Tuesday, September 16, 2014

Definition

Scleroderma is a chronic, degenerative, autoimmune disorder that leads to the over-production of collagen in the body's connective tissue. The word "scleroderma" means "hardening of the skin" and refers to one of the possible physical effects of the disease.

If systemic (throughout the body), scleroderma is known as progressive systemic sclerosis.

Description

Approximately 300,000 people in the U.S. have scleroderma. Women are affected three times as often as men. Although the disease can develop at any age, it most frequently appears in the third to fifth decades of life. It is most frequently a chronic and often progressive illness.

Collagen, a protein manufactured by the connective tissues of the body, is produced in excess in someone suffering with scleroderma. This over-production of collagen can be likened to the process of "scarring," which is the way the body heals a wound.

For persons with scleroderma, the production of collagen is abnormal, depositing it in various organs and/or tissues of the body, especially in layers of the skin.

It is important to stress that the symptoms of scleroderma vary greatly from person to person, as though each person with scleroderma has his/her own version of the disease. Although scleroderma can indeed be serious, most people are able to live a normal life span with varying degrees of discomfort and/or disability.

There are two forms of scleroderma: localized and generalized (also called systemic sclerosis).

Localized Scleroderma

  • affects mainly the skin in different areas of the body
  • may affect muscles and bone
  • does not affect internal organs
  • is not usually as severe as generalized scleroderma
  • does not usually develop into generalized scleroderma

Generalized Scleroderma

Generalized scleroderma affects the skin and/or internal body parts, such as blood vessels, the digestive system (esophagus, stomach, and bowel), the heart, lungs, kidneys, muscles, and joints.

Generalized scleroderma most often presents as either CREST syndrome or diffuse scleroderma.

CREST is an acronym derived from the syndrome's five most prominent symptoms:

  • C - calcinosis, painful calcium deposits in the skin
  • R - Raynaud's phenomenon, abnormal blood flow in response to cold or stress, often in the fingers
  • E - esophageal dysfunction, difficulty swallowing caused by internal scarring
  • S - sclerodactyly, tightening of the skin on the fingers and toes
  • T - telangiectasia, red spots on the hands, palms, forearms, face and lips

Diffuse scleroderma appears as thickening of the skin that often spreads from the fingers and hands to the face, trunk or major organs.

Other less common forms of scleroderma include chemically induced localized scleroderma, eosinophilic myalgia syndrome (a disorder caused by the ingestion of L-tryptophan), toxic oil syndrome (associated with contaminated oil), and graft-versus-host disease.

Effects Of Scleroderma On The Body

  • Scleroderma in the skin may cause the cessation of hair growth and sweating; and the tightening and thinning of skin over the knuckles or finger joints, resulting in ulcers (open sores) and curving of the digits.
  • Scleroderma in the kidney may cause severe hypertension (high blood pressure) and kidney failure.
  • Scleroderma in the gastrointestinal tract hampers the action of the smooth muscle that lines the esophagus, small intestine, and colon; resulting in swallowing difficulties, malabsorption of digested food into the circulation, severe constipation and/or possible intestinal obstruction.
  • Scleroderma in the lung makes the lungs less flexible and reduces their blood supply resulting in shortness of breath, susceptibility to bronchial problems, and pulmonary fibrosis (scarring and thickening of lung tissue).
  • Scleroderma in the heart and pericardium (fibrous sac that lines the heart) restricts the normal pulsation and pumping of the blood by encasing the heart in a shell of sclerosed tissue. This may lead to heart failure.
  • Scleroderma in the joints causes arthritic symptoms such as inflammation, pain, swelling, stiffness, redness, and, in some cases, joint deformity.

Causes

The cause of scleroderma is unknown. It is not contagious. It is not passed on from one generation to the next, except in rare circumstances.

Symptoms

The following are some of the symptoms of scleroderma:

  • Gradual hardening, thickening, and tightening of the skin, usually in extremities such as hands, face, and feet
  • Skin discoloration
  • Numbness of extremities
  • Shiny skin
  • Small white lumps under the surface of the skin that erupt into a chalky white fluid
  • Raynaud's phenomenon (pain, numbness, and/or color changes in the hands caused by spasm of the blood vessels upon exposure to cold or emotional stress)
  • Telangiectasia (red spots on the hands, palms, forearms, face, and lips)
  • Pain and/or stiffness of the joints
  • Swelling of the hands and feet
  • Itching of the skin
  • Stiffening and curling of the fingers
  • Ulcers (sores) on the outside of certain joints, often the knuckles and elbows
  • Digestive problems such as heartburn, difficulty in swallowing, diarrhea, and constipation
  • Fatigue and weakness
  • Shortness of breath
  • Arthritis
  • Weight loss
  • Hair loss
  • Internal organ problems

Diagnosis

The diagnosis of scleroderma is made by a medical history, physical examination and diagnostic tests.

The diagnostic tests may include skin biopsy (removal of a sample of skin for examination) and blood tests.

Other tests, such as pulmonary function studies for the lungs, chest X-rays, studies of gastrointestinal function, and electrocardiography (EKG of the heart) may be performed to determine the disease's severity and effect on the internal organs.

Treatment

Currently, there is no cure for scleroderma and treatment involves alleviating specific symptoms associated with scleroderma.

  • To treat skin thickening, medications may include penicillamine.
  • To treat kidney problems, medications to lower blood pressure such as vasodilators, angiotensin-converting enzyme (ACE) inhibitors, and calcium channel blockers may help.
  • To treat gastrointestinal discomfort and infection, medications such as antacids, H2 blockers (e.g., Tagamet), omeprazole, and antibiotics may help.
  • To treat esophageal disease, any medication recommended by a physician should be taken in liquid or crushed form. Patients with esophageal reflux should avoid late-night meals and elevate the head of their bed 4 to 6 inches.
  • To treat joint pain and swelling, medications such as aspirin or nonsteroidal anti-inflammatory drugs (NSAIDs) may help.
  • To treat joint and muscle stiffness, steroid medications, as well as heat therapy, physical therapy, and exercise may help.
  • To treat Raynaud's phenomenon, calcium channel blockers may help.

Protection

One way to reduce the discomfort that comes with scleroderma is to take an active role in protection.

  • Keep warm - exposure to cold can trigger Raynaud's phenomenon
  • Develop a physical therapy program with your physician to keep joints flexible
  • Wear protective joint equipment to avoid sprains and strains of joints
  • Protect feet and hands from injury and infection
  • Moisturize the skin to keep it flexible
  • Avoid using strong detergents, cleansers, and solvents
  • Get enough sleep
  • Reduce stress
  • Do not smoke

Questions

Do any tests need to be done for diagnosis?

What type of scleroderma is it?

What areas or organs have been affected?

How serious is the condition?

What treatment do you recommend?

How successful is the treatment?

Can the disease progression be stopped?

What is the prognosis of this disease?

Is there a support group for scleroderma?