CRESTJ. Ryan Altman, MD

AM REPORT

9 December 2009

Picture 1

Picture 2

Picture 3

Picture 4

Picture 5

What’s my diagnosis?

Other findings: picture 6

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

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

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

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)

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

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=jUjPkZwMzCQT8M:&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.html Calcinosis cutis: www.dermis.net/bilder/CD051/100px/img0063.jpg Connective Tissue Disorders: Pocket Medicine 3rd ed., Marc Sabatine Uptodateonline.com: Classification of scleroderma disorders