Scleroderma | Specialists and Information

Scleroderma is an autoimmune-mediated chronic disease affecting the connective tissue in the skin and organs. As the elastic connective tissue proliferates and hardens, the skin undergoes sclerosis—that is, it hardens and becomes less elastic. Below you will find further information as well as specialists in the treatment of scleroderma.

Scleroderma – Autoimmune Thickening of the Skin

Scleroderma, also known as systemic sclerosis, is an autoimmune disease that belongs to the group of so-called connective tissue diseases (collagenoses). Scleroderma is a chronic, progressive condition that leads to the proliferation and hardening of connective tissue in the skin and in a variety of organs, such as the lungs. In addition, the disease places a significant psychological burden on patients. Those affected should consult a doctor early on in order to positively influence the course of the disease through treatment.

What forms of scleroderma are there?

Women are generally affected more often than men. Nevertheless, with about 50 cases per 100,000 people, scleroderma is considered a rare disease. In addition, two forms of scleroderma are distinguished, each with its own clinical presentation:

1. Circumscrit (well-defined) scleroderma, which is strictly localized to the skin.
2. Progressive, systemic scleroderma, which affects other organs in addition to the skin. 

Causes of the Disease

The exact causes or possible triggers of scleroderma are unknown. It is very likely that defects in the body’s immune system are involved. In addition, those affected have abnormalities in the collagenous connective tissue, which leads to an overproduction of collagen. This excess of collagen fibers causes the skin to harden; doctors refer to this process as sclerotization. 

What symptoms occur in scleroderma?

An early symptom typical of both forms of scleroderma is what is known as “Raynaud’s syndrome.” In this condition, exposure to cold or stress causes a sudden, sometimes painful blanching of the fingers, followed by reactive hyperemia—an increased blood flow to the fingers. This is caused by circulatory disturbances resulting from the sclerotization of the skin and blood vessels.

In Raynaud’s syndrome, individual fingers turn pale, become numb, or hurt @ Petra Richli /AdobeStock

As the condition progresses, inflammation and swelling occur on the skin, lower legs, toes, and fingers. The skin gradually thickens and receives less blood flow, giving it a waxy, pale appearance. Due to the increasing thickening of the skin, joints also become stiff. In addition, in the late stages of scleroderma, characteristic changes may occur in the fingers and face; for example, it becomes difficult to open the mouth.

In systemic scleroderma, internal organs may also be affected, most commonly the lungs. This results in pulmonary fibrosis, shortness of breath, and coughing. The heart and kidneys are also frequently affected; in rare cases, this can even lead to kidney failure.

What diagnostic options do doctors have?

The diagnosis of scleroderma is primarily based on the symptoms. In addition to the classic skin appearance, tissue samples are taken and examined. Furthermore, the erythrocyte sedimentation rate and possible autoantibodies can also be determined in the laboratory. In most cases, for example, antinuclear antibodies (ANA) are found in the blood of those affected. Anti-Scl-70 (anti-topoisomerase I) and anti-centromere antibodies are particularly commonly reported. 

Laboratory test results can also reveal organ involvement in scleroderma. Abnormal kidney function and muscle enzyme levels are frequently observed. X-rays reveal bony and hardened structures in the skin and organs. ECGs, ultrasound examinations, or computed tomography (CT) scans can also detect lung and/or heart involvement.

When should you consult a doctor?

In general, patients with scleroderma should always have their condition treated by a doctor. As the disease progresses, significant limitations in quality of life are to be expected without treatment. 

In particular, if circulatory problems occur or if prolonged skin pallor and pain suggest scleroderma, those affected should have their symptoms evaluated by a doctor. 

Which specialists treat scleroderma?

Scleroderma patients should first consult a general practitioner (“family doctor”) or an orthopedist for treatment. Whether other specialists need to be consulted depends on the nature and severity of the scleroderma. 

Treatment Options for Scleroderma

Treatment for scleroderma is tailored to the specific symptoms. There is no causal treatment—that is, treatment that addresses the underlying cause. However, treated scleroderma or systemic sclerosis does not reduce life expectancy.

An improvement in quality of life is usually achieved through appropriate physical therapy or occupational therapy. Additional relief can be provided by

• heat treatments,
• acupuncture, and
• massage. 

Acupuncture can improve blood circulation and relieve chronic pain in scleroderma @ Andrey Popov /AdobeStock

Possible complications of scleroderma include, among other things, pain, limited mobility, and severe inflammatory episodes. In such cases, anti-inflammatory medications are typically used, such as acetylsalicylic acid, immunosuppressants, as well as ACE inhibitors or glucocorticoids.

Prognosis

Scleroderma is currently incurable. Spontaneous remission is also unlikely. Treatment for systemic sclerosis is therefore primarily based on the specific symptoms and is mainly aimed at improving the quality of life for those affected. The course of the disease cannot be predicted.

In general, patients need to take various medications regularly and at the appropriate dosage to slow the progression of the disease and maintain their quality of life. Regular checkups with a doctor also ensure that changes in organ function are detected as early as possible.