Systemic
scleroderma
By: Disha
Rajput
Group : 21LL2A
PROFESSOR:
RENATA
DEMENTIVA
Definition
1. Systemic sclerosis (scleroderma)
a multisystem disorder characterized by
1) functional and structural abnormalities of blood
vessels
2) fibrosis of the skin and internal organs
3) immune system activation
• 4) autoimmunity
Epidemiology
1. Prevalence: 4-12 new cases per million per year
2. Susceptibility: host factor
1) age – peak occurrence: age 35-65 years
2) gender – female : male = 3-12: 1
• 3) genetic background
Classification
1. Systemic sclerosis
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Overlap syndromes
2.Localized scleroderma
- Morphoea
Linear scleroderma
• • En coup de sabre
Etiology
Environmental factors Genetic predisposition
1) silica dust Defective immunoregulation
2) organic solvents 1) cell mediated immunity CD4/CD8
3) biogenic amines
cytokines
4) urea formaldehyde
2) humoral immunity
5) polyvinyl chloride
hypergammaglobulinemia
6) rapeseed oil
- autoantibody production
7) bleomycin
• - antinuclear antibody (+) > 95%
• 8) L-tryptophan
Pathogenesis
Clinical features As Raynauds syndrome
Clinical features
2. Skin involvement (1)
1) stage
⁃ edematous phase
⁃ indurative phase
atrophic phase
2) firm, thickened bound to underlying soft tissue
3) decrease in range of motion, loss of facial expression
• inability to open mouth fully, contractures
Clinical features of edematous phase
Clinical feature of
Skin induration
Clinical feature of Acrosclerosis
Facial changes
Clinical features
2. Skin involvement
ulceration, loss of soft tissue of finger tip, pigmentation,
• calcific deposit, capillary change
•
• 3. Musculoskeletal system
• • Polyarthritis and flexion contracture
• Muscle weakness and atrophy (primary /secondary)
Crest syndrome- Calcinosis cutis
Calcinosis and acrolysis
Clinical features
4. intestinal involvement
1) esophagus: hypomotility and retrosternal pain,
reflux esophagitis, stricture
2) stomach: delayed emptying
3) small intestine: pseudo-obstruction, paralytic ileus,
malabsorption, weight loss, cachexia
4) large intestine: chronic constipation and fecal impaction
• diverticula
Clinical features
5. lungs
1) 27/3 of patients affected
⁃ leading cause of mortality and morbidity in later stage
of systemic sclerosis
2) pathology
⁃ interstitial fibrosis
⁃ intimal thickening of pulmonary arterioles
(pulmonary hypertension)
• 3) Complains dry cough, breathlessness
Lab findings
1. ANA, RF
2. anti-Scl-70 (DNA topoisomerase I) antibody
1) 20-40% in diffuse scleroderma
2) 10-15% in limited scleroderma
3. anticentromere antibody
1) 50-90% in limited scleroderma
• 2) 5% in diffuse scleroderma
Diagnosis
1. major criteria: proximal scleroderma
2. minor criteria:
1) sclerodactyly
2) digital pitting scar or
loss of substance from the finger pads
3) bibasilar pulmonary fibrosis
• * one major or 2 or more minor criteria for diagnosis
Treatments
A wide spectrum of clinical manifestations and severity
- spontaneous improvement occurs frequently
penicillamine
- methotrexate
immunosuppressive agent: cyclosporin, IFN-Y
- recombinant human relaxin
• Symptomatic (organ-specific) treatment
Treatments
Raynauď’s phenomenon and ischemia
1) avoid cold exposure
layers of warm, loose-fitting clothing
2) quit smoking
3) vasodilator therapy
⁃ calcium channel blocker (nifedipine), prazosin, ACE-i
4) finger/ toe necrosis
⁃ intravenous prostaglandin (PGE, PGl2)
• amputation
Treatments
Gastrointestinal
1) reflux esophagitis and dysphagia
- elevation of head of bed
small frequent meal
- avoid lying down within 3-4 hours of eating
abstaining from caffeine-containing beverages,
cigarette smoking
- H2 blocker, proton-pump inhibitor
2) gastroparesis: promotility agent (metoclopramide)
• 3) malabsorption syndrome: broad spectrum antibiotics
Treatments
Pulmonary
1) Interstitial fibrosis
⁃ corticosteroid
⁃ cyclophosphamide, azathioprine
2) pulmonary artery hypertension
⁃ calcium channel blocker
prostacyclin
• transplantation
Prognosis
1. quite variable and difficult to predict
2.cumulative survival
diffuse 5 yr – 70% and 10 yr 50%
limited 5 yr - 90% and 10 yr 70%
3. major cause of death
1) renal involvement
2) cardiac involvement
• 3) pulmonary involvement
