Scleroderma and CREST syndrome
Terms in this set (17)
What is scleroderma?
-A rare, devastating connective tissue disorder
-There is chronic hardening and tightening of the skin
-Systemic sclerosis: involvement of internal organs--->diffuse or local cutaneous (depending on distribution of skin involvement)
What is the pathophysiology of scleroderma?
-Immune activation of autoantibodies
-Vascular damage (activation of endothelial cells, up regulation of adhesion molecules)
-Excessive production of extracellular matrix with increased collagen deposition (thickness!)
-Cytokine production (mediates proliferation of vascular and connective tissue) to produce more collagen
What are symptoms of scleroderma?
-Loss of strength
-Affects the fingers and hands first, face earliest involvement with hardening and thickening
-Edema and erythema may precede skin indurations
-Common skin features:
, pitting at the fingertips, telangiectasia,
calcinosis cutis (calcium deposits in skin)
, edema and pruritus in the early stages
Oral manifestations of systemic sclerosis
Skin findings of systemic scleroderma
-Beak like nose
-Salt and pepper hypo/hyperpigmentation
Sclerodactyly in systemic scleroderma
-The skin is very taut
-Easy to get digital ulcers
-Disability with work
Telangiectasia in systemic scleroderma
Calcinosis cutis in systemic scleroderma
-These are rock hard
What are clinical manifestations of local scleroderma?
-Sclerosis restricted most commonly to hands and distal forearm
-Prominent vascular manifestations (Raynaud's phenomenon)
What is CREST syndrome?
-Subgroup of scleroderma with limited disease but has all these things:
What is Raynaud's Phenomenon?
-Reversible vasospasm due to functional changes in arteries/arterioles of hands and/or feet
-Can result in ischemic ulceration or infarct if prolonged
In local cutaneous, raynaud's typically precedes scleroderma symptoms
In diffuse cutaneous, raynaud's typically coincides with scleroderma symptoms
What are clinical manifestations of diffuse scleroderma?
-Sclerotic skin on chest, abdomen, upper arms, and shoulders
-More likely to have internal organ involvement due to fibrosis or ischemic injury
What are some extracutaneous manifestations of scleroderma?
-->esophageal hypo motility, incompetent lower esophageal sphincter (it gets sclerotic as well and it doesn't move well), dysphagia, choking, pyrosis, hoarseness, cough with swallowing, bloating, altered bowel movements, fecal incontinence
-->interstitial lung disease, 5 fold increase of lung cancer (leading cause of mortality)
-->renal disease and renal crisis, there is a significant increase with BP
-Cardiac-->pericarditis, heart failure, MI
-Musculoskeletal-->swelling of hands, arthralgia, myalgia, fatigue
-GU-->ED, vaginal dryness
What are some ddx to scleroderma?
-Host vs graft reaction
-Environment exposures (farming chemicals)
BUT if Raynaud's phenomenon is present then we can exclude these DDX
How do you diagnose scleroderma?
Clinical: presence of skin thickening, hardening, puffy fingers, digital ulcers and presence of extracutaneous features
-CBC with diff
-CK will usually be elevated bc of the breakdown
-U/A will show albumin
ANA to help support but it is not confirmatory
-ACA antibodies in local cutaneous
-Anti-DNA topoisomerase in diffuse cutaneous (increases interstitial lung disease risk)
-Skin biopsy is not needed to confirm but best used if in doubt of diagnosis (not first line therapy bc they're really hard to heal. Maybe do if they had a lot of autoimmune disorders)
How do you treat scleroderma?
Refer to rheumatologist
-Pretreatment evaluation-->assess organ involvement and treatments are organ specific
Localized cutaneous=UV-A light therapy (softens lesions), highly potent topical steroids, Vit D, methotrexate
Diffuse cutaneous=treat pruritus with antihistamines, low-dose oral steroids, telangiectasia with green makeup/laser treatment, and calcinosis with a dentist drill (derm)
Raynauds=calcium channel blocker
GI=empirically give PPI to prevent strictures and erythromycin for esophageal hypo motility
Musculoskeletal=APAP, NSAIDs for symptomatic relief
What is the prognosis of scleroderma?
-Increased premature death with systemic scleroderma
-#1 is pulmonary disease
-The more cardiac, GI, and pulmonary HTN involvement they have, the more significant disease