Pathology - Block 3 Ortho

Front 1

Activating, Point mutation in FRFG3 receptor results in _

What are the clinical manifestations?

Back 1

i. Achondroplasia

rhizomelic shortening of limbs (proximal ) , normal trunk size, normal IQ

Hypertrophic growth plate, clusters of large chondrocytes

Front 2

Missense or Point Mutation in FGFR3 receptor results in _

What are the clinical manifestations?

Back 2

ii. Thanatophoric dwarfism

Severe limb shortening (distal, aka micromelia) , small trunk, Pulmonary hypoplasia, respiratoy insufficiency, death

diminished chondrocyte proliferation (#), but normal size

Front 3

Child brought to ER by parents who tripped, fell, and broke leg.

Assuming this child has an inheritated disorder that is the underlying cause, what is the dx?

Back 3

Osteogenesis Imperfecta - AD mutaiton in COL1A1 affecting type 1 collagen.

Front 4

Child brought to ER by parents who tripped, fell, and broke leg. You find out this child has a mutaiton in COL1A1. What are other clinical manifestations you may see in this patient?

Back 4

(osteogensis imperfecta) - deficient type 1 collagen --> deficiency in bone matrix

hearing loss, blue sclera. Distorted teeth, subluxed lenses

Front 5

Mutation in COL2A1 affecting type II collagen

Back 5

Achondrogenesis II

Front 6

patient complains of hearing loss or facial palsy. They feel heavy when they walk, hx of fractures, repeated infections, and anemia. Dx?

Back 6

Osteopetrosis (Osteo = bone, Petrosis = thick, heavy)


usu d/t a deficiency of carbonic anhydrase II (or CIC-7 chloride channel)

Front 7

Menopausal osteoporosis is (high/low) bone turnover

Senile?

Back 7

high

low

Front 8

Older male c/o of pain in legs. P/E shows large face, bowing of legs, warm legs, hepatosplenomegaly. X ray of head shows “cotton wool” appearance. Lab shows markedly high alkaline phosphatase. Dx?

Back 8

Paget’s Disease (Osteitis Deformans)

--Note that "cotton wool" apepearance means patches of sclerotic bone and is essentially pathogneumonic for paget's

Front 9

Older patient complains of pain in legs. Physical exam shows a white male with a large face, bowing of legs, and hepatosplenomegaly. Lab work shows markedly elevated alkaline phosphatase. This patient has a risk of developing what conditions?

Back 9

Malignant Osteosarcoma or High output Cardiac Failure

(this question is describing paget's disease)

Front 10

Vitamin D deficiency in children presents in what way?

What is this called?

Back 10

rachitic rosary, Harrisons groove (depression along insertion of diaphragm into rib cage), pigeon chest, and bowing of legs

RICKET'S

Front 11

Vitamin D deficiency in adults is called _

If this is secondary to renal disease it is called _

Back 11

Osteomalacia (high turnover, ie When bone resorption > bone formation )

renal osteodystrophy

Front 12

Renal osteodystrophy favors _ activity

Back 12

osteoclast

Front 13

Affects small bones; cysts form in the medullary portion of index and middle fingers (radial side)

Back 13

osteitis fibrosa cystica (advanced renal osteodystrophy)

Front 14

A brown tumor is the result of _

Back 14

hemorrhage of a cyst, resulting in hemosiderin deposits and macrophage infiltrates

---- as in Osteitis fibrosa cystica - cysts in the radial side of index and middle fingers

Front 15

3 phases of bone healing?

Back 15

1. Inflammatory phase (hematoma) 2. Reparatative phase, (fibroblasts will transform hematoma, after 1st week - soft procallus then later new catilage) 3. Remodeling phase - takes 1-2 years bony callus has to be replaced.

Front 16

Osteonecrosis mainly affects _ bone.

Back 16

cancellous

Front 17

4 yo child complains of throbbing pain, they also have a fever. X ray shows lytic focus surrounded by sclerotic zone.
What part of the bone is likely to be involved?

Back 17

(osteomyelitis)

METAPHYSIS

(In adults, epiphysis and subchondral regions are affected, neonates could be either e or m)

Front 18

An older male with prostate cancer has metastasis to the bone. What is the likely reaction of bone to the tumor?

Back 18

Osteoblastic

(kidney/liver.thyroid: osteolytic; breast: either)

Front 19

20 yo man presents with a mass on lower femur, it doesn’t hurt but when you feel it, it’s hard. You find that the tumor is in the metaphysis of the femur. Dx?

Back 19

Osteochrondroma

Front 20

20 yo man presents with a mass on lower femur, it doesn’t hurt but when you feel it, it’s hard. You find that the tumor is in the metaphysis of the femur. If this patient has familial osteochondromatosis, what associated condition may ensue?

Back 20

First of all, the ? is talking about osteochondroma, a benign tumor in the metaphysis


May form MALIGNANT CHONDROSARCOMA

Front 21

15 yo presents who woke up in the middle of the night with severe pain in knee. A mass is biopsied, and reveals interconnecting trabeculae rimmed by osteoblasts. Dx?

Back 21

Osteoid osteoma – osteogenic
-- affects males 10-25, causes nocturnal pain

TREAT WITH EXCISION. DO NOT DO RADIOTHERAPY, IT WILL CAUSE MALIGNANT TRANSFORMATION

Front 22

What bone tumor is Radiotherapy NOT a good idea for? (as it may cause malignant transformation)

Back 22

Osteoid osteoma

Front 23

30 yo woman has mass around her knee joint. X ray shows a "bubble soap" lesion. Dx?

Back 23

iii. Giant Cell Tumor

A few things to note: it occurs in Women, and the bubble soap appearance is classic.

This is a recurrent tumor

Front 24

Bone tumor that invovles bones of the hand and feet?

Back 24

Enchondroma

Front 25

“Codman” triangle is characteristic for _.

What is this condition predisposed by?

Back 25

Osteosarcoma (10-20 yo males at metaphysis around knee joint, with elevated alkaline phosphatase)

Predisposed by paget’s disease and famililal retinoblastoma (loss of Rb)

Front 26

10 yo boy has pain in leg. X ray shows a lesion with an "onion skin appearance". Genetic screening is likely to show ...

Back 26

an 11:22 chromosomal translocation

This is describing Ewing Tumor

Front 27

23 yo man has had pain in the area of the right knee for past year. On exam, there is mild tenderness over 2 cm focal area just below the patella laterally over tibia, on radiograph of right leg show a 3 cm broad based excresecence projecting from the metaphyseal region of the upper tibia. The lesion is excised. Dx?

Back 27

. Osteochondroma

Front 28

Woman older than 50, c/o of pain in major joints (particularly weight bearing – hip and knee). They may limp, no tenderness on palpation, but decreased ROM. May wake them up at night. NO constitutional manifestations (no fever, no infection). Dx?

Back 28

Osteoarthritis
- d/t wear and tear

Front 29

Middle aged woman complains of morning stiffness in hands (bilateral), greater than 6 weeks. Warm packs or activity help it get better. She also complains of malaise. What is the classical hallmark of this disease?

What gene is often ass with this?

Back 29

(RA)

PANNUS (chronic inflammation of synovial membrane), RA factor

HLA-DR4

Front 30

Middle aged patient c/o of stiffness in morning, but she also has dry eyes with conjunctivitis and difficulty swallowing. P/E shows swollen cheeks. What lab work do you expect in these patients?

Back 30

(Sjogrens)

Anti Ro and Anti La (SSA and SSB)

Front 31

Woman who has established rheumatoid arthritis for 10+ years, comes in for repeated chest infection. PE also shows an enlarged spleen. Dx?

What lab work do you expect in this patient?

What is she at risk for the the very advanced stages of this disorder?

Back 31

(2/3 of these are dx of felty’s syndrome)
P-ANCA, (+) ANA

Advanced stages may cause ulcers in legs d/t vasculitis

Front 32

Seronegative Sponyloarthropathies have what in common?

What conditions are included in this?

Back 32

High incidence of HLA-B27, enthesitis, (-) RA, axial involvement

b. Ankylosing Spondylitis aka Marie-Strumpell’s disease, Reiter Syndrome (reactive arthritis), Psoriatic Arthritis

Front 33

Middle aged individual complains of asymmetric arthritis with conjunctivitis and burning sensation with urination. Dx?

Back 33

Reiter Syndrome

These patients can present with: sacroilitis with low back pain, arthritis, enthesopathy (Achilles especially), plantar fasciitis, calcaneal spurring, “sausage” digits.

Front 34

45 yo man presents with acute onset of knee pain. Pr shows hot, red, tender swollen joint. Microscopy of aspiration shows basophilic rhomboid crystals. Dx?

Back 34

Pseudogout - deposition of calcium pyrophosphate dehydrate crystals

Front 35

a reaction from other disorders, such as COPD, CHF, Crohn’s disease, etc.
i
CP: Clubbing of fingers, painful swelling and tenderness on peripheral joints

Back 35

Hypertrophic osteoarthropathy

Front 36

25 yo person feels a bulky mass on the underside of thigh. Mass is firm, deeply seated, and painless. No indication of infection. MRI shows large tumor. Biopsy reveals a glandular -like histological appearance lined by epithelial like cells. What is the gene mutation involved?

Back 36

(Synovial Sarcoma) - characteristic biphasic growth pattern, patient 20-40 yr

Translocation (x:18)

Front 37

Patient presents with swollen, locked knee joint. You aspirate fluid and find no abnormalities. Biopsy shows brown synovial membrane with finger-like projections. Dx?

What is unique about these tumors regarding treatment?

Back 37

Pigmented Villonodular Synovitis

Recurrence is VERY high, because it is nearly impossible to remove all synovial cells. These patients are likely to have repeated surgeries every few years.

Front 38

Solitary, slow growing, painless mass that involves tendon sheaths on hand. Dx?

Back 38

Giant Cell Tumor of Tendon Sheath (Nodular Tenosynovitis)

Examples include de Quervains disease and trigger finger

Front 39

Patient comes in complaining of a rapid growth in front of arm. Biopsy shows variation in fibroblasts, disarray in size and shape. Dx?

Back 39

Nodular Fasciitis

Front 40

Myositis Ossificans usually is a result of _

Back 40

trauma in young adults

body deposits bone in muscle

Front 41

Post-partum woman complains of a mass. MRI shows mass inside the anterior abdominal wall within rectus sheath.

Back 41

(Abdominal) Deep – Seated Fibromatoses

Front 42

A large infiltrative mass composed of well differentiated fibroblasts found intrabdominally in a patient who has famillial adenomatous polyposis is called _

Back 42

Gardner syndrome

Front 43

You remove a tumor from a patient. HIsto shows Spindle cells arranged in a storiform pattern + foam cells, hemosiderin deposits, multinucleated giant cells and hyperplasia of the overlying epidermis.

Back 43

Benign Fibrous HISTIOCYTOMA (Dermatofibroma)

Front 44

Middle aged man c/o flu symptoms and numbness and tingling in end of feet. One week later, numbness moves up the leg. Deep tendon reflexes are lost. dX?

How do you treat?

Back 44

Guillan Barre Syndrome (inflammatory)

Admit for observation, most cases are self resolving

Front 45

Patient comes in because of facial palsy. He also complains of deafness, hx says it started 10-15 years ago but would start and go away. Now it is there all the time. What should you suspect?

What would be the histological appearance?

Back 45

Schwannoma (Neurilemmoma)

Histo: 2 forms, either Antoni A (nuclei of schwann cells surround Verocay), or Antoni B (loosely arranged)

Front 46

Patient comes in c/o hyperpigmentation of skin. PE shows scattered skin lesions with occasional nodules (found particularly on hand). What gene is involved in this case?

Back 46

(Neurofibroma)

MUTATION IN NEURO FILAMENT 1 TUMOR SUPPRESSOR GENE (CHROMOSOME 17)

Front 47

Librarian who was previously healthy starts urinating on himself. dX?

Back 47

Hereditary sensory and autonomic neuropathies (HSAN)

--AFFECTS sensory and autonomic nerves!

Front 48

Middle aged woman complains of pain in the sole of her foot, particularly between second and third metatarsal bones. Dx?

Back 48

Morton’s neuroma

– causes foot pain and compresses intermetatarsal digital nerve.

Front 49

Female c/o of drooping of eyelid that occurs later in the day. May have problem chewing (dysphagia).
A. What do you suspect?
B. What test will you run to confirm the diagnosis?
C. What other conditions is this associated with?

Back 49

a. Myasthenia Gravis
b. Edorphonium (ACHE Inhibitor)

c.Associated with thymic hyperplasia or tumors.

Front 50

Lambert-Eaton Syndrome is a paraneoplastic syndrome associated with _.

What is released from the tumors?

Back 50

small cell carcinoma of the lung.

Autoantibodies released from Lung react with presynaptic calcium channels leading to a defect in acetylcholine release.

Front 51

All types of _ cause an increase in creatine phosphokinase.

In _, the CPK is normal.

Back 51

Dystrophy (Duchennes, Beckers, etc)

Myopathies

Front 52

45 yo man c/o of picking up a cup and not being able to let it go. His hand stays contracted, eventually it relaxes. When he eats, he has difficulty swallowing. History of cataracts. Dx?

Gene mutation involved?

Back 52

e. Myotonic dystrophy

-- Autosomal dominant - adult onset, but anticipation occurs.

Tandem repeats in Myotonin protein kinase gene (MPK)

Front 53

A kid under 5 yo comes in and parents tell you he can’t run, he has a waddling gait. PE shows thin thighs with hypertrophied legs. He uses his hands to stand.Dx?

What is the mutation involved in this condition?

Back 53

Duchenne muscular dystrophy

X linked recessive with point and frameshift mutations involving dystrophin --> total failure of dystrophic synthesis

Front 54

Segment deletions of dystrophin gene results in _

At what point in life do clinical manifestations arise?

Back 54

Becker’s Muscular Dystrophy, results in a less functional dystrophin

later childhood (around 10 yo) --- similar to duchennes but less severe,

Front 55

Floppy Babies, normal CK level. Biopsy of muscle shows small dark rod shaped subsarcolemmal granules. Dx?

Back 55

Nemaline Myopathy*

Front 56

Pt says after gym they feel completely paralyzed. (could be induced by exercise, high carbohydrates, or cold). Dx?

Back 56

Ion channel myopathies


myotonia, hypotonic paralysis (may be hyperkalemic which results from a gene encoding a sodium channel protein, or hypokalemic which is due to a defective VG Ca channel)

Front 57

Patient undergoes surgery for various reason, succinylcholine is given. After a while, the patient has tachycardia, muscle spasms, hyperthermia, and then dies.

Back 57

Malignant Hyperpyrexia (malignant hyperthermia)

--- triggered by induction of anesthesia

Front 58

middle aged patient complains about pain and weakness in proximal muscles. PE shows rash around eyes, knuckles, or elbows. Dx?

Back 58

Dermatomyositis

Front 59

Older female previously healthy, complains of sudden onset, generalized myalagia. Biopsy of muscle shows rimmed vacuoles. Dx?

Back 59

Inclusion Body Myositis

(diagnostic finding is rimmed vacuoles)

Front 60

___ of MMPs
____of TIMP
are involved in the pathogenesis of aortic aneurysms

Also, what nutritional deficiencies contribute?

Back 60

Overexpression

Underexpression

Vitamin C and Copper

Front 61

Most common primary malignant tumor of bone?

Back 61

Multiple myeloma

second mc = osteosarcoma

Front 62

11:22 tranlocation

Back 62

Ewing's sarcoma (boys <15 yo, aggressice with early metastasis by responsive to chemo)

-->Onion skin appearance

Front 63

soap bubble appearance on x ray?

Back 63

Giant cell tumor (osteoclastoma)

peak incidence 20-40 yo, occurs at epiphyseal end of long bones

Front 64

onion skin appearance of bone (layers of new bone in periosteum)

Back 64

Ewing's sarcoma (boys <15 yo, aggressice with early metastasis by responsive to chemo)

Front 65

Codman's triangle?

Back 65

Osteosarcoma

Front 66

Periosteal elevation on x ray?

Back 66

Osteosarcoma

Front 67

may arise from an osteochondroma or appear as a primary tumor

Back 67

Chondrosarcoma

Front 68

anaplastic small cell, aggressive metastasis, good prognosis

Back 68

Ewings Sarcoma (11:22 translocation, boys <15 yo)

Front 69

most common malignant bone tumor in children

Back 69

Ewings sarcoma