Scleroderma
Systemic Sclerois (SSc)
Chronic multisystem disease with vascular problems and progressive fibrosis of skin and organs
Broad spectrum of disease
Thickened, hardened skin
Types
Limited cutaneous SSc - Puffy fingers. Skin sclerosis distal to elbows and knee. Often Raynaud’s. Many have CREST (Calcinosis Cutis, Raynaud’s, Oesophageal Dysmotility, Sclerodactyly, Telangectasis)
Diffuse cutaneous Ssc - Puffy hands. Thick skin. More likely to progress to lung, renal and heart problems.
SSc sine scleroderma - No skin involvement but clinnical features or positive blood tests.
Ss with Overlap Syndrome - Any of above + SLE, RA, PM, Sjogren’s
Prevalence
About 1: 3000. Mostly female.
Features
Skin
Skin thickening and hardening
Fingers, hands and face earliest
Pruritus in the early stages
Edema in the early stages
Skin hyperpigmentation or depigmentation ("salt and pepper")
Loss of appendicular hair
Dry skin
Capillary changes at the nail beds
Lipoatrophy
Ulcerations over the distal interphalangeal joints (DIP) and proximal interphalangeal joints (PIP) related to repetitive microtrauma over tightened skin
Digital tip ulcers and/or pitting at the fingertips
Telangiectasia
Degos-like lesions
Calcinosis cutis
Vessels
Raynaud’s Phenomenom
MSK
Include arthralgia, arthritis, tendinitis, tendon friction rubs, and small and large joint contractures
GIT
90% have GIT features
Dysphagia and choking, heartburn, hoarseness, cough after swallowing, early satiety, bloating, alternating constipation and diarrhea, episodic pseudo-obstruction and bacterial small bowel overgrowth with malabsorption, and fecal incontinence
Lung
80% have lung features
Commonest are ILD and Pulmonary Vasculsr Disease (e.g. PAH)
Heart
Any part of heart can be affected
Kidney
60% have renal damage
Tests
FBC, UEC, CK, Urinalysis
ANA (positive in 95%)
ENA (Anti-Scl-70, ACA, AntiRNA polymerase III AB, Antiboides to Th/To)
AntiScl-70 has sensitivity of 20 to 50% but specificity of 99.5%
RF, anti-CCP, Anti-DsDNA
Consider CXR + PFTs, Echo
