Scleroderma Clinical Presentation

Updated: Dec 08, 2017
  • Author: Sergio A Jimenez, MD, MACR, FACP, FRCP(UK Hon); 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).
    Tightening of the skin in the face, with a charact Tightening of the skin in the face, with a characteristic beaklike facies and paucity of wrinkles.
  • Tightening of the skin in the face is often noted very early in the course of the disease (see image below)
    Sclerodactyly with digital ulceration, loss of ski Sclerodactyly with digital ulceration, loss of skin creases, joint contractures, and sparse hair.
  • Prominent skin pigmentary changes both hyperpigmentation and hypopigmentation (see image below)
    Anterior chest demonstrating salt-and-pepper hypop Anterior chest demonstrating salt-and-pepper hypopigmentation and diffuse hyperpigmentation in a white woman.
  • 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

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
  • Constipation alternating with diarrhea from bacterial overgrowth (may lead to malabsorption)
  • Fecal incontinence
  • Malnutrition from inadequate caloric intake
  • Chronic iron deficiency anemia from occult blood loss

Respiratory manifestations

Respiratory compaints 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
  • Symptoms 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:

  • Renal crisis
  • Chronic renal insufficiency
  • History of high dose corticosteroid use.

Genitourinary manifestations

Patients with systemic sclerosis may present with the following:

  • Bladder fibrosis
  • Dyspareunia (if introitus is affected)
  • Vaginal narrowing, dryness and pain caused by vaginal fibrosis

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.

Tightening of the skin in the face, with a charact Tightening of the skin in the face, with a characteristic beaklike facies and paucity of wrinkles.
Sclerodactyly with digital ulceration, loss of ski Sclerodactyly with digital ulceration, loss of skin creases, joint contractures, and sparse hair.

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)
    Anterior chest demonstrating salt-and-pepper hypop Anterior chest demonstrating salt-and-pepper hypopigmentation and diffuse hyperpigmentation in a white woman.
  • 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 (see image below), 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
    A radiograph of the distal digits demonstrating ca A radiograph of the distal digits demonstrating calcinosis and distal phalanx reabsorption (acral osteolysis).

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 of pallor, cyanosis, and then erythema (white, blue, red) in the fingers, toes and other acral body parts, and is 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 to 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
    Fingernail capillary bed demonstrating capillary d Fingernail capillary bed demonstrating capillary dropout with large dilated vessels.

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
  • Blacks have a higher risk of developing pulmonary involvement and when it occurs it is of greater severity than in whites
    Lung biopsy demonstrating severe interstitial fibr Lung biopsy demonstrating severe interstitial fibrosis and medial fibrosis and smooth muscle hyperplasia of a pulmonary arteriole compatible with pulmonary hypertension.
    Lung biopsy demonstrating expansion of the interst Lung biopsy demonstrating expansion of the interstitium of the lung by fibrous tissue along with chronic inflammatory cells.

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).

Barium swallow demonstrating reflux into the dista Barium swallow demonstrating reflux into the distal esophagus, as well as an accordion appearance in the duodenum.

Other GI findings are as follows:

  • Abdominal distention
  • Malabsorption
  • Mucosal telangiectasia
  • Anal sphincter incompetence
  • Anemia caused by blood loss from either mucosal telangiectasias or gastric antral vascular ectasia (GAVE), also known as “watermelon stomach

Renal system

Renal crisis presents as the following:

  • Accelerated hypertension (absent in approximately 10% of cases)
  • Oliguria
  • Headache
  • Dyspnea
  • Edema
  • Rapidly rising serum creatinine levels

Cardiac system

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

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

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.

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
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