Congenital and Acquired Diseases

Question 1

This cell is residing in a:

Answer 1

Howship lacunae = resorption pit

Question 2

What predisposes to the mutation causing this condition?

Answer 2

Advanced paternal age

(Shortened long bones with blunted ends = achondroplasia; FGFR3)

Question 3

Mechanism?

Answer 3

Scleral thinning allows exposure of choroid veins

(OI)

Question 4

These cells are differentiated from osteoprogenitors under influence of:

Answer 4

CBFA-1

Question 5

How would you treat this condition?

Answer 5

Bone marrow transplant

(Osteopetrosis - increase macrophages = increase osteocytes)

Question 6

What causes this finding?

Answer 6

Defective mineralization due to decreased vitamin D

(von Kossa stain = calcified tissue stains blacks; increased osteoid = rickets/osteomalacia)

Question 7

Diagnostic criteria for this condition?

Answer 7

Blue sclera

Osteoporosis

Immature osteomalacia

Dentigenesis imperfecta

(Telescoped long bones = OI; two of the above required for dx)

Question 8

Why does he have a norma sizedl trunk and head but short arms and legs?

Answer 8

Achondroplasia affects enchondral bone growth = how long bones grow; intramembranous growth unaffected = how vertebrae and skull develop

Question 9

The disease illustrated by the change in bone seen here is influenced by:

Answer 9

Age, diet, exercise, genetics (Vit D receptor), menopause/estrogen

Question 10

This man may be suffering from a condition caused by:

Answer 10

Imbalance of osteoclasts and osteoblasts

(Thickened skull = think Paget’s disease)

Question 11

This cell would not develop in the prescence of:

Answer 11

OPG = RANKL decoy

(Multinucleated = osteoclast)

Question 12

Deficiency of ___ can cause one form of this condition

Answer 12

Carbonic anhydrase II

(Notice no medulla = osteopetrosis)

Question 13

This pt is at increased risk for:

Answer 13

Osteosarcoma and high-output cardiac failure

(Mosaic pattern of lamellar bone = Paget’s)