____ (large/small) joints.
Pseudogout affects large joints (classically the knee)
Name three organisms that commonly cause septic arthritis.
Staphylococcus aureus, Streptococcus, and Neisseria gonorrhoeae
Which organism is a common cause of septic arthritis leading to red and painful joints presenting in a monoarticular, migratory, asymmetric pattern?
Neisseria gonorrhoeae (remember: STD= Synovitis (eg, knee), Tenosynovitis (eg, hand), and Dermatitis (eg, pustules)
Name two diseases that can cause chronic infectious arthritis.
Tuberculosis and Lyme disease
Seronegative spondyloarthropathies are a form of autoimmune arthritis that occurs without a positive _____ _____ in the blood.
Rheumatoid factor
In seronegative spondyloarthropathies, there is a strong association with which human leukocyte antigen?
Human leukocyte antigen B27
Do seronegative spondyloarthropathies affect more men or more women?
Men
What is the classic triad of clinical signs and symptoms in ankylosing spondylitis?
Ankylosis (stiff spine), uveitis, and aortic regurgitation
What is the classic triad of clinical signs and symptoms in Reiters syndrome?
Urethritis, ophthalmologic findings (conjunctivitis and anterior uveitis), and arthritis (remember: Cant see, cant pee, cant climb a tree)
What are two triggers for Reiters syndrome?
Gastrointestinal infection and chlamydial infection
The physical exam finding of dactylitis (sausage fingers) and radiologic finding of pencil-in-cup deformity are associated with which type of arthritis?
Psoriatic arthritis
True or False? Most individuals with psoriasis are affected with psoriatic arthritis as well.
False; fewer than one third of patients with psoriasis are affected by psoriatic arthritis
Psoriatic arthritis commonly presents in a(n) _____ (symmetric/asymmetric) pattern.
Asymmetric and patchy involvement
A woman has a rash on her cheeks that involves the bridge of the nose but spares the area below the nasolabial sulcus. What is the name of this rash, and what disease is it most commonly associated with?
Malar rash; systemic lupus erythematosus
Which demographic is most commonly affected by lupus?
Females 14 to 45 years of age
Systemic lupus erythematosus is most common and severe in which ethnic group: whites, African-Americans, or Asians?
African-Americans
Which form of endocarditis is associated with systemic lupus erythematosus?
Nonbacterial verrucous endocarditis
What abnormal finding could a patient with systemic lupus erythematosus have on chest x-ray?
Hilar adenopathy
True or False? Raynauds phenomenon is associated with systemic lupus erythematosus.
True
What is the histopathologic appearance of renal disease in systemic lupus erythematosus?
Wire loop lesions, due to immune complex deposition in the glomeruli
What are two common causes of death in patients with systemic lupus erythematosus?
Renal failure and infection
Patients with systemic lupus erythematosus may be falsely diagnosed with which disease based on serologic testing?
False-positive rapid plasma reagin or venereal disease research laboratory tests for syphilis occur as a result of the presence of antiphospholipid antibodies
What are the eleven findings used to make a clinical diagnosis of systemic lupus erythematosus?
For the characteristics of systemic lupus erythematosus
remember IM DAMN SHARP:
Immunoglobulins (anti-double-stranded DNA, anti-Smith, antiphospholipid), Malar rash,
Discoid rash,
Antinuclear antibody, Mucositis (oropharyngeal ulcers),
Neurologic disorders, Serositis (pleuritis, pericarditis),
Hematologic disorders, Arthritis,
Renal disorders, Photosensitivity
In false-positive rapid plasma reagin or venereal disease research laboratory syphilis tests, the antiphospholipid antibody cross-reacts with what substance?
Cardiolipin
Which serologic findings (antibodies) can be positive in patients with lupus?
Antinuclear antibodies, anti-double-stranded DNA, anti-Smith antibodies, and antihistone antibodies
Serositis in systemic lupus erythematosus refers to inflammation of which membranes?
Pleuritis and pericarditis
In patients with drug-induced lupus, which antibodies are detected?
Anti-histone antibodies
Which antibody is specific for lupus but is not prognostic?
Anti-Smith antibodies
Which antibody is specific for lupus and predicts a poor prognosis?
Anti-double-stranded DNA
Which antibody is sensitive for lupus but is not specific?
Anti-nuclear antibodies
In which diseases can a positive antinuclear antibody result be found on serologic testing?
Systemic lupus erythematosus, sjögrens syndrome (and sicca), and scleroderma
What specific population is most affected by sarcoidosis?
African-American females
What is the underlying pathology in sarcoidosis?
Widespread noncaseating granulomas
What enzyme levels are elevated in the serum in patients with sarcoidosis?
Serum angiotensin-converting enzyme levels
What type of lung disease is associated with sarcoidosis: obstructive or restrictive?
Restrictive
What type of lymphadenopathy is associated with sarcoidosis?
Bilateral hilar lymphadenopathy
What type of skin pathology is associated with sarcoidosis?
Erythema nodosum
What is a common finding on the chest x-ray of a patient with sarcoid?
Bells palsy
What two histopathologic findings are seen in the epithelial granulomas of sarcoidosis?
Schaumann bodies and asteroid bodies
Inflammation of which structures of the head is seen in sarcoidosis?
Ocular and parotid gland inflammation
