1. CREST J. Ryan Altman, MD AM REPORT 9 December 2009

2. Picture 1

3. Picture 2

4. Picture 3

5. Picture 4

6. Picture 5

7. What’s my diagnosis?

8. Other findings: picture 6

9. Systemic Sclerosis and Scleroderma Disorder Definitions Scleroderma: presence of tight, thickened skin Anatomic distribution of sclerodermatous skin defines subtypes and disease associations Localized scleroderma: morphea, linear, en coup de saber Systemic sclerosis: multiorgan involvement  SSc with diffuse cutaneous involvement  SSc with limited cutaneous involvement (CREST)  SSc sine scleroderma (visceral disease without skin involvement) Peak onset: age 30-50, Female>Male

10. Systemic Sclerosis and Scleroderma Disorder Classification criteria (1 maj. or 2 min.) Major: skin findings extend prox to MCT or MTP joints Minor: sclerodactyly (limited to fingers), digital pitting scars (from loss of substance on finger pad), bibasilar pulmonary fibrosis (mechanism: stimulatory autoantibodies against PDGF receptor activating collagen gene expression) Proposed additions: presence of Reynaud's phenomenon, dropout or dilatation on nailfold capillaroscopy, and serologies

11. Systemic Sclerosis and Scleroderma Disorder Diagnostic studies + anti-Scl-70 (anti-topoisomerase 1): 40% diffuse, 15% limited + anti-centromere pattern (kinetochore): 60-80% limited, <5% diffuse + ANA (>90%) + RF (30%) HLA Association: DR1 (DQ5), DQB1/DR4 (D13 subtypes) If renal involvement: incr BUN and Cr, proteinuria If pulm involvement: interstitial pattern on CXR/chest CT, restriction and/or decr DLCO on PFTs; Pulm HTN revealed by ECHO Skin bx not routine, but helpful to assess other possible causes for skin thickening

12. Systemic Sclerosis and Scleroderma Disorder Limited involvement findings Skin: thickening on distal extremities and face only Nails: capillary dropout +/- dilitation Pulm: Pulm HTN>Fibrosis Renal: none (diffuse: renovascular HTN) Cardiac: none (diffuse: restrictive cardiomyopathy) Other: CREST (Calcinosis cutis, Raynaud’s, Esophageal dysmotility, Sclerodactyly, Telangiectasias) Antibodies: Anticentromere (diffuse: Anti-Scl 70) Prognosis: survival >70% at 10yr (diffuse: 40-60% at 10yr)

13. Systemic Sclerosis and Scleroderma Disorder Treatment Pulmonary Fibrosis: cyclophosphamide Pulm HTN: vasodilators Renal Monitor BP, ACE-I (not ARB) for HTN crisis GI PPI/H2 for GERD, Abx for malabsorption, hypomotility metoclopramide or erythromycin Cardiac NSAIDS or steroids for pericarditis Arthritis APAP, NSAIDS, PT Myositis MTX, AZA, steroids Skin PUVA for morphea, emollients or oral steroids (caution can precipitate HTN renal crisis) for pruritis, immunosuppressants only minimal to modest benefit for fibrosis

14. Bibliography Dry gangrene: http://images.google.com/imgres?imgurl=http://www.wsiat.on.ca/images/mlo/diabetic_fig5.jpg&imgrefurl=http://www.wsiat.on.ca/english/ wsiatDocs/mlo/diabetic_screen.htm&usg=__WP71rmUnUCfoMaE095mQ2utCjkA=&h=385&w=288&sz=63&hl=en&start=7&tbnid=jUjPkZ wMzCQT8M:&tbnh=123&tbnw=92&prev=/images%3Fq%3Ddry%2Bgangrene%26gbv%3D2%26hl%3Den%26safe%3Doff Raynaud Phenomenon: www.csmc.edu/images/354016_Raynaudsphenomenon.jpg Sclerodactyly: bestpractice.bmj.com/.../295-10-tn_default.jpg Scleroderma: www.scleroderma.org/.../diffuse-hands_jpg.jpg Capillary telangiectasias: http://www.aafp.org/afp/2004/0315/p1417.htmlhttp://www.aafp.org/afp/2004/0315/p1417.html Calcinosis cutis: www.dermis.net/bilder/CD051/100px/img0063.jpg Connective Tissue Disorders: Pocket Medicine 3 rd ed., Marc Sabatine Uptodateonline.com: Classification of scleroderma disorders