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