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      Drugs & Diseases > Rheumatology

      Scleroderma Clinical Presentation

      Updated: Mar 01, 2023
      • Author: Abhishek Nandan, MD; Chief Editor: Herbert S Diamond, MD  more...
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      Presentation

      History

      Signs and symptoms of systemic sclerosis may involve the following systems:

      Skin manifestations

      Skin manifestations of systemic sclerosis are as follows:

      • Progressive skin tightness and induration, often preceded by swelling and puffiness (edematous stage) that does not respond to diuretic therapy

      • Skin induration initially affects the fingers (sclerodactyly) and extends proximally (see image below).

        Scleroderma: Sclerodactyly with digital ulceration Scleroderma: Sclerodactyly with digital ulceration, loss of skin creases, joint contractures, and sparse hair.
        View Media Gallery

      • Tightening of the skin in the face is often noted very early in the course of the disease (see image below)

        Scleroderma: Tightening of the skin in the face, w Scleroderma: Tightening of the skin in the face, with a characteristic beaklike facies and paucity of wrinkles.
        View Media Gallery

      • Prominent skin pigmentary changes—both hyperpigmentation and hypopigmentation (see image below)

        Scleroderma: Anterior chest demonstrating salt-and Scleroderma: Anterior chest demonstrating salt-and-pepper hypopigmentation and diffuse hyperpigmentation in a white woman.
        View Media Gallery

      • Diffuse pruritus

      Vascular manifestations

      Raynaud phenomenon is part of the initial presentation in 70% of patients with systemic sclerosis; 95% eventually develop it during the course of their disease. Raynaud phenomenon may precede obvious systemic sclerosis features by months or even years.

      Raynaud phenomenon that is not associated with systemic sclerosis or other autoimmune diseases is known as primary Raynaud phenomenon. It occurs in 5-15% of the general population. The female-to-male ratio is 4:1, with onset occurring usually during adolescence.

      Other vascular manifestations of systemic sclerosis include the following:

      • Healed pitting ulcers in fingertips
      • Large fingertip ulcers may lead to finger amputation
      • Cutaneous and mucosal telangiectasias
      • Evidence of macrovascular involvement including non-atherosclerotic myocardial infarction
      • Gastric angioectasias

      Gastrointestinal manifestations

      GI findings in systemic sclerosis include the following:

      • Gastroesophageal reflux caused by lower esophageal sphincter (LES) incompetence and decreased or absent peristalsis in the lower two thirds of the esophagus (may lead to hoarseness, dysphagia and aspiration pneumonia)
      • Dyspepsia, bloating, and early satiety
      • Intestinal pseudo-obstruction (due to abnormal gut peristalsis)
      • Constipation alternating with diarrhea from bacterial overgrowth (may lead to malabsorption)
      • Fecal incontinence
      • Malnutrition from inadequate caloric intake
      • Occult gastrointestinal blood loss (usually due to gastric antral vascular angioectasias (GAVE), sometimes termed "watermelon stomach")

      Respiratory manifestations

      Respiratory complaints in systemic sclerosis include the following:

      Musculoskeletal manifestations

      Musculoskeletal complaints in systemic sclerosis include the following:

      • Arthralgia
      • Myalgia
      • Loss in joint range of motion and joint flexion contractures
      • Tendon friction rubs
      • Symptoms of carpal tunnel syndrome
      • Muscle weakness

      Cardiac manifestations

      Cardiac signs and symptoms in systemic sclerosis include the following:

      • Dyspnea due to congestive heart failure or myocardial fibrosis
      • Palpitations, irregular heart beats, and syncope due to arrhythmias or conduction abnormalities
      • Other manifestations of congestive heart failure or right-sided heart failure
      • Systemic sclerosis is an independent risk factor for acute myocardial infarction

      Renal manifestations

      Renal signs and symptoms in systemic sclerosis include the following:

      • Hypertension
      • Oliguric acute kidney injury (a result of "renal crisis")
      • Chronic kidney insufficiency

      Genitourinary manifestations

      Patients with systemic sclerosis may present with the following:

      Eyes, ears, nose, and throat manifestations

      Patients may present with the following:

      • Sicca syndrome
      • Poor dentition secondary to sicca syndrome
      • Loosening of dentition caused by alterations in the tooth suspensory ligament and thickening of the periodontal membrane
      • Hoarseness due to acid reflux with vocal cord inflammation or fibrosis
      • Increased risk for tongue cancer
      • Decreased oral aperture
      • Blindness caused by retinal artery occlusion

      Neurologic/psychiatric manifestations

      Patients may present with the following:

      • Facial pain and decreased sensation due to trigeminal neuralgia
      • Hand paresthesias and weakness due to carpal tunnel peripheral entrapment neuropathy
      • Headache and stroke during hypertensive renal crisis
      • Depression and anxiety

      Constitutional manifestations

      Constitutional complaints in systemic sclerosis include the following:

      • Fatigue
      • Weight loss
      • Loss of appetite
      Next:

      Physical Examination

      Skin

      The skin of the hands may be edematous or swollen early in systemic sclerosis and the patient may initially report these changes as puffiness. This edematous stage precedes the indurated sclerotic stage. Slow progression of the sclerotic phase is associated with a better prognosis, whereas a rapid progression of cutaneous sclerosis indicates a worse prognosis and more extensive and severe visceral organ involvement with an increased risk of renal crisis or interstitial lung disease and higher mortality.

      In the sclerotic phase, the skin appears tight and shiny (see image below), with a characteristic loss of hair, decreased sweating, and loss of the ability to make a skin fold. This process of skin thickening usually begins distally on the fingers (sclerodactyly; see image below) and progresses proximally in a continuous symmetrical fashion.

      Scleroderma: Tightening of the skin in the face, w Scleroderma: Tightening of the skin in the face, with a characteristic beaklike facies and paucity of wrinkles.
      View Media Gallery
      Scleroderma: Sclerodactyly with digital ulceration Scleroderma: Sclerodactyly with digital ulceration, loss of skin creases, joint contractures, and sparse hair.
      View Media Gallery

      Other skin findings are as follows:

      • Reduced oral aperture (microstomia) caused by perioral fibrosis (assessed by measurements of the incisor-to-incisor distance)

      • Skin pigmentary changes include a salt-and-pepper appearance, with areas of hyperpigmentation and hypopigmentation, or an overall appearance of darkened skin not related to sun exposure (see image below)

        Scleroderma: Anterior chest demonstrating salt-and Scleroderma: Anterior chest demonstrating salt-and-pepper hypopigmentation and diffuse hyperpigmentation in a white woman.
        View Media Gallery

      • Telangiectasias are dilated vessels located just beneath the dermis on any skin area, but they are most obvious in the face, hands, and anterior chest; occasionally, telangiectasias may occur in mucosal surfaces and cause either obvious or occult bleeding

      • Calcinosis may develop in the fingers and extremities, most commonly in the finger tips, the extensor surface of the forearms and in the prepatellar regions; however, any area of the body can be affected. Occasionally, large calcium deposits with the appearance of tumoral calcinosis may occur. [95]

      Eyes, ears, nose, and throat

      Salivary production may be decreased and spontaneous sublingual pooling of saliva may be absent.

      Xerostomia and xerophthalmia may be part of the examination findings. A confirmatory minor salivary gland biopsy may show fibrosis without the pronounced lymphocytic aggregates that would be expected with primary Sjögren syndrome. Furthermore, patients with systemic sclerosis typically do not harbor anti-Ro and anti-La antibodies.

      Funduscopic examination during the hypertensive episodes of scleroderma renal crisis may reveal exudates and vascular alterations. Retinal artery occlusion causing acute loss of vision has been described in rare instances.

      Vascular changes

      Raynaud phenomenon results in characteristic color changes—pallor, cyanosis, and then erythema (white, blue, red)—in the fingers, toes and other acral body parts, usually accompanied by numbness, tingling, or pain. These events are triggered by cold exposure, smoking, or emotional stress. Subintimal hyperplasia, typically present in systemic sclerosis vessels, can cause a severe reduction of their luminal diameter, limiting blood flow. The baseline reduction in vessel lumen coupled to an exaggerated response to vasoconstricting stimuli accounts for the severity of Raynaud phenomenon in systemic sclerosis.

      Other manifestations of vascular involvement are as follows:

      • Infarction and dry gangrene of the fingers and toes may be caused by severe vasospasm superimposed on structural fibrotic and fibroproliferative vascular narrowing.

      • Some studies suggest that patients with systemic sclerosis have an increased risk of coronary atherosclerosis, peripheral vascular disease, and cerebrovascular calcification compared with healthy individuals, and may develop non-atherosclerotic myocardial infarction.

      • Nail-fold capillary microscopy demonstrates fewer capillaries than normal (ie, capillary loop drop; see image below) and numerous dilated and tortuous capillary loops.

        Scleroderma: Fingernail capillary bed demonstratin Scleroderma: Fingernail capillary bed demonstrating capillary dropout with large dilated vessels.
        View Media Gallery

      Musculoskeletal system

      Patients may present with generalized arthralgia and morning stiffness that may mimic other systemic autoimmune diseases. However, clinically apparent synovitis is uncommon.

      Hand and joint function usually decline over time because of skin tightening rather than arthropathy. Flexion contractures of affected joints is common.

      Tendon friction rubs are found almost exclusively in diffuse systemic sclerosis and may be detected as the tendon is moved actively or passively. The following are common sites where palpable tendon friction rubs may be found:

      • Shoulders - Scapula
      • Elbows - Olecranon
      • Knees - Patella
      • Wrists - Flexor or extensor
      • Fingers - Flexor or extensor (rare)
      • Ankles - Anterior tibia, posterior tibia, peroneal, Achilles tendon

      Myositis may cause weakness and muscle wasting. Acroosteolysis (ie, resorption or lysis of the distal end of the phalanx) may occur.

      Respiratory system

      Respiratory findings are as follows:

      • Dry rales may be the only physical examination finding that suggests pulmonary involvement in systemic sclerosis.

      • Patients may present with findings of aspiration pneumonia caused by aspiration of gastric contents due to lower esophageal sphincter incompetence.

      • An accentuated pulmonic second heart sound (P2) or a right ventricular heave may indicate the presence of pulmonary artery hypertension.

      • The murmur of tricuspic regurgitation (a high-pitched holosystolic murmur heard best at the left lower sternal border with radiation to the right sternal border) may be heard and is usually a result of the late stages of pulmonary artery hypertension.

      • Blacks have a higher risk of developing pulmonary involvement and when it occurs it is of greater severity than in Whites.

      Gastrointestinal system

      Atrophy of smooth muscle and submucosal fibrotic changes leading to decreased peristalsis throughout the gastrointestinal (GI) tract cause gastroesophageal reflux disease (GERD), gastroparesis, severe constipation, and pseudo-obstruction (see image below).

      Scleroderma: Barium swallow demonstrating reflux i Scleroderma: Barium swallow demonstrating reflux into the distal esophagus, as well as an accordion appearance in the duodenum.
      View Media Gallery

      Other GI findings are as follows:

      • Abdominal distention
      • Mucosal telangiectasia
      • Anal sphincter incompetence

      Renal system

      Renal crisis presents as the following:

      • Accelerated hypertension (absent in approximately 10% of cases)
      • Oliguria
      • Edema

      Cardiac system

      Cardiac arrhythmias and conduction abnormalities, including complete atrioventricular block, may be revealed during physical exam but must be confirmed by routine electrocardiography or, more accurately, with 24-hour Holter monitor or echocardiography.

      Cor pulmonale manifests on physical exam with progressive lower extremity edema, jugular vascular distension, and the murmur of tricuspid regurgitation.

      Genitourinary system

      Findings may include the following:

      • Women may present with vaginal dryness and vaginal mucosal inflammation; vaginal narrowing from vaginal fibrosis has been described
      • Erectile dysfunction is common in men, and may be the presenting symptom in some cases
      • Urinary bladder fibrotic infiltration may cause micro-hematuria
      Previous
      Next:

      Complications

      Cardiac system

      Pericardial effusion may develop in up to one third of patients with systemic sclerosis but is usually asymptomatic. Clinically significant pericarditis is rare.

      Other cardiac findings in systemic sclerosis are as follows:

      • Cor pulmonale may develop secondary to pulmonary fibrosis and/or pulmonary artery hypertension

      • Infiltrative cardiomyopathy with replacement of cardiac muscle by fibrous tissue can lead to arrhythmias, heart failure, or both

      • Contraction band necrosis results from global ischemia and reperfusion; patients may have recurrent episodes of vasospasm that are caused by the same mechanism involved in Raynaud phenomenon; this process can lead to cardiomyopathy and heart failure

      • Non-atherosclerotic myocardial infarction may result from inflammation and fibrotic narrowing of coronary vessels

      Gastrointestinal system

      Gastric antral vascular ectasias (GAVE, sometimes termed "watermelon stomach") may lead to rapid or chronic, progressive iron deficiency anemia due to blood loss.

      Complications of disrupted lower esophogeal sphincter tone may lead to aspiration events.

      Renal system

      Scleroderma renal crisis occurs most often in patients with early, rapidly progressing, diffuse skin involvement. This manifestation occurs in approximately 10% of cases.  However, in 20% of cases these patients have no skin disease, and renal crisis is their first manifestation of scleroderma. [45]

      Neurologic system

      Neurologic involvement is rare. Trigeminal neuralgia (uncommon) and carpal tunnel symptoms may result from peripheral entrapment neuropathies. Although rare, sensory neuropathies unrelated to entrapment may be present.

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