Systemic sclerosis (SSc) is a chronic multisystem disease characterized clinically by
thickening of the skin caused by accumulation of connective tissue and by
involvement of visceral organs (GI, lungs, kidneys).
Clinical Presentation. All patients with SSc have skin thickening and Raynaud
phenomenon (due to vascular damage and diminished blood flow to the extremities).
• GI: esophageal dysmotility; hypomotility of small intestine with bacterial overgrowth
and malabsorption; dilatation of large intestine with formation of large diverticula
• Pulmonary: pulmonary fibrosis with restrictive lung disease and cor pulmonale
(pulmonary involvement is now the leading cause of death in SSc)
• Renal: scleroderma renal crisis in which malignant hypertension develops and causes
acute renal failure (had been leading cause of death but is now easily treated with ACE
inhibitors)
Scleroderma renal crisis has been used to characterize the renal involvement in
scleroderma, where malignant hypertension occurs over days to weeks and is
associated with acute renal failure (rapid rise in creatinine and proteinuria). ACE
inhibitors (enalapril, lisinopril) have been effective at reducing the devastating
consequences of renal crisis in patients where treatment is initiated before the onset
of renal failure.
CREST syndrome, a variant of scleroderma, is now called limited scleroderma or
limited cutaneous systemic sclerosis. The acronym CREST represents the hallmarks
of the disease:
• Calcinosis (a condition in which calcium deposits occur in soft tissues, usually
fingers (especially PIP joints), knees, and elbows; deposits occur near skin surface and
may
ulcerate and become infected)
• Raynaud
• Esophageal dysfunction
• Sclerodactyly (skin thickening, primarily affecting fingers and toes)
• Telangiectasias
Limited scleroderma generally has the following features:
• Skin involvement that does not extend above the elbow or above the knee (rarely, the
face may be affected)
• Slow progression, as compared with the diffuse cutaneous form of scleroderma,
which
is more likely to affect internal organs
• Pulmonary arterial hypertension (25–50% of patients)
• Interstitial lung disease (10% of patients)
• Positive ANA test, showing a pattern of anticentromere antibodies (up to 90% of
patients)
• Negative antibodies to Scl-70, as compared with positive antibodies to Scl-70 with
diffuse scleroderma
Raynaud phenomenon is defined as episodes of pallor or cyanosis in response to cold
or emotional stimuli. The pallor is caused by vasoconstriction of blood vessels
(arteries and arterioles) that results in reduced blood flow, while cyanosis is created by
deoxygenation of slowflowing blood. After rewarming the hands, the blood flow will
rebound (hyperemia) and the skin will appear reddened or blushed.
• Patients commonly complain of cold sensitivity and involvement of other areas of the
skin, including the ears, nose, and lower extremities.
• Episodes come as sudden attacks and are most often triggered by rapid changes in
ambient temperature; attacks may begin in 1 or 2 fingers but typically involve all
fingers and/or toes symmetrically and bilaterally.n In primary Raynaud phenomenon
(Raynaud disease), the patient has no associated underlying disease. In secondary
Raynaud phenomenon, the patient has a defined secondary or associated disease (e.g.,
scleroderma). To differentiate them, do a nailfold capillaroscopy test (place a drop of
oil on patient’s nailfold at the base of the fingernail) and examine that area under a
microscope for any capillary changes. Enlarged, dilated, or absent nailfold capillaries
are noted among patients with scleroderma and other autoimmune diseases.
About 5% of the general population has symptoms and signs consistent with Raynaud
phenomenon. It is more common among young women, about 30% have a first-degree
relative with Raynaud, and most have primary Raynaud phenomenon without any
defined cause or associated systemic disease.
Treatment. There is no cure for SSc. For the skin manifestations, use D-penicillamine.
For severe Raynaud phenomenon, use calcium-channel blockers, specifically
nifedipine. For hypertension, use ACE inhibitors.