Developmental congenital disorders of bone and cartilage (3)
- Aplasia (commonly fingers or ribs)
- Supernumerary digits or ribs
- abnormal fusion of sutures
- development is known as DYSOSTOSIS: localized problem in migration of mesenchymal cells and the formation of bone
type of congenital disorder of bone and cartilage knowns as dysplasia
- mutations that interfere with bone formation/growth/maintenance
- "abnormal growth", not pre-malignant
Osteogenesis Imperfecta: common name, pathogenesis, symptoms
- "brittle bone disease"
- inherited conditions characterized by abnormal develop of type I collagen
- results in bone fragility, abnormal dentition, hearing loss, blue sclera
- *may mimic child abuse
Achondroplasia pathogenesis and features
- impaired proliferation and maturation of cartilage
- 80% from spontaneous mutation
- affects all bones that develop by endochondral ossification
- shortening of arms and legs, bowing of legs, lordotic posture
Osteopetrosis is known as...
"marble bone disease" or "Albers-Schonberg d."
Osteopetrosis: pathogenesis and features
- characterized by deposition of over mineralized, brittle bone
- caused by defective osteoclasts
- increased incidence of fractures and cranial nerve palsies
- crowding of bone marrow
acquired diseases of bone (4)
- Pagets diseases
- rickets and osteomalacia
Osteoporosisis characterized by ____ and is caused when _____.
- reduced bone mass
- bone resorption exceeds bone formation
primary forms of osteoporosis (2)
- age related (Senile) osteoporosis
- post menopausal
Risk factors for osteoporosis
- genetic factors
- physical activity
- peak bone mass (reached in 3rd decade)
ostoeoporosis can be treated with
Paget's disease is characterized by
- accumulation of abnormal dense bone
- bone is disordered and weak
- causes headaches, bone enlargement, pain, neurological defecits, bowing of legs
what type of fracture is indicative of Paget disease
"chalk stick" fractures
What would be different about serum in a person with Paget's disease?
elevated serum alkaline phosphatase
Treatment of paget disease
bisphosphonates and/or calcitonin
paget disease histology
woven bone with mosaic pattern
Rickets and osteomalacia are characterized by
vitamin D deficiency causing accumulation of unmineralized matrix
which groups get Rickets vs osteomalacia
- rickets: kids
- osteomalacia: adults
In hyperparathyroidism, excess PTH in the body leads to...
- body senses a greater need for serum calcium, which causes unabated osteoclast activity
- elevated serum calcium
treatment for hyperparathyroidism
which fractures fail to heal?
- inadequate immobilization, leading to pseudoarthosis
how do fractures heal?
heal with a bony callus, which remodels with used back to normal form
Osteomyelitis is inflammation of bone and marrow caused by infection. This infection can come from...
- hematogenous spread (most common)
- direct extension of infection
- traumatic implantation
most common pathogen that causes osteomyelitis?
can the causative organism of osteomyelitis always be isolated?
no, only in about half of cases
bone may separate in 2 way in osteomyelitis
- sequestrum (non-vital bone)
- involucrum (vital bone)
treatment of osteomyelitis?
debridement with vigorous and prolonged antibiotic therapy
what is an osteoma?
slow growing, exophytic growth of woven and lamellar bone
Symptoms of Gardner syndrome?
- multiple osteomas
- colorectal adenomatous polyps
- supernumerary and impacted teeth
- epidermal cysts
People with Gardner syndrome have an increased risk for what conditions
colorectal and thyroid carcinomas
How is osteoid osteoma and osteblastoma related?
some believe they are variants of the same process
What is the difference in experienced pain for osteoid osteoma and osteoblastoma?
- Osteoid osteoma: nocturnal pain relieved by aspirin
- Osteoblastoma: ill-defined pain NOT relieved by aspiring
Radiology differences for Osteoid osteoma and osteoblastoma
- osteoid osteoma: well-circumscribed radiolucency with central radiopaque nidus and surrounding reactive sclerosis
- osteoblastoma: ill -or well-defined radiolucency with patchy calcifications or radiopaque
relative sizes and location of osteoid osteoma and osteoblastoma tumors
- osteoid osteoma: < 2 cm, appendicular skeleton
- Osteoblastoma: > 2 cm, central skeleton
Osteosarcoma is more commonly a ____ tumor than a _____ tumor
What is the most common primary tumor of bone?
Osteosarcoma is caused by
production of osteoid by malignant cells most commonly in the 2nd decade
osteosarcoma is commonly found in what part of the body?
distal femur and proximal tibia (knee)
radiolucent, mixed or radiopaque; "sunburst" appearance, Codman's triangle
What is the most common benign tumor of bone?
- mature hyaline cartilage
- small bones of hands and feet
- any age
- multiple lesions in Ollier's disease, Maffucci syndrome
- malignant cartilaginous tumor
- painful, progressively enlarging mass
- well-differentiated to highly pleomorphic
- rate of growth and behavior are correlated with histologic grade
fibrous dysplasia pathogenesis
normal bone replaced by fibrous tissue and malformed bone
fibrous dysplasia radiology
lesions are circumscribed and radiolucent or ill-defined and "ground glass"
Features of McCune-Albright Syndrome
- polyostotic fibrous dysplasia
- cafe-au-lait pigmentations
- precocious puberty in females
- other endocrine abnormalities
- Lesions from PNET family of tumors
- t(11,22) or t(21,22)
- painful lesion +/- fever
- "onion skin" osteitis
Giant cell tumor of bone comprises ___% of all benign bone tumors
Giant cell tumor is characterized by
- solitary, radiolucent lesion
- commonly in epiphysis of long bones
- may be mistake for arthritis
The most common disorder of the joints?
- dengerative joint disease
- dengeneration of the articular surface
- eburnation (polishing)
- bony proliferations at the joint margins (osteophytes)
- can affect any joint
- heberden's nodes: osteophytes at the distal interphalangeal joints
- "joint mice" (loose bodies)
- deep aching pain, exacerbated by use
In osteoarthritis, vs rheumatoid, there is
- NO fusion of bones
- NO panes formation
- minimal inflammation
Rheumatoid arthritis is an _____ disease and is caused by ________
- autoimmune disease
- systemic, chronic inflammation
rheumatoid arthritis affects _______ joints and results in _______ which progresses to _______
- usually small
- non-suppurative proliferative synovitis
- joint destruction
treatment for rheumatoid arthritis?
anti-inflammatory and anti-tumor necrosis factor agents
____% of those untreated for the initial infection of Lyme disease get Lyme _____.
What disease is characterized by recurrent episodes of acute arthritis due to accumulation of uric acid in joints?
in Gout, __________ crystals are deposited in the joints
What is the most common soft tissue tumor in adults?
lipoma (a type of adipose tumor)
types of reactive proliferations that cause fibrous tumors
- nodule fascitis
- myositis ossificans (metaplastic bone, often after trauma)
What condition is caused by mutated repair mechanisms causing fibrous tissues to be ossified
fibrodysplasia ossificans progressiva
- malignant neoplasm of fibroblasts
- usually in adults
- usually in deeper tissues
- often metastasizes to the lunes
what is a benign tumor of the skeletal muscles, sometimes associated with TB?
what is a malignant tumor of skeletal muscle?