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43 Cards in this Set

  • Front
  • Back
What condition is also known as brittle bone disease?
Osteogenesis Imperfecta (OI)
In OI what is primarily affected?
Type 1 collagen synthesis problems
What body parts can be affected by OI?
Trabeculae of bone, structures rich in type 1 collagen like joints, eyes, ears, skin and teeth (blue sclera can also be seen)
How many subtypes of OI are there?
(involve pro-alpha chains)
What term is used when the only thing affected in the dentin of the teeth?
Dentinogenesis imperfecta
What term is used when dentin of the teeth is affected as well as osteogenesis imperfecta?
Opalescent Teeth
What is Marble Bone or Albers-Schönberg Disease?
In Osteopetrosis the defect is attributed to a reduction in number of osteoclasts.
Osteopetrosis is due to dysfunction of the osteoclasts
What bone disease presents as woven bone (stone-like) due to reduced osteoclastic bone resorption resulting in a diffuse symmetric skeletal sclerosis?
What are 2 of the 4 types of osteopetrosis?
Infantile Malignant Osteopetrosis (IMOp)
Autosomal Dominant Benign Adult Form (ADBAFOp)
What type of osteopetrosis is:
1) evident in utero or soon after birth
2) reduced bone marrow space leads to decreased hematopoiesis
3) anemia
4) reduced WBC (more susceptible to infection)
5) smaller foramen lead to facial paralysis due to pressure upon cranial nerves
Infantile malignant osteopetrosis IMOp
What type of osteopetrosis is:
1) Not detected until adolescent or adult (x-ray due to repeated fractures)
2) milder cranial nerve deficits and anemia
3) compatible with life
4) Bone marrow transplant can provide patient w/osteoprogenitors that can produce normally functioning osteoclasts (so some of skeletal defects may be reversed)
Autosomal Dominant Benign Adult Form Osteopetrosis
What bone disease is characterized by increased porosity of the skeleton resulting from reduced bone mass, which predisposes the bone to fracture?

(porosity...think the link)
What may be primary or secondary to a large variety of conditions such as endocrine disorders?
When is peak bone mass achieved?
during Young Adulthood**
What is the best way to help reduce the risk for osteoporosis?
Generate as much bone mass as possible during young adulthood.
What are some hypotheses that could attribute to osteoporosis?
1) Age-related Changes
2) Reduced physical activity
3) Genetic Factors
4) Calcium nutritional state
5) Hormonal influences
What bone disease can present clinically as:
1) vertebral fractures
2) lumbar lordosis (anterior curvature of spine)
3) kyphoscoliosis (lateral and posterior curvature of spine)
What are the treatments for osteoporosis?
1) exercise
2) Calcium and Vit D
3) Estrogen replacing therapy, bisphosphonates and recombinant PTH
What is osteomalacia also known as?
What disease is characterized by a defect in Matrix Mineralization in Adults?
What disease is characterized by a defect in Matrix Mineralization in Children?
What are these predisposing conditions characterizing?
1) lack of Vit D
2) lack of Vit D Absorption
3) Derangements in Vit D metabolism
4) phosphate depletion
Rickets and Osteomalacia
What bone disease denotes inflammation of the bone and marrow and implies Infection?
What bone disease presents as:
a) signs of acute inflammation that has been less than 1 mo long
b) feverm leukocytosis, lymphadenopathy
c) radiographs NOT helpful (ill-defined radiolucency)
Acute Osteomyelitis
What bone disease presents as:
a) may develop de novo or with quiescence of an acute infection
b) pain, some swelling, sinus formation, purulent discharge, sequestrum formation
3) Radiographs reveal patchy, ragged and ill-defined radiolucency containing radiopaque sequestra
Chronic Osteomyelitis

(sequestrum is a piece of dead bone that can migrate away from the healthy bone)
What bone disease is characterized by woven bone, episodes of localized, frenzied osteoclastic activity with bone resorption followed by exuberant bone formation with a net effect of a gain in bone mass?
Paget Disease (Osteitis Deformans)
What is the most common indicator of Pagets Disease?
Bone Pain*
What are the 3 phases of Paget's Disease?
Osteolytic Phase
Mixed Phase
Osteosclerotic Phase
What are benign lesions of bone that in many cases represent developmental growth rather than true neoplasms & are composed of woven and lamellar bone?
What specific form of multiple osteomas manifests in the mandible, leads to supernumerary teeth, intestinal polyps that undergo malignant change with a high frequency?
Gardner Syndrome
(form of osteoma)
What is a malignancy of connective tissue?
What is a malignant mesenchymal tumor in which the cancerous cells produce bone matrix?
What is the most common primary malignant tumor of bone, exclusive of myeloma and lymphoma?
What bone disease is a benign tumor-like lesion of bone in which normal medullary bone is replaced by an abnormal fibrous connective tissue proliferation in which new non-maturing bone is formed?
Fibrous dysplasia
When fibrous dysplasia is involved in a single bone it is referred to as?
When fibrous dysplasia is involved in multiple, but not all, bones it is referred to as?
What is polystotic disease associated with?
Cafe au Lait skin pigmentation and endocrine abnormalities
What type of Fibrous Dysplasia is associated with:
*Accounts for approximately 70% of cases of fibrous dysplasia.
*Usually occurs in early adolescence and affects male and females about equally.
*Generally, stops growing at the time of growth plate closure.
*Most commonly affects ribs, femur, tibia, jaws, and skull
*Usually develops as an asymptomatic swelling that can cause marked enlargement of the affected bone.
Monostotic Fibrous Dysplasia
What type of dysplasia:
*Represents about 27% of the cases.
*It appears at an early age and progresses into adulthood.
*Around 50% of these patients have craniofacial involvement.
*All such cases have a propensity to develop shoulder and pelvic girdle problems, which may result from crippling (shepherd-crook) deformities and fractures.
*Most have craniofacial problems.
Polystotic Fibrous Dysplasia w/o Endocrine Dysfunction
What type of fibrous dysplasia has:
*This form of fibrous dysplasia is also known as McCune-Albright syndrome.
*These patients typically manifest:
1) polyostotic fibrous dysplasia
2) café au lait spots
3) endocrine abnormalities, which may include:
a) sexual precocity, (early development)
b) hyperthyroidism,
c) pituitary adenomas producing GH
d) primary adrenal hyperplasia
*This entity is recognized more frequently in girls.
Polystotic Fibrous Dysplasia w/skin pigmentation and endocrinopathy
What are benign tumors of hyaline cartilage with most arising in the small cones of the hand and feet of people in the 20-40 year age range?
What are malignant neoplasms populated by mesenchymal cells that produce a cartilaginous matrix?