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1. A 2-year-old boy is brought to the physician by his mother because she thinks he may have trouble hearing. She says he is having difficulty learning to speak because he probably cannot hear "a word anyone says to him." His aunt is deaf. The physician reviews the boy's chart and realizes that this patient has been in many times before due to multiple fractures. Physical examination shows small, discolored teeth, thin sclera with a blue hue, and multiple ecchymoses. Which of the following is the most likely diagnosis?

A.

Achondroplasia

B.

Child abuse

C.

Osteitis deformans

D.

Osteogenesis imperfecta

E.

Osteopetrosis

Doctor Physical Examination Form Cps

Answer: C.

Answer: C.

Table 27-1. Osteoarthritis (OA) Versus Rheumatoid Arthritis (RA)

Osteoarthritis (OA)

Rheumatoid Arthritis (RA)

"Wear and tear"

i

Systemic autoimmune disease (+) Rheumatoid factor (+) Rheumatoid nodules

Degeneration of articular cartilage

Synovial proliferation

Weight-bearing joints • Knees, hips, spine

Small joints • Hands and feet

Asymmetrical

Symmetrical and migratory

A. Osteoarthritis (Degenerative loint Disease)

1. Incidence a. Most common form of arthritis b. Risk increases with age c. Affects at least one joint in 80% of people over 70 years old

2. Clinical features a. Insidious onset of joint stiffness b. Deep, aching joint pain, which worsens with repetitive motion c. Decreased range of motion d. Crepitus e. Joint effusions and swelling f. Osteophytes may cause nerve compression

3. X-ray a. Narrowing of the joint space due to loss of cartilage b. Osteosclerosis and bone cysts c. Osteophytes (osteophytic lipping)

4. Pathogenesis a. Biomechanical: aging or wear and tear of articular cartilage b. Biochemical: chondrocyte injury and abnormal collagen activity c. Predisposing factors include obesity, previous joint injury, ochronosis, diabetes, trauma, and hemarthrosis

5. Pathology a. Weiglit-bearing joints —» knees, hips, and spine b. Asymmetrical involvement c. Degeneration and loss of articular cartilage d. Eburnation (exposed bone becomes polished)

e. Subchondral bone sclerosis f. Subchondral bone cysts g. Loose bodies (joint mice): free-floating fragments of cartilage and bone h. Osteophytes (bone spurs): reactive bony outgrowths i. Heberden nodes: osteophytes at the distal interphalangeal (DIP) joints ii. Bouchard nodes: osteophytes at the proximal interphalangeal (PIP) joints Rheumatoid Arthritis

1. Definition: a systemic, chronic, inflammatory disease characterized by progressive arthritis, production of rheumatoid factor, and extra-articular manifestations

b. Highest incidence at age 20-50

c. Genetic predisposition (HLA-DR4 and DR1)

3. Etiology a. Thought to be caused by an autoimmune reaction triggered by an infectious agent in a genetically susceptible individual

4. Clinical features a. Hand, wrist, knee, and ankle joints most commonly involved b. Tends to have symmetrical involvement c. Morning stiffness that improves with activity d. Fusiform swelling, redness, and warmth of the proximal interphalangeal (PIP) joint

5. X-rays a. Juxta-articular osteoporosis and bone erosions b. Joint effusion

6. Pathology a. Diffuse proliferative synovitis b. Pannus formation: proliferation of the synovium and granulation tissue over the articular cartilage of the joint c. Fibrous and bony ankylosis (joint fusion)

d. Joint deformities i. Radial deviation of the wrist and ulnar deviation of the fingers ii. Swan neck: hyperextension of PIP and flexion of distal interphalangeal (DIP) joints iii. Boutonniere: flexion of PIP and extension of DIP joints e. Baker cysts: synovial cyst in the popliteal fossa

7. Lab a. Elevated sedimentation rate and hypergammaglobulinemia b. Rheumatoid factor (RE)

i. Usually an IgM autoantibody against the Fc fragment of IgG

ii. Positive in 80% of patients with RA

iii. May circulate and form immune complexes iv. Titer of RP correlates with the severity of the arthritis and prognosis 8. Extra-articular manifestations a. Systemic symptoms include low-grade fever, malaise, fatigue, lymphadenopathy, and weakness b. Rheumatoid nodules (25%)

i. Subcutaneous skin nodules ;

ii. Usually on extensor surfaces of the forearms or elbows iii. Composed of central fibrinoid necrosis surrounded by epithelioid ■ macrophages, lymphocytes, and granulation tissue iv. May also be found in the heart valves, lung, pleura, pericardium, and spleen c. Arteries may show acute necrotizing vasculitis due to circulating antigen-antibody complexes.

d. Sjogren syndrome (15%)

e. Felty syndrome: RA + splenomegaly + neutropenia f. Caplan syndrome: association with pneumonoconiosis g. Amyloidosis

C. Seronegative Spondyloarthropathies

1. Ankylosing spondylitis a. Occurs predominantly in young men with HLA-B27 (90%)

b. Usually involves the sacroiliac joints and spine c. May be associated with inflammatory bowel disease

2. Reiter syndrome a. Males > females; onset usually in the 20s or 30s b. Classic triad: conjunctivitis, urethritis, arthritis c. Arthritis affects the ankles and knees d. Onset often follows a venereal disease or bacillary dysentery e. Associated with HLA.-B27 (90%)

3. Enteropathic arthritis a. Occurs in 10-20% of patients with ulcerative colitis b. May develop peripheral arthritis or spondylitis c. May respond with treatment of the ulcerative colitis ;

d. Associated with HLA-B27

4. Psoriatic arthritis a. Affects 5-10% of patients with psoriasis b. Often mild and slowly progressive arthritis c. Pathology similar to rheumatoid arthritis d. Associated with HLA-B27

D. Arthritis Related to Crystal Deposition Bridge to Biochemistry

1. Gout a. Definition: hyperuricemia and deposition of monosodium urate crystals in joints, resulting in recurrent bouts of acute arthritis

Uric acid is the end product of purine metabolism.

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