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Pathology > CONGENITAL AND DEVELOPMENTAL BONE DISEASES > Flashcards

CONGENITAL AND DEVELOPMENTAL BONE DISEASES Flashcards

1
Q

Developmental abnormalities of the skeleton are
frequently? Based

They become manifest during ?

A

genetically

manifest during earliest stages of bone
formation.

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2
Q

Acquired diseases are detected in?

A

adulthood

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3
Q

brittle bone disease

Also known as?

A

Osteogenesis Imperfecta

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4
Q

group of genetic disorders

characterized by brittle bones ?

A

Osteogenesis imperfecta

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5
Q

Hereditary disorders caused by ?

A

defective synthesis of type I
collagen.

  • type I collagen is a major component of extracellular
    matrix in other parts of the body, there are also extra-skeletal
    manifestations
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6
Q

Pathogenesis of Osteogenesis Imperfecta?

A

Results from autosomal dominant mutations in genes that coding
sequences for α1 or α2 chains of type I collagen.

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7
Q

Osteogenesis Imperfecta Subtypes?

A

Has 4 subtype, the most important are I&II

  1. Patients with type I have a normal lifespan, with only a
    modestly increased risk to fractures during childhood.
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8
Q

Osteogenesis Imperfecta type 1

finding ?

A

• Blue sclera caused by decreased collagen content.
• Hearing loss due to abnormalities in the bones of middle and
inner ear.
• Dental imperfections ( small, misshapen and blue-yellow teeth).

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9
Q

Osteogenesis Imperfecta

.Type II variant is ?

A

fatal pre- or immediately post-partum
due to multiple fractures that occur in utero.
B

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10
Q

most common disease of growth plate. ?

A

Achondroplasia

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11
Q

Major cause of dwarfism.

?

A

Achondroplasia

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12
Q

Achondroplasia pathogenesis?

A
  • transmitted as an autosomal dominant trait but many cases arise from spontaneous mutation resulting from:
  1. Defect in the cartilage synthesis at growth plates due to
    gain-of-function mutations in the FGF receptor 3 (FGFR3).
    =
    a receptor with tyrosine kinase activity that transmits intracellular
    signals.
    =
    Signals transmitted by FGFR3 inhibit the proliferation and
    function of growth plate chondrocytes
    =
    , the growth of normal epiphyseal plates is suppressed
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13
Q

characterized by failure of cartilage cell proliferation at the epiphysial plates of the long bones, resulting in failure of longitudinal bone growth and subsequent short limbs
?

A

Achondroplasia

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14
Q

Clinical Achondroplasia?

A

• Individuals have shortened proximal extremities.
• A trunk of normal length.
• Enlarged head with bulging forehead.
• Depression of the root of the nose.
• Skeletal abnormalities are not associated with changes in
longevity, intelligence and reproductive status.

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15
Q

A condition of skeletal fragility characterized by compromised
bone strength predisposing to an increased risk of fracture. ?

A

OSTEOPOROSIS

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16
Q

Peak bone mass is achieved during young adulthood. Its magnitude
is determined largely by ?

A

hereditary factors, especially

polymorphisms in the genes that influence bone metabolism.

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17
Q

important contributions

Of OSTEOPOROSIS?

A

Physical activity, muscle strength, diet, and hormonal state

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18
Q

Factors that can lead to osteoporosis?

A 
- nutrition: 
Vitamin D and calcium 
- physical activity: 
- aging : 
Dec activity of osteoprogenetal cell 
Dec. osteoclasts 
Reduced physical activity 
-menopause: 
Dec estrogen 
Inc expression of RANK 
Inc osteoclasts

=
Osteoporosis

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19
Q

Primary osteoporosis?

A
  • most menopausal

- senile (aging )

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20
Q

Secondary osteoporosis?

A
  • endocrine disorder :
    Hyperparathyroidism
  • liver and kidney disease
  • intestine disorder
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21
Q

the “silent disease?

A

Osteoporosis

22
Q

Symptoms of osteoporosis?

A
  • bone loss without symptoms.
  • Onset occurs with sudden strains, bumps, or fall causes a fracture or a vertebra to collapse.
  • Collapsed vertebrae may be seen in the form of severe back pain, loss of height, or spinal deformities such as kyphosis or stooped posture .
23
Q

difficult condition to diagnose
accurately, since it remains asymptomatic until skeletal
fragility is well advanced. ?

A

Osteoporosis

24
Q

Osteoporosis

The best procedures to accurately estimate the amount of
bone loss, aside from biopsy, are ?

A

specialized radiographic
imaging techniques, such as dual-energy X-ray
absorptiometry (DEXA) and quantitative computed
tomography, which measure bone density.

25
Q

group of rare genetic disorders
characterized by reduced osteoclast-mediated bone
resorption and therefore defective bone
remodelling.

A

OSTEOPETROSIS

26
Q

bones are abnormally
brittle and fracture easily, like a piece of chalk.
?

A

OSTEOPETROSIS

27
Q

There are two different genetic and clinical forms of the

disease\ osteopetrosis ?

A

1- The autosomal recessive form runs a “malignant” course and is fatal in utero, infancy or young adult life as a result of bone marrow obliteration, profound anemia, or other hemopoietic abnormalities.

2- The autosomal dominant form has a more benign course marked by repeated fractures on slight trauma, a near normal life expectancy, and the absence of hematopoietic abnormalities.

28
Q

he long bones of the extremities, vertebrae, pelvic
bones, and base of the skull show a great increase in
the density and thickness of the cortex.
?

A

Osteppetrosis

29
Q

An increase in the number and size of bony
trabeculae, and a marked reduction or obliteration of
the marrow spaces .
?:

A

Osteopetrosis

30
Q

The reduction in the total amount of bone marrow
leads to anemia and extramedullary hemopoiesis,
resulting in enlargement of the spleen, liver, and
lymph nodes.

A

Osteopetrosis

31
Q

Bone overgrowth at the base of the cranium causes
narrowing of the optic foramina and pressure on the
optic nerves, resulting in blindness.

A

Osteopetrosis

32
Q

The bone tissue formed is largely woven bone, and very little
of it is remodeled and replaced by lamellar bone.

A

Osteopetrosis

33
Q

Disorder of bone remodeling resulting excessive bone resorption followed by disorganized bone replacement. ?

A

PAGET DISEASE OF BONE (Osteitis Deformans)

34
Q

PAGET DISEASE OF BONE

Also known as ?

A

Osteitis Deformans

35
Q

• Thick but weak bone. • Susceptibility to deformity and fracture. • Forms of involvement:

A

PAGET DISEASE OF BONE (Osteitis Deformans)

36
Q

involving one bone

?

A

Monostotic

37
Q

involving multiple bones ?

A

Polyostotic

38
Q

PAGET DISEASE OF BONE (Osteitis Deformans)

Commonly involve ?

A

skull, pelvis, femur and vertebrae.

39
Q

3 stages:

Of PAGET DISEASE OF BONE (Osteitis Deformans)

A

1) Osteolytic; osteoclastic activity predominates
2) Mixed osteolytic and osteoblastic
3) Osteosclerotic; osteoblastic activity predominates

40
Q

Microscopically PAGET DISEASE OF BONE (Osteitis Deformans)

A

there is haphazard arrangement of cement

lines creating mosaic pattern of lamellar bone.

41
Q

Radiographs ? PAGET DISEASE OF BONE (Osteitis Deformans)

A

enlarged bones with lytic and
sclerotic areas. ]

Elevated alkaline phosphatase and urinary
hydroxyproline.

42
Q

Prone to develop osteosarcoma.

?

A

PAGET DISEASE OF BONE (Osteitis Deformans)

43
Q

affect growing children ? affecting

adults

A

RICKETS AND OSTEOMALACIA

44
Q

RICKETS AND OSTEOMALACIA They may result from ?

A

diets deficient in calcium and vitamin
D, but probably more important is limited exposure to
sunlight.

45
Q

Both diseases are characterized by decreased mineralization

of newly formed bone. ?

A

RICKETS AND OSTEOMALACIA

46
Q

occur in children prior to closure of epiphyses.

?

A

Rickets

47
Q

Rickets which formation is effected ?

A

Enchondral bone formation is affected leading to skelatal

deformities.

48
Q

Rickets clinically ?

A
  1. Craniotabes and frontal bossing
  2. Pigeon breast deformity
  3. Lumbar lordoses (Spinal curvature)
  4. Bowing of the legs ( Curvature of femur and tibia)
    1. Overgrowth of cartilage or osteoid tissue at the costochondral
      junction, producing the “rachitic rosary
49
Q

impaired mineralization of osteoid matrix resulting in thin fragile bones susceptible to fracture.
?

A

Osteomalacia

50
Q

Clinically present Osteomalacia?

A

bone pain and fractures of vertebra,

hips and wrist.

51
Q

Osteomalacia Radiographs? Labs?

A

diffuse radiolucency of bone. • Labs show low serum Calcium and Phosphorus with high
alkaline phosphatase.

52
Q

HYPERPARATHYROIDISM primary and secondary?

A

Primary results from hyperplasia or tumor , tends to
be severe. • Secondary is caused by prolonged state of
hypocalcemia; relatively mild. • Skeletal manifestations are caused by osteoclastic bone
resorption. • Increased osteoclastic activity affects cortical bone.

Pathology (4 decks)

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