Bone Pathology

Front 1

Gene mutation in Paget Disease?

Back 1

SQSTM1--causes increased osteoclast activity-->increased susceptibility to disease

Front 2

Translocation in alveolar rhabdomyosarcoma?

Back 2

t(2, 13) or t(1, 13) --> fusion of PAX3 gene and FOXO1a gene --> dysregulation of gene expression in tumor progenitor cell

Front 3

Cytokines that are increased post menopausal and play a role in osteoporosis?

Back 3

IL-1, IL-6, TNF alpha

Front 4

How does RANK play a role in osteoporosis?

Back 4

Stimulates osteoclast differentiation

Front 5

t(x:18) translocation?

Back 5

Synovial sarcoma

Front 6

SQSTM1 gene mutation?

Back 6

Paget disease

Front 7

Aplasia Cutis Congenita is often associated with what?

Back 7

Other syndromes, alopecia

Front 8

Ichthyosis results from what pathology?

Back 8

Increased cell to cell adhesion --> thick keratin layer because can't slough off

Front 9

How do you treat hemangioma?

Back 9

Just watch--spontaneously regress

Front 10

Albinism is inherited _____ while piebaldism is inherited ___.

Back 10

Albinism = AR, Piebaldism = AD

Front 11

What mutation plays a role in piebaldism?

Back 11

KIT protooncogene

Front 12

What enzyme is defective in albinism?

Back 12

Tyrosinase

Front 13

How do you treat congenital torticollis?

Back 13

Physical therapy

Front 14

Most limb reduction defects affect the upper or lower extremities?

Back 14

Upper

Front 15

What is the pathology in amelia vs meromelia?

Back 15

Amelia--suppression of limb bud development. Meromelia--arrest or disturbance of differentiation or growth

Front 16

Bowed legs and rachitic rosary?

Back 16

Rickets

Front 17

What is craniosynostosis?

Back 17

Premature closure of skull sutures--scaphocephaly or oxycephaly/turricephaly

Front 18

Is paternal or maternal age significant in achondroplasia?

Back 18

Paternal age

Front 19

Bossed forehead, bowed legs, flat nasal bridge, short stature?

Back 19

Achondroplasia

Front 20

Letal dwarfism?

Back 20

Thanatophoric dwarfism

Front 21

Telephone receiver femur...common cause of death?

Back 21

Pulmonary hypoplasia/respiratory insufficiency

Front 22

Blue sclera in OI is due to exposure of what?

Back 22

Choroidal veins

Front 23

OI have small misshapen and yellow teeth due to deficiency of what?

Back 23

Dentin

Front 24

Bowed legs, multiple fractures, blue sclera?

Back 24

OI

Front 25

Which type of OI is lethal?

Back 25

Type II--produces abnormal collagen. Others produce normal collagen but in fewer amounts

Front 26

Treatment for osteopetrosis?

Back 26

Bone marrow transplant--osteoclasts made from hematopoietic precursors

Front 27

Pathogenesis of osteopetrosis?

Back 27

Failure of osteoclast bone resorption so osteoblasts keep on laying down bone that is dense but fragile and brittle. Mutation in acidification (ie. carbonic anhydrase)

Front 28

Inheritance of ostepetrosis?

Back 28

AD or AR (apparent in utero)

Front 29

Erlenmeyer flask deformity?

Back 29

Osteopetrosis

Front 30

Enzyme defect in mucopolysaccharidosis?

Back 30

Acid hydrolase

Front 31

Accumulation in mucopolysaccharidosis?

Back 31

Glycosaminoglycans (dermatan sulfate, heparin sulfate, keratin sulfate)--chondrocytes usually metabolize glycosoaminoglycans. In this disease, the cartilage at growth plate is disorganized

Front 32

What is dystosis multiplex?

Back 32

Bone dysplasia--associated with mucopolysaccharidosis

Front 33

Tissue paper appearance?

Back 33

Gaucher disease

Front 34

Enzyme defect in Gaucher disease?

Back 34

Glucocerebrosidase--cleaves glucose from ceremide, which is a part of glucocerebroside

Front 35

Protein accumulation in Gaucher disease?

Back 35

Glucocerebroside

Front 36

Types of Gaucher disease?

Back 36

Type I: limited to mononuclear phagocytes, non-nuclear
Type II: Neuropathic form, acute CNS disease
Type III: intermediate

Front 37

What cytokines play a role in Gaucher disease?

Back 37

IL-1, IL-6, TNF alpha--cause bone erosion, fractures, bone pain

Front 38

Birbeck granules in EM?

Back 38

Langerhaans Histiocytosis

Front 39

Immunohistochemical staining in rhabdomyosarcoma for?

Back 39

Desmin, myoglobin

Front 40

Osteomyelitis affects which parts of the bone in children vs. adults?

Back 40

Children = metaphysis, Adults=epiphysis

Front 41

What is a sequestrum?

Back 41

Area of necrotic bone embedded in acute inflammation--associated with osteomyelitis

Front 42

What is an involucrum?

Back 42

New bone around sequestrum--associated with osteomyelitis

Front 43

Would you find an osteochondroma on the face or skull?

Back 43

No--only found on endochondral bones

Front 44

Osteochondroma has risk of transforming to what type of cancer?

Back 44

Chondrosarcoma

Front 45

Where do osteoid osteomas and osteoblastomas occur?

Back 45

Osteoid osteoma=femur, mid tibia. Osteoblastoma=vertebrae and long bones

Front 46

Osteosarcomas typically metastasize to what organ?

Back 46

Lung

Front 47

Which genes are implicated in osteosarcoma?

Back 47

RB, p53

Front 48

Codman's triangle sign is seen in which tumors?

Back 48

Osteosarcoma, Ewing's

Front 49

Immunohistochemical staining of Ewings/PNET will show what?

Back 49

CD99 (myc-2), FLI-1

Front 50

Triad of lytic skull lesions, DI, exopthalmos is indicative of what disease?

Back 50

Hand Schuller Christian Disease (type of Langerhaan's Histiocytosis)

Front 51

Bad prognostic factors of Langerhaans?

Back 51

Young age, multifocus

Front 52

Seborrheic skin lesions, failure to thrive, aggressive disemminated disease, multiple organ involvement?

Back 52

Letter-Siwe disease (type of Langerhaans)

Front 53

Self limited Langerhaans?

Back 53

Eosinophilic granuloma

Front 54

Compare unifocal and multifocal Eosinophilic granuloma

Back 54

Unifocal--older children, adults, skeleton, leading to fractures. Multifocal--young children, can expand to soft tissue, pituitary stalk. Both can regress spontaneously

Front 55

Most common childhood sarcoma?

Back 55

Rhabdomyosarcoma

Front 56

How do you treat rhabdomyosarcoma?

Back 56

Chemo and surgery

Front 57

Grape like tumor in hollow mucosal lined structures?

Back 57

Sarcoma botryoid subtype of rhabdomyosarcoma

Front 58

Alveolar rhabdomyosarcoma can also occur where?

Back 58

Deep extremity musculature

Front 59

How do osteoblasts and osteoclasts differ in activity in osteoporosis?

Back 59

Osteoblasts have less replicative potential. Osteoclasts have greater activity

Front 60

How is Paget Disease inherited?

Back 60

AD

Front 61

Osteonecrosis typically occurs where?

Back 61

Femoral head

Front 62

Osteonecrosis predisposes patients to what?

Back 62

Osteoarthritis

Front 63

What part of the bone is affected in osteonecrosis?

Back 63

Cancellous bone, marrow (cortex has collateral blood flow, cartilage is avascular)

Front 64

Epithelial and spindle cells in tumor?

Back 64

Synovial sarcoma

Front 65

Translocation implicated in synovial sarcoma?

Back 65

t(x:18)