What Is Scleroderma? What Causes Scleroderma?

Scleroderma refers to a group of rare chronic autoimmune diseases in which the skin and connective tissues tighten and harden; it is a progressive disease. The skin and connective tissues are fibers that make up the framework that supports the body.

Although scleroderma may run in families, it often occurs in patients without any family history of the disease. Genes linked to scleroderma have not been identified. You cannot catch scleroderma from somebody who has it - it is not contagious. According to experts, approximately 1 in every 4,000 people has some form of scleroderma. It is rare in children, and is more common in females than males. It generally develops when the patient is aged between 30 and 60 years.

There are two major forms of scleroderma:

• Limited cutaneous scleroderma (morphea) - the patient's hands, arms and face are usually affected. Pulmonary hypertension is also common.
• Diffuse cutaneous scleroderma (systemic sclerosis) - a rapidly progressing disease that affects a much larger area of the skin and at least one internal organ, often the kidneys, esophagus, heart and lungs. Diffuse cutaneous scleroderma can be fatal.

Although no specific treatment for scleroderma exists, there is treatment for organ system complications.

Prognosis for limited cutaneous scleroderma is usually good. It is worse for diffuse cutaneous scleroderma, especially for elderly male patients. Pulmonary, heart and/or kidney complications are the most common causes of death.

According to Medilexicon's medical dictionary:

Scleroderma means "Thickening and induration of the skin caused by new collagen formation, with atrophy of pilosebaceous follicles; either a manifestation of progressive systemic sclerosis or localized (morphea)."

What are the signs and symptoms of scleroderma?

A symptom is something the patient feels and reports, while a sign is something other people, such as the doctor detect. For example, pain may be a symptom while a rash may be a sign.

The signs and symptoms of scleroderma vary according to which organ systems are affected. Diagnosis may initially be hard to make because early symptoms are commonly found in the general population - symptoms which are not necessarily linked to the disease. The most common signs and symptoms include:

• Raynaud's phenomenon - an over-reaction to cold temperatures or emotional distress. The small blood vessels in the hands and feet narrow, resulting in numbness, pain and color changes in the toes and fingers.
  
• GERD (gastroesophageal reflux disease) - the patient may experience acid reflux. If the intestinal muscles are not moving food through the intestines properly there may be problems absorbing nutrients.
  
  
• Skin - the individual may have swollen hands and fingers, patches of hardened skin (especially fingers), tight skin around the face, mouth or hands. The skin may seem to shine because of the tightness. Affected areas may have restricted movement.

Localized scleroderma signs and symptoms:

• Morphea - thickened, oval-shaped patches of skin; the shapes have a purple border and are white in the middle.
  
• Linear scleroderma - bands/streaks of hardened skin on the limbs or forehead. One or more limbs may be affected.

Systemic scleroderma (systemic sclerosis) - blood vessels and internal organs are also affected (as well as the skin). The patient may experience fatigue (tiredness), weight loss and muscle pains.

What are the risk factors for scleroderma?

A risk factor is something which increases the likelihood of developing a condition or disease. For example, obesity significantly raises the risk of developing diabetes type 2. Therefore, obesity is a risk factor for diabetes type 2.

• Choctaw Native Americans, from Oklahoma are 20 times more likely to develop scleroderma than other people. Choctaws living in Mississippi do not have this higher risk.
  
• People of African descent - according to the Mayo Clinic, USA, African-Americans have a significantly higher risk of developing scleroderma than Americans of European descent. African-Americans with systemic scleroderma high a much higher chance of developing severe lung complications compared to other people with system scleroderma.
  
• Gender - the incidence of scleroderma among females is four times higher than in males.
  
• Environmental factors - miners who are exposed to silica dust, workers exposed to certain industrial solvents (e.g. paint thinners), as well as patients who are given certain chemotherapies have a higher risk of developing scleroderma.

What are the causes of scleroderma?

Scleroderma occurs when the body produces and accumulates too much collagen in tissues. Collagen is a fibrous type of protein which makes up the body's connective tissues (including skin).

Experts suspect that the body's immune system plays a role in the abnormal production of collagen. The individual's immune system attacks the body, resulting in inflammation and the production of too much collagen. Experts do not know what triggers this.

Diagnosing scleroderma

Scleroderma may be difficult to diagnose because it can develop gradually and present itself in several different forms. Experts say that there is no single test that can make a definitive diagnosis. The doctor needs to look at the whole person, taking into account signs and symptoms, the results of a physical examination and some tests. Diagnosis often requires the expertise of a rheumatologist, a doctor who specializes in joint and connective tissue diseases.

The following tests may be ordered:

• Fingernails - a skin microscope is used to look at the tiny blood vessels (capillaries) in the nail area. Changes associated with systemic sclerosis may be detected.
  
• Skin biopsy - a small sample of the affected skin is extracted and examined under a microscope.
  
• Blood test - patients with scleroderma usually have high levels of certain antibodies.
  
• Other tests - other tests to detect any lung, heart or gastrointestinal complications may also be ordered.

What are the treatment options for scleroderma?

There is currently no treatment that can cure scleroderma. No medication can halt the overproduction of collagen. The localized variety of scleroderma may resolve on its own. Some medications may help control scleroderma symptoms and also help prevent complications.

The doctor's aim will be to:

• Relieve symptoms
• Try to prevent the condition from progressing, or at least slow down its speed of progression
• Detect and treat complications as soon as possible
• Minimize possible disabilities

Medications

• Dilating blood vessels - blood pressure medications that dilate the blood vessels may help prevent some organ problems (e.g. kidney or lung). They may also help treat Raynaud's disease.
  
• Immune system - some medications, known as immunosuppressants, may suppress the immune system (calm it down). These are the same medications organ transplant recipients use to stop their immune systems from rejecting the new organ.

Therapy

• Physical therapy (UK: physiotherapy) or occupational therapy - the patient may be helped to manage pain, improve mobility, gain more strength. Certain strategies may be learnt to help the patient perform essential daily tasks. An occupational therapist may advise on certain aids, such as splints, which support the joints and help the patient carry out daily tasks more successfully.
  
• Skin appearance - exposure to ultraviolet light may help improve the appearance of certain skin lesions.
  
• Dental checkups - if the patient has dry mouth symptoms regular dental checkups are essential.

Surgery

• Amputation - if ulcers on the fingers have developed gangrene it may be necessary to amputate (more common with severe Raynaud's disease).
  
• Lung transplant - if the patient has developed pulmonary hypertension (high blood pressure in the arteries to the lungs), a lung transplant may help.
  
• Laser surgery may be used to help with tight skin, eliminate lesions, or camouflage them.

What are the possible complications of scleroderma?

Scleroderma complications may be mild, severe and even life-threatening.

Raynaud's complications - restricted blood flow may permanently damage the fingertips, resulting in pits or ulcers in the flesh. Gangrene can occur, leading to amputation.

Lung complications - pulmonary fibrosis (scarring of lung tissue) can lead to reduced lung function, making it harder to breathe properly. The patient may also develop pulmonary hypertension - high blood pressure in the pulmonary artery that conveys blood from the right ventricle (of the heart) to the lungs. The lungs can become permanently damaged, and there may be failure of the right ventricle.

Kidneys - kidney damage can result in hypertension (high blood pressure) and excess urine protein levels. In some cases there may be a sudden increase in blood pressure and rapid kidney failure (renal crisis) - symptoms include headache, vision problems, seizures, breathlessness, swelling of the legs and feet, or reduced urine production.

Heart - arrhythmias (abnormal heartbeats) and congestive heart failure may result from scarring of heart tissue. The patient may develop pericarditis - inflammation of the lining around the heart (the pericardium); this causes chest pain and fluid build-up around the heart (pericardial effusion).

Teeth - the facial skin may tighten so much that the mouth becomes smaller, making it harder to brush one's teeth; even having one's teeth professionally cleaned may be difficult. Dry mouth is common in patients with scleroderma - this increases the risk of tooth decay. Acid reflux may destroy tooth enamel. Changes in gum tissue may result in loose teeth (they may even fall out).

Sexual function - male erectile dysfunction is common. Women's vaginal opening may be constricting, making sexual function harder. Females with scleroderma may also experience decreased sexual lubrication.

Thyroid - the thyroid gland can become underactive (hypothyroidism).

Joints and muscles - if tight skin limits the movement of a joint, muscles and joints may become affected.

Intestines - the intestines may become underactive, resulting in bloating, constipation, and some other problems.