Two different forms of scleroderma have been
recognized. The localized form includes morphea and linear scleroderma
(“sclérodermie en coup de sabre” if located in the facial area) and
does not result in visceral organ involvement. The two types of systemic
scleroderma are limited scleroderma (80% of patients) and diffuse
scleroderma (20%). In limited scleroderma, the disease usually progresses
slowly (over several years) and, by definition, the skin involvement remains
distal to elbows and knees (however, involvement of the face and neck may
occur). In more than two thirds of patients, Raynaud phenomenon is the first
sign of the disease, with the characteristic triphasic color changes
starting with pallor (white; vasoconstriction), changing to cyanosis (blue; low blood
flow), and finally erythema (red; postischemic hyperperfusion). Over the following
years, the skin of the fingers becomes thicker as the disease progresses.
Calcinosis of the skin is often located periarticular in the extremities and
may initially be subclinical, but later becomes painful and exulcerates with
perifocal inflammation. The calcinosis is clearly visible as white, crumbly
deposits on the bottom of the ulcers. Acroosteolysis may occur. Paraspinal
calcifications are uncommon, but may cause pain and neurologic symptoms. The
majority of patients have some degree of intestinal dysmotility, which is
clinically most noticeable in the esophagus and characterized by a
decrease or loss of peristalsis in the distal part of the esophagus. In many
of these patients, erosive esophagitis and gastroesophageal reflux (often
associated with silent aspiration) and strictures are present. Complications
such as Barrett esophagus and adenocarcinoma of the esophagus have been
described. Other gastrointestinal problems include autonomic dysfunction,
ileal, jejunal, and colonic diverticula (also called sacculations, in the colon typically
located along the antimesenteric border), malabsorption, and bacterial
overgrowth. The patient may complain of dyspepsia and diarrhea alternating
with constipation. Hyperpigmentation and hypopigmentation of the skin and
pruritus are common. Telangiectases are typically located on the face,
chest, and hands, but also may be seen on the mucosa in the oral cavity and
throughout the entire gastrointestinal tract, where they may cause recurrent
bleeding. Approximately one fourth of patients develop pulmonary
hypertension with dyspnea and chronic cough. Cardiac involvement can present
with arrhythmias and conduction abnormalities, patchy areas of myocardial
fibrosis, pericardial effusions, and right heart failure secondary to
pulmonary hypertension. The vast majority of patients have generalized, but
unspecific arthralgias with morning stiffness. Clinically apparent synovitis
and erosive arthritis are uncommon. Tendon friction rubs can commonly be
felt and/or heard in the area of the big joints. Flexion contractures may
lead to reduced joint mobility. Muscle weakness (particularly proximal) may
be explained by myositis with muscle atrophy, resulting in increased serum
creatine phosphokinase levels. One third of patients suffer from sicca
syndrome with xerostomia and xerophthalmia. The 10-year survival rate of
scleroderma depends on the extent of the disease. In isolated sclerodactyly,
the rate is approximately 70%, in skin involvement also proximal to the
metacarpophalangeal joints but absent trunk involvement the rate is almost
60%, while in patients with diffuse skin involvement the rate is only
approximately 20%. Renal failure (secondary to vascular changes and/or
glomerulonephritis) accounts for approximately 50% of all
scleroderma-related deaths in patients with widespread skin involvement,
whereas patients with limited skin involvement commonly die of cardiac,
pulmonary, or gastrointestinal complications.