Scleroderma

Scleroderma is a rare disease of the connective tissue. It can cause the tissue in skin, joints and internal organs to thicken and stiffen. Localized Scleroderma – usually affects only the skin in isolated parts of the body. This form is less serious. Systemic Scleroderma – affects widespread areas of skin and/or internal organs, most often the lungs. This form is more serious and can be fatal.

Causes

Overproduction of collagen and other connective tissue proteins is the main feature of Scleroderma but it is not clear what causes this overproduction. Malfunction of the immune system may contribute to excess collagen production. There is also evidence that Scleroderma results from diffuse vascular abnormalities that may be related to this immune dysfunction.

Risk Factors

A risk factor is something that increases your chance of getting a disease or condition.
  • Sex: Female
  • Age: 30-50 years old
  • Certain occupational exposures (such as silica dust)
  • Genetic predisposition

Symptoms

Localized Scleroderma – Symptoms are usually restricted to the skin.They may completely reverse themselves in a few months or a few years. In some cases, they lead to permanent disfigurement. Symptoms include:
  • Large, hard patches on the skin, most often on the face or trunk
  • Lines of thickened skin that extend to underlying muscles and bones
  • Stiffness and pain in the joints leading to restricted movement
Systemic Scleroderma – Most cases begin with Raynaud's phenomenon (swelling, tingling, numbness and pain of fingers and toes brought on by cold or emotional distress). This is due to the thickening and spasm of blood vessels. Other symptoms, which may progress slowly (over decades) or quickly (over 1-2 years) include:
  • Diffuse thickening and hardening of the skin
  • Joint and muscular pain, stiffness and swelling
  • Problems with breathing, swallowing and digesting food due to thickening and hardening of lung, esophagus, bowel tissues
  • Inflammation and thickening of large and small blood vessels
Complications of Scleroderma can affect virtually every system of the body. Prominent complications include:
  • Bleeding
  • Pulmonary hypertension
  • Heart-rhythm problems
  • Heart failure
  • Kidney failure
  • High blood pressure
  • Gangrene

Diagnosis

The doctor will ask about your symptoms and medical history, and perform a physical exam. Diagnosis is based on changes in the skin. Other tests may include:
  • Blood tests
  • Imaging tests – plain x-rays, CT scan or MRI scan to look at internal organs
  • Biopsies of skin and other tissues – removing a sample of tissue for testing

Treatment

There is no treatment to cure Scleroderma. Treatments are aimed at relieving symptoms.
Joints and Muscles
  • Aspirin
  • Non-steroidal anti-inflammatory drugs
  • Corticosteroids
Esophagus and Digestive Tract
  • Medications to limit acid production in the stomach
  • Small, frequent meals
  • Sleeping with your head elevated to avoid acid reflux
Skin and Internal Organs
  • Corticosteroids
  • Immune suppressants
Kidney Problems and/or High Blood Pressure
  • Angiotensin-converting enzyme (ACE) inhibitors (anti-hypertensive drugs)
Raynauds Phenomenon
  • Nifedipine – to dilate blood vessels in the extremities
  • Proper shelter and clothing to avoid cold
  • Not smoking
Restricted Mobility
  • Physical therapy and exercise to maintain circulation, joint flexibility and muscle strength

Prevention

There are no guidelines for preventing scleroderma because the cause is unknown.