Systemic

sclerosis
Also called scleroderma Mul2system disease of unknown e2ology Pathogenesis include immune system ac2va2on , endothelial ac2va2on , and broblast ac2va2on this results in small blood vessels damage and 2ssue brosis.

Epidemiology
Rare disease incidence in the US 19/million/ year and prevalence of 19-75/100,000 Rare in children Peak between age 35-65 More women aected Family h/o other auto immune diseases Ethnic background inuence survival and disease manifesta2on.

Clinical features
Raynaud s Typical skin changes Esophageal and small bowel dysfunc2on Inters22al lung disease Pulmonary hypertension Renal crises

What is Raynaud s Phenomenon

Reversible skin color changes:White to blue to red Due to vasospasm Induced by cold of emo2on

Raynaud s :Pallor phase

Raynaud s:cyano2c phase

Causes of Raynaud s
Occlusive arterial disease Rheuma2c diseases:Scleroderma,CREST,MCTD,SLE,RA, Myosi2s Repe22ve vascular injury Hyperviscosity :Polycythemia,Cryoglobulinemi a Thoracic outlet syndrome

Typical skin changes

Tight thick skin,peaked nose Pursed mouth

Salt and pepper pigmenta2on

Microstomia

Esophageal dysmo2lity:heart burn,and reux symptoms

Dilated esophagus on Esophagogram

Shortness of breath in Scleroderma

DD, 1-Inters22al lung disease:CXR,PFT,HRCT chest 2-Pulmonary hypertension:Echocardiogram,right sided cardiac catheteriza2on 3-Cardiomyopathy,Heart failure, 4-Pericardial eusion 5-Renal crises

Inters22al Lung disease

Major cause of morbidly

Renal crises and hypertension in scleroderma

Major complica2on Early in disease rst few years Acute onset hypertension High Renin Renal impairment Microangiopathic hemoly2c anemia,Thrombocytopenia Renal failure can be reversible if BP treated Drug of choice Angiotensin conver2ng enzyme inhibitor

CREST
Calcinosis Raynaud s Esophageal dysmo2lity Sclerodactyly Telangiectasias

Calcinosis

Sclerodactyly
Skin changes,and exion contactures

Telangiectasias
Dilated capillaries seen over the face

Diagnosis
Clinical features ANA posi2ve 90% An2 topoisomerase 1 an2body posi2ve(scl-70) 30% in diuse An2centromere an2body posi2ve in CREST and limited scleroderma

Treatment
Skin :no eec2ve treatment,60% improve with 2me Treat hypertension early and aggressive to prevent renal damage and other hypertension complica2ons Calcium channel blockers may help Raynaud s Treat ILD and pulmonary hypertension Avoid steroids(may provoke renal complica2ons)