Pathology Iii: Notes: Bone & Joint Pathology

Front 1

Hereditary Dz: Achondroplasia

Back 1

inherited dwarfism, auto. dominant, mutation: FGFR3

Mutation inhibits cartillage synth > early growth plate dusion.

Short extremities. Other stuff is normal

Front 2

Osteogenesis Imperfecta

Back 2

aka brittle bone dz.

issues w/ sytn of Type I collagen.

generalized osteopenia, thin sclera (blue) w/ blue hue, hypermobility.

Also deafness

Type I (blue sclera), Type III (blue >> white sclera), Type IV (normal sclera). These are dominant.

Type II: Autosomal recessive, DEAD!

Front 3

Osteopetrosis (Albers-Schonberg Dz)

Back 3

aka marble bone dz.

decreased osteoclast function.

Thickened, brittle bones; reduced medullary cavity - myelophthisic process

extramedullary hematopoeisis, cranial nerve compression > blindness, deafness.

X-ray: osteosclerosis, broadened metaphysis (ERLENMEYER FLASK shaped deformity in long bones).

Front 4

Two types of Osteopetrosis (Albers-Schonberg Dz)

Back 4

Autosomal Recessive: infants, children, early death due to anemia, infection, hemorrhage.

Autosomal Dominant (benign type): adults, fractures, mild anemia, cranial nerve impingement.

Carbonic Anhydrase II deficiency: renal tubular acidosis and cerebral calcification.

Front 5

Paget Disease (Osteitis Deformans)

Back 5

dz of bone remodelling (localized). Thickened but weak bones.

after 40 yo, european ancestory.

Mono-ostotic, Polyostotic (85%).

Skull common location, also Iliac crest. Hat doesn't fit anymore.

Facial bones may produce lionlike facies.

Micro: MOSAIC pattern, haphazard arrangement of cement lines

Front 6

Clinical features of Paget dz

Back 6

Warmth of overlying skin due to hypervascularity. Fractures.

INCREASED RISK OF OSTEOGENIC SARCOMA.
Complications: AV shunts within marrow > high cardiac failure.

Lab: Elev Alk Phosphatase, Increased Urinary Hydroxyproline (bone breakdown marker)

Front 7

What's the bone breakdown markder?

Back 7

hyroxyproline

Front 8

Osteoporosis

Back 8

most common bone dz in US.

postmenopausal female, elderly, high in Caucasian, lack of excercise.

Genetic dz: OGI, Gaucher Dz
immobilization, endocrinopathies (cushings, thyrotoxicosis), malnutrition (Vit C, D, Ca), corticosteroids.

Front 9

What's a Colles fracture?

Back 9

distal radius fracture (fall on outstretched hands).

Front 10

Bone in osteoporosis

Back 10

bone formed normally but in decreased amounts

Labs in Osteoporosis are NORMAL.

Front 11

Osteomalacia and Rickets

Back 11

Decreased mineralization of bone.

Def or abnormality of Vitamin D. (dietary def, malabsorption, low sunlight, renal and liver failure).

Front 12

Rickets

Back 12

Children

Enchondral bone formation affected.

Craniotabes, frontal bossing, Rachitic rosary, Pectus carinatum, bowing of the leg.

Front 13

Osteomalacia

Back 13

Adults: vertebrae, hips and wrists.

Use Lab finding: ABNORMAL, low Ca, and Phosphorus, High Alk Phosphatase.

Front 14

Osteomyelitis: Pyogenic

Back 14

hematogenous spread, affects meaphysis where feeding arteries come in.

Staph Aureus, E. Coli, Strep, Gonococci, HI

Sickle cell pt: Salmonella

IVDA and diabetics: Pseudomonas

formation of Sequestrum (central necrotic bone), and involucrum (new bone formation surrounding sequestrum)

Tx: drainage, antibiotics

Front 15

Complications of osteomyelitis

Back 15

fracture, intraosseous (Broadie) abscess, SAA amyloid, SCC (rare), osteogenic sarcoma (rare)

Front 16

Tuberculous Osteomylitis

Back 16

1% of TB cases. Thoracic and Lumbar (Pott dz) vertebrae

Complications: compression fracture, Psoas abscess, Amyloidosis.

Front 17

Osteitis fibrosa cystica (Von Recklinghausen dz of bone)

Back 17

different from Von Recklinghausen dz aka Neurofibromatosis I

------------------

Excess PTH, so Osteoclast activated.

could be PT adenoma or hyperplasia.

Excess bone resportion, Cystic spaces in trabecular bone. BROWN TUMOR (fibrosis and hemmorhage in the cysts)

Front 18

Hypertrophic Osteoarthropathy

Back 18

end of long bone: periosteal new bone formation, digital clubbing.

painful swellings of wrist, fingers, angkles, knees or elbows.

arthritis of ajdacent joints.

Etiology: bronchogenic carcinoma, chronic lung dz, haeart dz, IBD

Front 19

Benign Tumors: Osteoma

Back 19

freq. skull and facial bones.

Hyperostosis frontalis interna: osteoma extends into orbit or sinuses.

Assoc. w/ Gardner Syndrome (a familial polyposis)

Front 20

Osteoid Osteoma

Back 20

benign, painful growth of diaphysis (tibia or femur).

Young males.

PAIN WORST AT NIGHT AND RELIEVED BY ASPIRIN.

small lesions in Ctx of bone

Front 21

Osteoblastoma

Back 21

larger than 2 Cm and involves vertebrae (othewise same as osteoid osteoma)

Front 22

Osteochondroma (exostosis)

Back 22

benign bony metaseal growth. have a Cap of cartillage**.

adolescent males.

May be multiple, symmetrical: (osteochondromatosis)

Front 23

Enchondroma

Back 23

benign, cartillage in medullary cavity of hand and feet. Found accidently

Front 24

Multiple Endchodromas

Back 24

Ollier Dz: non-herditary, pain and fracture, may transform to chondrosarcoma.

Maffucci syndrome: multiple endchoromas, hemangiomas, increased risk of malignant tranformation, ovarian carcinoma, and brain gliomas.

Front 25

Malignant Tumors of Bone: Osteosarcoma (osteogenic sarcoma)

Back 25

Most common, primary malignant tumor of bone.

Higher in young males, pt's with familial retinoblastoma.

occurs in METAPHYSIS, Codman's triangle, sunburst pattern.

Most Common near the KNEE (distal femuar, proximal tibia)

Histo: anaplastic cell producing osteoid (bone producing tumor)

Front 26

Loci of Tumors

Back 26

Epiphysis: Giant Cell Tumor (middle age FEMALES)

Metaphysis: Osteosarcoma (young teen males)

Diaphysis: Ewing's Sarcoma

Front 27

Secondary Osteosarcoma

Back 27

elderly patients, assoc. w/ Paget Dz, irradiation and osteomyelitis.

Highly AGRESSIVE.

Front 28

Chondrosarcoma

Back 28

malignant tumor of chondroblast

Males, Middle ages

Involves pelvic bones, shoulder girdle, spine

Enlarging mass

Histo: atypical chondrocytes and blasts, often MULTIPLE nuclei in a lacuna.

Front 29

Giant Cell Tumor (Osteoclastoma)

Back 29

Females, 20-50 yo.

SOAP Bubble appearance

Gross: RED BROWN mass, around KNEE, at EPIPHYSIS

locally agressive with high recurrence.

Front 30

Ewing Sarcoma

Back 30

malignant tumor of UNDIFFERENTIATED cells in Marrow cavity.

most common in Teen males.

t (11;22) EWS-FL11 fusion protein.

Xray: "onion-skin" layer of new periosteal bone.

Diaphysis

Micro: HOMER Wright pseudorosettes, sheets of undifferentiated small round blue cells resembling lymphocytes.

Front 31

Osteoarthritis (degenerative joint dz)

Back 31

most common form of arthritis, increases with age.

**Worsens with repetitive motion**. Xray: narrowing of joint spaces.

common in wt bearing joints: knee, hips, spine.ASSYMETRIC

Eburnation (polishing) of exposed bone.

Has osteophytes (reactive bony outgrowth).

Front 32

Heberden nodes and Bouchard nodes

Back 32

Heberden: osteophytes at distal interphalangeal joints (DIP)

Bouchard: osteophytes in proximal interphalangeal (PIP) joints.

Front 33

RA

Back 33

RA factor: IgM auto Ab., synovial proliferation, small joints (hand, feet), SYMMETRICAL and migratory.

MORNING STIFFNESS that improves with activity.

HLA-DR4 and DR1

x-ray: juxtaarticular osteoporosis

PANNUS FORMATION: prolif of synovium and granulation tissue over the cartillage of the joint.

Lab: Elev. ESR, RA factor pos. (titer correclates with severity).

Front 34

Felty Syndrome

Back 34

RA + splenomegaly and neutropenia

Front 35

Caplan Syndrome

Back 35

RA and pneumonoconiosis

RA also associated with Sjogren Syndrome and Amyloidosis.

Front 36

Ankylosing spondylitis

Back 36

young men, HLA-B27, sacroiliac joints and spine (bamboo spine), assoc. w/ inflammatory bowel dz

Front 37

Reiter Syndrome

Back 37

triad: conjunctivitis, urethritis, arthritis

can't see, pee or climb a tree

HLA-B27, may follow a venereal dz

Front 38

Enteropathic arthritis

Back 38

found in 20% Ulcerative Colitis pts, assoc. w/ HLA-B27

Front 39

Psoriatic arthritis

Back 39

mild, slow progressive arthritis, assoc with B27, 5-10% pts with psoriasis

Front 40

Gout

Back 40

hyperuricemia and deposition of monosodium urate crystals due to overproduction or underexcretion of uric acid.

Big toe involvement, aspiration: NEGATIVE BIREFRINGENT, NEEDLE SHAPED URIC ACID CRYSTALS.

Tophi appears as chalky white deposits.

Front 41

Secondary Gout

Back 41

only 10% cases:

Excessive cell breakdown in leukemia.

Renal dz

Lesch-Nyhan Syndrome: HPRT deficiency, X-linked, mental retardation, SELF-MUTILATING behavior.

Front 42

Pseudogout (chondrocalcinosis)

Back 42

older >50 yo

deposition of Calcium pyrophosphate crystal.

POSITIVE BIREFRINGENT, RHOMBOID-SHAPED CRYSTALS.

Knee joint most common

Front 43

Polymyositis

Back 43

autoimmune myopathy, adults, bilateral proximal muscle weakness

Front 44

Dermatomyositis

Back 44

children and adults.

SKIN RASH OF UPPER EYELIDS

perifascicular fiber atrophy

Front 45

inclusion body myositis

Back 45

older males > 50 yo

assymetrical distal muscle weakness

EM: filamentous inclusion

Front 46

Myesthenia gravis

Back 46

autoantibodies against ACh-R, facial muscles, ptosis and diplopia

WEAKNESS WORSENS with repeated contractions.

Front 47

Eaton-Lambert syndrome

Back 47

a paraneoplastic syndrome of small cell lung cancer.

autoantibodies against Calcium channel.

WEAKNESS IMPROVES with repeated contractions.

involves proximal larger muscles.

Front 48

Duchenne Muscular dystrophy

Back 48

X-linked, absence of dystrophin protein.

Sx by age 5, calf pseudohypertrophy, weakness of proximal shoulder and pelvic girdles

Heart failure

Lab: serum creatine kinase

Dx by biopsy or PCR.

Front 49

Becker muscular dystrophy

Back 49

not as severe as DMD

ALTERED dystrophin protein

no cardiac involvement

Front 50

Guillain-Barre syndrome

Back 50

follows viral illness.

ascending paralysis

inflammation and demyelination of peripheral nerves

5% fatal (respir. failure)