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50 Cards in this Set

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Hereditary Dz: Achondroplasia
inherited dwarfism, auto. dominant, mutation: FGFR3

Mutation inhibits cartillage synth > early growth plate dusion.

Short extremities. Other stuff is normal
Osteogenesis Imperfecta
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!
Osteopetrosis (Albers-Schonberg Dz)
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).
Two types of Osteopetrosis (Albers-Schonberg Dz)
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.
Paget Disease (Osteitis Deformans)
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
Clinical features of Paget dz
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)
What's the bone breakdown markder?
hyroxyproline
Osteoporosis
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.
What's a Colles fracture?
distal radius fracture (fall on outstretched hands).
Bone in osteoporosis
bone formed normally but in decreased amounts

Labs in Osteoporosis are NORMAL.
Osteomalacia and Rickets
Decreased mineralization of bone.

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

Enchondral bone formation affected.

Craniotabes, frontal bossing, Rachitic rosary, Pectus carinatum, bowing of the leg.
Osteomalacia
Adults: vertebrae, hips and wrists.

Use Lab finding: ABNORMAL, low Ca, and Phosphorus, High Alk Phosphatase.
Osteomyelitis: Pyogenic
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
Complications of osteomyelitis
fracture, intraosseous (Broadie) abscess, SAA amyloid, SCC (rare), osteogenic sarcoma (rare)
Tuberculous Osteomylitis
1% of TB cases. Thoracic and Lumbar (Pott dz) vertebrae

Complications: compression fracture, Psoas abscess, Amyloidosis.
Osteitis fibrosa cystica (Von Recklinghausen dz of bone)
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)
Hypertrophic Osteoarthropathy
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
Benign Tumors: Osteoma
freq. skull and facial bones.

Hyperostosis frontalis interna: osteoma extends into orbit or sinuses.

Assoc. w/ Gardner Syndrome (a familial polyposis)
Osteoid Osteoma
benign, painful growth of diaphysis (tibia or femur).

Young males.

PAIN WORST AT NIGHT AND RELIEVED BY ASPIRIN.

small lesions in Ctx of bone
Osteoblastoma
larger than 2 Cm and involves vertebrae (othewise same as osteoid osteoma)
Osteochondroma (exostosis)
benign bony metaseal growth. have a Cap of cartillage**.

adolescent males.

May be multiple, symmetrical: (osteochondromatosis)
Enchondroma
benign, cartillage in medullary cavity of hand and feet. Found accidently
Multiple Endchodromas
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.
Malignant Tumors of Bone: Osteosarcoma (osteogenic sarcoma)
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)
Loci of Tumors
Epiphysis: Giant Cell Tumor (middle age FEMALES)

Metaphysis: Osteosarcoma (young teen males)

Diaphysis: Ewing's Sarcoma
Secondary Osteosarcoma
elderly patients, assoc. w/ Paget Dz, irradiation and osteomyelitis.

Highly AGRESSIVE.
Chondrosarcoma
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.
Giant Cell Tumor (Osteoclastoma)
Females, 20-50 yo.

SOAP Bubble appearance

Gross: RED BROWN mass, around KNEE, at EPIPHYSIS

locally agressive with high recurrence.
Ewing Sarcoma
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.
Osteoarthritis (degenerative joint dz)
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).
Heberden nodes and Bouchard nodes
Heberden: osteophytes at distal interphalangeal joints (DIP)

Bouchard: osteophytes in proximal interphalangeal (PIP) joints.
RA
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).
Felty Syndrome
RA + splenomegaly and neutropenia
Caplan Syndrome
RA and pneumonoconiosis

RA also associated with Sjogren Syndrome and Amyloidosis.
Ankylosing spondylitis
young men, HLA-B27, sacroiliac joints and spine (bamboo spine), assoc. w/ inflammatory bowel dz
Reiter Syndrome
triad: conjunctivitis, urethritis, arthritis

can't see, pee or climb a tree

HLA-B27, may follow a venereal dz
Enteropathic arthritis
found in 20% Ulcerative Colitis pts, assoc. w/ HLA-B27
Psoriatic arthritis
mild, slow progressive arthritis, assoc with B27, 5-10% pts with psoriasis
Gout
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.
Secondary Gout
only 10% cases:

Excessive cell breakdown in leukemia.

Renal dz

Lesch-Nyhan Syndrome: HPRT deficiency, X-linked, mental retardation, SELF-MUTILATING behavior.
Pseudogout (chondrocalcinosis)
older >50 yo

deposition of Calcium pyrophosphate crystal.

POSITIVE BIREFRINGENT, RHOMBOID-SHAPED CRYSTALS.

Knee joint most common
Polymyositis
autoimmune myopathy, adults, bilateral proximal muscle weakness
Dermatomyositis
children and adults.

SKIN RASH OF UPPER EYELIDS

perifascicular fiber atrophy
inclusion body myositis
older males > 50 yo

assymetrical distal muscle weakness

EM: filamentous inclusion
Myesthenia gravis
autoantibodies against ACh-R, facial muscles, ptosis and diplopia

WEAKNESS WORSENS with repeated contractions.
Eaton-Lambert syndrome
a paraneoplastic syndrome of small cell lung cancer.

autoantibodies against Calcium channel.

WEAKNESS IMPROVES with repeated contractions.

involves proximal larger muscles.
Duchenne Muscular dystrophy
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.
Becker muscular dystrophy
not as severe as DMD

ALTERED dystrophin protein

no cardiac involvement
Guillain-Barre syndrome
follows viral illness.

ascending paralysis

inflammation and demyelination of peripheral nerves

5% fatal (respir. failure)