Week 2 Systemic sclerosis

Question 1

Define system sclerosis.

Answer 1

• systemic connective tissue disease
• a heterogenous group of disorders, with key feature being:
• Scleroderma=thickened hardened skin
• divided into limited and diffuse systemic scleroderma

Question 2

Describe limited scleroderma.

Answer 2

-limited skin sclerosis: hands, distal forearm>face, chest
-visceral involvement is delayed
-associated with pulmonary hypertension
CREST
1. Calcinosis- Ca2+ deposition can be anywhere
2. Raynaud’s phenomenon: reduced blood flow due to cold/temp changes: white (constriction)–>blue (cyanosis)–>red (hyper fusion). Can be painful
3. Esophageal dysfunction: fibrosis of lower 2/3 smooth muscle, food can get stuck, regurg, increased incidence of acid reflux
4. Sclerodactyly: contractors and ulcerations, hypopigmentation, swelling, tapering, ischemia
5. telangiectasia: small dilated blood vessels

Question 3

Describe diffuse systemic sclerosis.

Answer 3

• diffuse skin thickening of face,neck, chest, hands, arms, legs. Significant early extra-cutaneous manifestations
  1. Face involvement
• mask like facies
• thinned and/or retracted lips
• decreased oral aperture
• skin is tight with waxy texture
  2. Skin involvement
• edema
• induration-increased in fibrosis, thickened dermis seen
• atrophy
  3. can have systemic sclerosis w/out skin involvement
• extra cutaneous features

Question 4

Describe the extra cutaneous features of diffuse systemic sclerosis: MSK

Answer 4

MSK

• arhritis: symmetric, polyarticular, small/large joints
• tendon rubs
• muscle atrophy and or myositis

Question 5

Describe the extra cutaneous features of diffuse systemic sclerosis: GI

Answer 5

due to atrophy, fibrosis, inflammation

• esophagus: dilatation, impaired mobility, lower esophageal sphincter dysfunction, GERD
• Stomach: delayed emptying, gastric antral vascular ectasia “watermelon stomach”
• small intestines: atony with obstruction, stasis with malabsorption, pneumotosis cytoides
• large intestines: pseduo-diverticula, infarction

Question 6

Describe the extra cutaneous features of diffuse systemic sclerosis: pulmonary

Answer 6

• pulmonary fibrosis
• pulmonary hypertension
• superimposed infections
• microaspirations
• lung cancer

Question 7

Describe the extra cutaneous features of diffuse systemic sclerosis: CV

Answer 7

1. myocardial fibrosis
2. conduction deficits
3. pericarditis
4. pulmonary hypertension–>heart failure

Question 8

Describe the extra cutaneous features of diffuse systemic sclerosis: renal

Answer 8

• malignant hypertension due to overactive renin-angiotensin system
• renal insufficiency
• the two combined =scleroderma renal crisis
• seen in patients with rapidly progressive skin disease
• can be precipitated by steroid use
• intimal hyperplasia and fibrinoid necrosis of renal blood vessels (medium sized)
• treat with ACE inhibitors

Question 9

Describe localized scleroderma.

Answer 9

1. morphoea: plaque like, most common, oval lesion on 1 area of body
2. linear scleroderma: most common type in children, longitudinal band like lesions usually on limbs, can lead to joint contractors and muscle atrophy

Question 10

What is the pathogenesis of systemic sclerosis?

Answer 10

• complex, not really understood
• immune activation, vascular damage, excessive synthesis of extracellular matrix
• 95% have antibodies
• -Scl 70 topoisomerase: diffuse
• centromere antibodies: limited