SYSTEMIC SCLEROSIS

د.عقبةSYSTEMIC SCLEROSIS

&
RELATED SCLERODERMA SYNDROMES
Classification of scleroderma syndromes :
1. Systemic sclerosis : Diffuse scleroderma
Limited cutaneous ( CREST syndrome)
2. Morphea (linear scleroderma): Local or widespread 3. Overlap syndrome
4. Undifferentiated connective tissue (C.T) dis.
5. Chemically induced S.S : Occupational, Drugs
6. Pseudo scleroderma syndrome

SYSTEMIC SCLEROSIS

Systemic sclerosis (S.S):
It is a heterogeneous group of disorders of connective tissue characterized by ; Fibrosis & degenerative changes in skin & many internal organs.
Epidemiology:
- Annual incidence 1 2 / 100 000
- F/M 4:1
- HLA-DR1 , DR2 , DR3 , DR5 , DRW52 class II alleles
- Environmental risk factors ; silica dust , vinyl chloride , epoxy resins & trichloroethylene.


PATHOGENESIS:
Immunologically mediated inflammation
+
Genetically predisposed individual
↓
Intimal thickening of small B.V + Excessive production
& cross linking of type I collagens
+
T-lymphocytes & auto antibodies like Antinuclear AB (ANA)
& complement activation.
↓
Endothelial injury causing:
Vasoconstrictors endothelin release
Secondary platelet activation
Release of other mediators
Clinical features:
*Age incidence 30-50ys.
Raynaud s phenomena is the common presenting complain. *
*Digital ischemia → ulceration → infarction → pulp atrophy & gangrene.
Skin manifestation:
Involve: Face
Trunk
Limbs
Initially: well demarcated non-pitting oedema & induration with ((sausage)) swelling & restriction of finger movement.
Later: shiny skin atrophy & ulcerated finger tips with or with out calcenosis.
Other features: Pigmentation & telangectasia of face, trunk & limb.
Mask like face with peaking nose & restricted mouth opening.
Tightening of the skin over bony prominence →flexion contracture.



Musculoskeletal manifestation:
Arthralgia
Arthritis; mild non erosive.
Leathery crepitus due to tendon sheath inflam Muscle weakness & wasting due to disuse & low grade myositis.
GIT manifestation:
Reflux oseophagitis & sliding hiatus hernia.
Dilatation segment of small & large intestine causing intermittent abdominal pain, constipation , distention & obstruction .
Malabsorption due to bacterial overgrowth causing diarrhea.

Cardiopulmonary manifestations:

Pulmonary fibrosis
Pulmonary hypertension
Pericarditis
Cardiomyopathy
Heart block
Aortic valve lesion

Renal manifestation:

It is the important cause of morbidity & mortality.
Hypertensive renal crisis characterized by rapidly developing malignant hypertension & renal failure specially in diffuse form.
It is more prevalent with Topoisomerase I AB.
Prophylactic use of ACE inhibiters in pat. With diffuse S.S
Cranial & peripheral N. involvement is rare


INVESTIGATION:
1. Auto antibodies detection:
*ANA +ve in 50% (nuclear & speckled stain pattern)
*Anti single stranded RNA while anti DNA not detected & complements are normal.
*Anti topoisomerase I (Anti scl-70) is a pulmonary fibrosis marker.
2. Nail fold capillary scopy show; dilated, tortuous , dropped out cap. .
3. Recumbent Barium-swallow show ;
Loss of oseophageal peristalsis.
Dilatation of small & large bowel.
4. Hematological findings :
*ESR elevation as an acute phase reactant.
*Anemia of a chronic dis.

MANAGEMENT:

I. General measures:
*Protect the limbs from cold.
*Urgent treatment of chest infection.
*Broad spectrum of antibiotics to treat steatorrhea.
*NSAID for articular symptoms.
II. Specific measures:
No form of specific drugs to treat progressive S.S.(PSS)
*Corticosteroids for symptomatic treatment in early stages of dis. ; Arthritis , myositis & oedema.
*D-pencillamine ; interfere with collagen cross-linking .
*Nifidepine & Prostacycline infusion in Raynaud s phenomena.
*Captopril ; ACE inhibiters in renal crisis & hypertension
*Immunosuppressive drugs & bone marrow ablation with stem cell transplantation in case of PSS .


PROGNOSIS:
*Worse in late onset dis. & widespread .
*The overall 5 ys. Survival is 70% .
LIMITTED CUTANEOUS SYSTEMIC SCLEROSIS
CREST SYNDROME:
- Calcenosis
- Raynaud s phenomena
- Esophageal involvement
- Sclerodactyly
- Telangectasia
*Involve the skin in the distal parts (elbow, knee, neck & face)
* Pulmonary H.T is a complication.
*Anticentromere antinuclear AB is specific.
LINEAR SCLERODERMA
MORPHEA:
*Limited to skin specially the distal parts.
*Well demarcated.
*Pale indurated skin lesion.
*Serology similar to PSS.
EOSINOPHILIC FASCIITIS:
Clinical features:
* Scleroderma like synd. ; pain, swelling, tenderness of hand , forearm & feet without induration of the skin & no Raynaud s ph. Or systemic involvement .
*C.T.S sometime is early feature specially after exercise.
Laboratory finding :
1. Eosinophilia .
2. Hyperglobulinemia .
Treatment :
*Corticosteroid good response.
*Avoid excessive consumption of L-tryptophan .
D.D of Scleroderma :
Pseudo scleroderma (induration & brawny oedema of the skin ) seen in :
1. Scleroedema .
2. Sclero myxoedema .
3. Amyloidosis.
4. Acromegaly.
Ideal Group
A.H.Yahia
سأل رجل الشافعي رحمه الله فقال: يا أبا عبد الله، أيُّما أفضل للرجل: أن يُمَكّن أو أن يُبتلى؟ فقال الشافعي: لا يمكَّن حتى يبتلى، فإن الله ابتلى نوحاً، وإبراهيم، وموسى، وعيسى، ومحمداً صلوات الله وسلامه عليهم، فلما صبروا مكنهم، فلا يظن أحد أنه يخلص من الألم البتة..


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