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Scleroderma

Overview

Scleroderma is a connective tissue disorder that is characterized by hardening and induration of skin. Scleroderma itself is a manifestation of systemic sclerosis, an autoimmune disease involving skin, subcutaneous tissue, muscles, and bones. There is excessive deposition of connective tissue macromolecules in the skin that causes thickening. It is not an inherited disease, but genetic factors play an essential role in disease onset and progression.

Causes

Scleroderma is a connective tissue disorder that is characterized by hardening and induration of skin. Scleroderma itself is a manifestation of systemic sclerosis, an autoimmune disease involving skin, subcutaneous tissue, muscles, and bones. There is excessive deposition of connective tissue macromolecules in the skin that causes thickening. It is not an inherited disease, but genetic factors play an essential role in disease onset and progression.

Types

Systemic sclerosis is divided into the following types depending upon the extent of the disease:

  • Limited cutaneous systemic sclerosis in which only a small part of the skin is involved. It includes some parts of the limb extremities, face, and neck.
  • Diffused cutaneous systemic sclerosis involves a large area of skin with internal organs as well. Skin areas include all parts of the limbs and face. The most frequently involved organ systems are the gastrointestinal, cardiac, renal, muscular, and respiratory systems.
  • Fulminant systemic sclerosis is the most severe form

Risk Factors And Epidemiology

Systemic sclerosis is often misdiagnosed, so the exact number of cases is not well known. It is more common in black people. It is 4 to 9 times more likely to occur in females than in males for unknown reasons. The most common occurrence is in the age group 30 to 50 years.

Signs And Symptoms

Following are the signs and symptoms of scleroderma:

  • Skin thickening, tightening, and induration accompanied with facial puffiness and swelling of fingers
  • Skin color changes resulting in areas with dark and light pigmentation
  • Skin itching
  • Raynaud phenomenon- that is bluish discoloration of fingers with painful skin tightening because of exposure to cold
  • Gastric symptoms include GERD, constipation, feeling of fullness, bloating, fecal incontinence, malnutrition, etc.
  • Cardiac symptoms include chest pain, dyspnea, palpitations, congestive heart failure, and an increased risk of myocardial infarction.
  • Respiratory symptoms such as chest pain, dyspnea, dry cough, etc., are due to pulmonary hypertension.
  • Musculoskeletal involvement causes generalized muscle and joint pain, muscle weakness, loss of range of movements at joints, etc.
  • Renal symptoms include hypertension, renal crisis, and renal failure.
  • Erectile dysfunction, vaginal narrowing, and vaginal dryness can also be seen.
  • Headache and stroke due to hypertensive renal crisis.
  • Depression and anxiety
  • Fatigue
  • Weight loss

Complications

Complications of scleroderma include:

  • Digital infarctions
  • Renal failure
  • Pulmonary hypertension
  • Muscle inflammation and weakness
  • Wound infections

Diagnosis

Scleroderma is usually diagnosed based on clinical symptoms. Some laboratory investigations that aid in the diagnosis are:

  • Complete blood count with ESR- that shows thrombocytopenia, features of anemia, and ESR may be normal or raised
  • Renal function tests- Serum creatinine is raised
  • Muscle enzymes such as creatine kinase and aldolase are elevated
  • Antinuclear antibodies- helpful for the diagnosis of scleroderma as they are raised in the  majority of cases
  • Anti centromere antibodies
  • Pulmonary function tests and HRCT for pulmonary involvement
  • Echocardiography to see cardiac involvement
  • Radiography of hands and digits can reveal features of the disease such as calcium deposition etc.

Differential Diagnosis

Following clinical conditions should be considered in differential diagnoses of scleroderma:

  • Nephrogenic systemic fibrosis
  • Allergic reactions
  • Eosinophilic fasciitis
  • Host vs. graft disease
  • Porphyria cutanea tarda
  • Radiation exposure
  • Morphea
  • Scleromyxedema
  • Reflex sympathetic dystrophy

Treatment And Medication

The mainstay of treatment is improving the quality of life by managing symptoms and complications.

  • Disease-modifying treatments are given to control the immune response in the vascular and skin tissue. These are immunosuppressive drugs such as corticosteroids, IV immunoglobulins, cyclophosphamide, methotrexate, etc.
  • Pain management through NSAIDs
  • Skin tightening is itching is managed by using moisturizers, emollients, and antihistamines.
  • Raynaud’s phenomenon is treated with calcium channel blockers such as sildenafil that open narrowed blood vessels and improve circulation.
  • Patients with severe Raynaud’s phenomenon may need to undergo surgical treatment.
  •  Gastric symptoms such as burning sensation and constipation etc. are treated accordingly
  • For renal hypertension, ACE inhibitors are the drug of choice.

Prognosis

The prognosis for limited and diffuse cutaneous types is good. The factors associated with poor prognosis of scleroderma include:

  • Young age
  • Increased ESR
  • The extent of skin involvement
  • Progression of symptoms
  • Anemia
  • Multiple organ involvement such as heart, liver, kidneys, and lungs, etc.

Prevention

  • Patients are advised to avoid prolonged exposure to cold or extreme temperature changes as it can cause worsening of the Raynaud phenomenon. Wear extra layers during winters.
  • Diet modification is necessary as the gastric system is also involved. Acidic and spicy food should be avoided as they can cause worsening of reflux disease and other symptoms.
  • Avoid exposure to cigarette smoke, harmful chemicals, and solvents.
  • Avoid skin injuries, cuts, and wounds as the healing is delayed.
  • Skin changes affect the appearance and hence the confidence of a lot of patients. They should be counseled and encouraged to cope with the depression and stress associated with the disease.