Bài Giảng Xơ Cứng Bì Y Hà Nội

XƠ CỨNG BÌ
TS. BS Hoàng Thị Lâm
Phó Trưởng Bộ môn Dị ứng - MDLS, Đại học Y Hà nội
Khoa khám bệnh, bệnh viện Đại học Y Hà nội


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: Rare disease
4-12 new cases per million per year
prevalence of 19-75/100,000
2. Susceptibility: host factor

age - peak occurrence: age 35-65 years
rare in children
gender - female : male = 3-12 : 1
genetic background:


Classification
Scleroderma

Localized
Scleroderma

Morphea

Linear
Scleroderma

Systemic
Scleroderma

(Systemic Sclerosis)

Limited
Scleroderma

Diffuse
Scleroderma

Sine
Scleroderma
4


Limited and Diffuse SSc—
Skin Involvement

Limited

Diffuse
5


Limited Cutaneous
Previously called CREST
Involvement of distal extremities and face/neck
Raynaud’s phenomenon for years prior to skin thickening
Occasionally pulmonary hypertension with or without
interstitial lung disease
Majority anti-centromere antibody positive
(80–90%)
Nailfold capillaroscopy—dilated capillary loops
* CREST syndrome
- calcinosis, Raynaud's phenomenon, esophageal
dysmotility, sclerodactyly, telangiectasia

6


Diffuse Cutaneous
Widespread with early involvement of internal
organs
Raynaud’s phenomenon
Truncal and acral skin involvement
Absent for anti-centromere antibody
Nailfold capilaroscopy—capillary dilatation and
destruction

7

Diffuse Cutaneous
Associated with substantial morbidity and
mortality resulting from—
– Vascular dysfunction
– Organ fibrosis and inflammation
– Gastrointestinal dysmotility
– Myocardial involvement

8


Etiology
Environmental factors
1) silica dust
2) organic solvents
3) biogenic amines
4) urea formaldehyde
5) polyvinyl chloride
6) rapeseed oil
7) bleomycin
8) L-tryptophan
9) silicone implant (?)

Genetic predisposition
Defective immunoregulation
1) cell mediated immunity
CD4/CD8 , cytokines
2) humoral immunity

– hypergammaglobulinemia
– autoantibody production
– antinuclear antibody (+) >
95%


Pathogenesis
Susceptible host
Exogenous events
Immune system activation

Fibroblast
activation

Endothelial cell
activation/damage

End stage pathology
Obliterative vasculopathy
Fibrosis


Pathogenesis
1. Vasculopathy of small artery and capillary
- endothelial cell injury
- adhesion and activation of platelet
- PG F, thromboxane A2 release
- vasoconstriction & growth of endothelial cell and
fibroblast
- narrowing or obliteration, increased permeability

2. Fibrosis
- aberrant regulation of fibroblast cell growth
- increased production of extracellular matrix
(collagen, fibronectin, and glycosaminoglycan)
- thickening of the skin & fibrosis of internal organs


Vascular abnormalities
1) Raynaud's phenomenon
- cold hands and feet
with reversible skin color change (white to blue to red)
- induced by cold temperature or emotional stress
- initial complaint in 3/4 of patients
- 90% in patients with skin change
(prevalence in the general population: 4-15%)
2) digital ischemic injury


Raynaud’s phenomenon


Raynaud’s phenomenon


Raynaud’s phenomenon
• Arteriogram

- narrowing and
occlusion of digital
arteries

- proximal vessels,
arcades and metacarpal
vessels are widely patent


Causes of Raynaud’s
Occlusive arterial disease
Rheumatic
diseases:Scleroderma,CREST,MCTD,SLE
,RA, Myositis
Repetitive vascular injury
Hyperviscosity
:Polycythemia,Cryoglobulinemia
Thoracic outlet syndrome


Telangiectasia
• local disruption of

angiogenesis
• blanched by pressure

Dilated capillaries seen
over the face


Skin involvement
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
4) ulceration, loss of soft tissue of finger tip, pigmentation,
calcific deposit, capillary change


Edematous phase


Skin Induration


Acrosclerosis
Skin changes,and flexion contactures


Facial changes

Tight, thin lips with vertical perioral furrows


Salt and pepper pigmentation


Musculoskeletal system
• Polyarthritis and flexion contracture
• Muscle weakness and atrophy (primary

/secondary)


Terminal digit resorption