Pathology - Skeletal System

Question 1

Sx’s: saber shins, bone disease of nose, palate, skull, gummas

Answer 1

Skeletal Syphilis

Question 2

MC locations to see osteoprosis

Answer 2

Vertebrae Hip Distal radius

Question 3

Def: reduction in trabecular bone mass

Answer 3

Osteoporosis

Question 4

Def: Infection of BM in children

Answer 4

Osteomyelitis

Question 5

Labs for Osteoporosis

Answer 5

All normal levels

Question 6

Where in the bone does the Osteomyelitis occur in children vs adults

Answer 6

Children = metaphysis Adults = epiphysis

Question 7

Causes of Avascular Necrosis…

Answer 7

MC = trauma/Fx/steroids SCD Drugs - Bisphos, EtOH Gaucher disease

Question 8

Def: AR defect in osteoclast function d/t CA II mutation preventing an acidic environment for bone resorption –> thick, heavy bones

Answer 8

Osteopetrosis

Question 9

Def: ischemic necrosis of bone and BM

Answer 9

Avascular (aseptic) Necrosis

Question 10

Sx’s: pigeon-breast, frontal bossing, rachitic rosary, bowing of legs

Answer 10

Rickets

Question 11

Def: malignant ST tumor in 20-40 yo pts w/ uniform spindle cells w/ scant cytoplasm and t(x;18)

Answer 11

Synovial sarcoma

Question 12

Sx’s: Bone Fx’s (erlynmeye flask), anemia, thrombocytopenia, CN impingement, Hydrocephalus, renal tubular acidosis

Answer 12

Osteopetrosis

Question 13

Def: poor endochondral bone formation w/ an FGFR3 mutation

Answer 13

Achondroplasia

Question 14

Sx’s: multiple Fx’s, blue sclera, hearing loss

Answer 14

Osteogenesis Imperfecta

Question 15

Labs for Rickets/Osteomalacia

Answer 15

Decreased Ca, PO4 (-) Increased PTH, AlkPhos

Question 16

Hereditary Leiomyomatosis is assc w/ which cancer and which gene defect

Answer 16

Cancer = RCC Gene = Fumarate hydratase

Question 17

Pathogens assc w/ Osteomyelitis

Answer 17

Staph (MC) N. Gonorrhoeae Salmonella Pseudomonas Pasteurella M. Tuberculosis

Question 18

Hist: mosaic pattern of lamellar bone (cement lines creating “puzzle piece” pattern

Answer 18

Paget Disease of Bone

Question 19

Complication of Paget Disease of Bone

Answer 19

High-output cardiac failure

Question 20

What is the difference b/w Fibrous Cortical Defect and Nonossifying Fibroma

Answer 20

FCD = < 5cm NF = > 5cm

Question 21

Tx for Osteopetrosis =

Answer 21

BM transplant

Question 22

Def: imbalance b/w osteoclast and osteoblast function in pts > 60 yo

Answer 22

Paget Disease of Bone

Question 23

Mutation assc w/ Nodular Fasciitis…

Answer 23

t(17;22) = MYH9-USP6

Question 24

Sx’s: short extremities w/ normal head/chest

Answer 24

Achondroplasia

Question 25

SQSTM1 mutation –> increased NF-kß

Answer 25

Paget Disease of Bone

Question 26

Stains + for Abs to SM and Desmin

Answer 26

Leiomyosarcoma

Question 27

Def: b/l defect in metaphysis of distal femur and proximal tibia in pts < 2 yo

Answer 27

Fibrous Cortical Defect

Question 28

What is the fusion gene assc w/ Synovial sarcoma

Answer 28

SS18-SSX1/X2/X4

Question 29

Def: self-limited fibroblastic and myofibroblastic proliferation occurring in young adults in the UE d/t trauma

Answer 29

Nodular Fasciitis

Question 30

Def: collagen I synthesis defect d/t COL1A1 or COL1A2

Answer 30

Osteogenesis Imperfecta

Question 31

Def: defective mineralization of osteoid d/t low vitamin D

Answer 31

Rickets - children < 1 yo Osteomalacia - adults

Question 32

Hist: blunt-ended, elongated nuclei w/ minimal atypia

Answer 32

Leiomyoma

Question 33

Sx’s: bone pain w/ systemic signs, Brodie abscess on X-ray

Answer 33

Osteomyelitis

Question 34

Sx’s: bone pain, increased hat size, hearing loss, lion-facies

Answer 34

Paget Disease of Bone