Scleroderma

1. Systemic sclerosis (SSc)
Systemic sclerosis (SSc)
Limited cutaneous SSc
Diffuse cutaneous SSc
Overlap syndromes
Mixed connective tissue disease

2. Pathophysiology
• autoimmune dysfunction
• T cells accumulate in the skin
• secrete cytokines and other proteins that stimulate collagen
deposition.
• Stimulation of the fibroblast
• transforming growth factor (TGFβ)
• connective tissue growth factor (CTGF)
• Damage to endothelium is an early abnormality in the development
of scleroderma

3. • due to collagen accumulation by fibroblasts, although direct
alterations by cytokines, platelet adhesion and a type II
hypersensitivity reaction
• Increased endothelin and decreased vasodilation

5. Epidemiology
• SSc is an acquired sporadic disease
• Like other connective tissue diseases, SSc shows a female
predominance
• most pronounced in the childbearing years and declines after
menopause.
• SSc can present at any age
• the most common age of onset for both limited and diffuse
cutaneous forms is in the range of 30–50 years.

21. S

39. scleroderma renal crisis.
• The most important clinical complication of scleroderma involving the kidney
• Symptoms
• malignant hypertension
• azotemia
• microangiopathic hemolytic anemia
• high blood pressure
• hematuria
• proteinuria
• Treatment for scleroderma renal crisis include ACE inhibitors.

41. Diagnosis
• clinical suspicion
• presence of autoantibodies (specifically anti-centromere and anti-
scl70/anti-topoisomerase antibodies)
• Of the antibodies, 90% have a detectable ANA.
• Anti-centromere antibody is more common in the limited form (80-
90%) than in the diffuse form (10%)
• anti-scl70 is more common in the diffuse form (30-40%)

46. MCTD
MIXED CONNECTIVE TISSUE DISORDERS
• an autoimmune disease
• Signs and symptoms
• combines features of scleroderma, myositis, systemic lupus
erythematosus, and rheumatoid arthritis
• thus considered an overlap syndrome.

47. • MCTD commonly causes:
• joint pain/swelling,
• malaise,
• Raynaud phenomenon,
• muscle inflammation, and
• sclerodactyly (thickening of the skin of the pads of the fingers)

48. Diagnosis
• positive, speckled anti-nuclear antibody and an anti-U1-RNP antibody.
• Cause
• It has been associated with HLA-DR4
• Prognosis
• In spite of prednisone treatment, this disease is progressive
• Most deaths from MCTD are due to heart failure caused by
Pulmonary Arterial Hypertension (PAH).