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Scleroderma: symptoms, course, therapy

by Josephine Andrews
Published: Last Updated on 175 views

Scleroderma is a connective tissue disease of unknown cause. Typically, there is thickening and hardening of the skin. Scleroderma occurs in two forms: affecting only the skin (localized scleroderma) or affecting the entire body (systemic scleroderma). Read here about the symptoms and how the disease progresses!

ICD codes for this disease:

ICD codes are internationally valid codes for medical diagnoses. They can be found, for example, in doctor’s letters or on certificates of incapacity for work.

M34

quick overview

  • What is scleroderma?: Connective tissue disease, two forms: circumscribed and systemic scleroderma
  • Symptoms: thickening of the skin, Raynaud’s syndrome, masked face, joint and muscle pain
  • Course and prognosis: Depends on which organs are affected
  • Treatment: Not curable, depending on the affected organ
  • Causes and risk factors: autoimmune disease of unknown cause, genetic predisposition
  • Examination and diagnostics: skin and nail fold examination, blood test, ultrasound , X-ray , computed tomography, magnetic resonance imaging, electrocardiogram
  • Prevention: No known preventive measures

What is scleroderma?

Scleroderma refers to a group of diseases in which the skin and connective tissue become thick and hard. If the symptoms are limited to the skin, it is called localized scleroderma. If internal organs such as the lungs , intestines, heart or kidneys are also affected, this is known as systemic sclerosis (also: progressive systemic sclerosis).

forms of scleroderma

Scleroderma is a combination of the Greek words sclero (hard) and derma (skin). This term describes the main symptom of the disease: thickened and hardened skin.

Scleroderma is caused by a disease of the connective tissue. Because this tissue is found almost everywhere in the body, scleroderma usually doesn’t just affect the skin, it spreads throughout the body. Depending on which organs are affected, there are two forms of scleroderma.

Systemic sclerodoma

In systemic scleroderma (also known as progressive systemic sclerosis), the disease is not limited to the skin, but also affects other organs.

Diffuse form: The changes affect all parts of the body, including internal organs.

Limited form: The skin changes are only found from the fingers to the elbow or from the toes to the knee. Other parts of the body such as the chest, abdomen and back remain uncovered, the head is rarely affected. Under certain circumstances, systemic scleroderma extends to the internal organs.

Systemic sclerosis sine scleroderma: It is a special form of sclerosis because the changes are found on the organs but not on the skin.

Overlap syndrome: Doctors speak of overlap syndrome when another (autoimmune) disease such as lupus erythematosus or rheumatoid arthritis occurs in addition to one of the forms mentioned.

Circumscript Sclerodomy

Circumscribed scleroderma is also called morphea. It is characteristic of this form that the changes only affect the skin. Internal organs are not involved.

Depending on the extent and depth of the skin changes (plaques), localized scleroderma is divided into four forms:

  • Limited form
  • generalized form
  • linear shape
  • Deep localized scleroderma (deep morphea)

incidence of scleroderma

Scleroderma is a rare disease, affecting less than 50 people per 100,000 people each year.

Around 1,500 people are diagnosed with “systemic sclerosis” every year, and an estimated 25,000 sufferers live in Germany. The first symptoms most often appear between the ages of 50 and 60, in some cases only after the age of 65. Women are four times more likely than men to develop scleroderma.

“Circumscribed sclerosis” occurs somewhat more frequently: around 27 per 100,000 inhabitants suffer from it every year. Women are three times more likely to be affected than men. The first symptoms usually appear between the ages of 20 and 40. If children are affected, the first symptoms appear around the age of eight.

How do I recognize scleroderma?

Symptoms of systemic scleroderma

Systemic scleroderma can have symptoms all over the body. The following complaints typically occur:

  • Raynaud’s Syndrome:

The first symptom of systemic scleroderma in almost all patients (90 percent of all cases) is the so-called Raynaud’s syndrome. The fingertips (rarely the toes as well) turn white, feel cold and numb. Raynaud’s syndrome occurs mainly when it’s cold, but also when it’s stressful: the small blood vessels in the fingertips spasm, which means that the fingers no longer have sufficient blood flow. If the cramps resolve again, those affected often feel severe pain.

Raynaud’s syndrome is often the first symptom of systemic scleroderma. Go to the doctor as soon as possible if you experience these symptoms!

  • Changes in the skin:

Hardening and scarring can be found in almost all patients with systemic scleroderma, in principle on every skin area.

The hands are particularly often affected. There is swelling and redness on the fingers, which sometimes turn bluish. The skin thickens, especially around the finger joints, and the fingers can no longer be moved as well. The skin becomes tighter, itches and has a waxy shine. Skin folds are difficult to lift off. Those affected report the feeling of wearing a glove that is too tight.

The skin changes often also affect the face: if the skin on the face thickens with scleroderma , facial expressions are severely restricted (mask face). Scarring on the face often affects the eyelids as well. In addition, there is a narrowing of the mouth. Gradually, it only opens to a limited extent, and there are also longitudinal folds around the mouth (so-called tobacco pouch folds). The lips become thin, the frenulum of the tongue becomes shorter due to scarring. In three quarters of all patients, the face and décolleté are noticeably red (telangiectasia).

  • Involvement of the joints:

Sometimes painful calcifications (calcinosis) can be found near small joints, which can be felt as hard knots. This is caused by accumulations of calcium salts under the skin.

  • Muscular involvement:

If the muscles are also affected by scleroderma, pain typically occurs during movement. Those affected report that their muscles tire quickly and that they feel powerless.

  • Damage to internal organs:

Lungs: After the skin, the lungs are the most commonly affected. Deposition of connective tissue can damage the lungs. Those affected develop pulmonary fibrosis or pulmonary hypertension (pulmonary arterial hypertension, PAH), for example. Symptoms of such diseases are shortness of breath and coughing.

Heart: In 15 percent of all cases, scleroderma damages the heart. Inflammation of the heart muscle or pericardium is the most common. If left untreated, life-threatening cardiac insufficiency or cardiac arrhythmia can develop.

Typical signs that the heart is also affected are pain in the chest, severe heart palpitations, fainting spells or swollen legs.

Kidneys: Since the kidneys regulate blood pressure, among other things, high blood pressure is a common side effect of scleroderma. In severe – and very rare – cases, kidney failure occurs.

Digestive tract: Symptoms of scleroderma in the digestive tract include bloating and constipation. Dry mouth and heartburn are other possible symptoms.

  • More symptoms

Systemic scleroderma can affect the entire body. The symptoms are correspondingly diverse and non-specific: they range from tiredness and sleep problems to hoarseness.

Symptoms of localized scleroderma

In circumscribed (delimited) scleroderma, only the skin is affected. Internal organs are not affected. In contrast to systemic sclerosis, Raynaud’s syndrome does not occur.

  • Limited form:

The skin lesions are larger than two centimeters and are located on one or two parts of the body, mostly on the trunk (chest, abdomen, back).

  • Generalized form:

The lesions appear in at least three locations, often on the trunk and thigh, and are often symmetrical.

  • Linear shape:

The skin lesions are band-shaped and run down the length of the body. The most well-known form is called “En coup de sabre”: Here the skin thickens from the eyebrows to the hairline. Hair falls out in the affected areas and scars form . The underlying brain is often affected as well.

  • Deep localized scleroderma (deep morphea):

In this very rare form, there are hardenings in the fatty tissue and in the muscles. It occurs symmetrically on the arms and legs and often begins in childhood. Typical symptom is muscle pain.

How long can you live with scleroderma? Is scleroderma fatal?

Scleroderma affects everyone differently. The disease usually develops insidiously over many years, but sometimes it begins quickly and severely. It is constant in one patient and in spurts in another. In this case, after years of symptom-free phases, there is always an acute flare-up in which the symptoms worsen. How scleroderma progresses individually is difficult to predict.

Circumscript scleroderma

There is no cure for scleroderma, but the symptoms can be treated effectively. In localized scleroderma, hardening is limited to the skin. Affected people therefore have the same life expectancy as non-affected people. In some cases, the disease will go away on its own.

Systemic Scleroderma

In systemic sclerosis, the prognosis depends on which organs are affected and how severely. The disease is rarely life-threatening. The treatment successes have made great progress in recent years, so that it is often possible to slow down the course of the disease. Serious flare-ups can often be avoided entirely.

According to statistics, the so-called 10-year survival rate for systemic scleroderma is currently 70 to 80 percent. This means that 70 to 80 percent of patients are still alive ten years after diagnosis.

If the lungs are affected by scleroderma, the prognosis is usually worse. The most common causes of death in scleroderma are pulmonary hypertension and pulmonary fibrosis.

The lungs of patients with scleroderma are thoroughly examined once a year in order to be able to take countermeasures as early as possible. In addition, the doctor regularly checks the blood and the heart.

What can be done against scleroderma?

According to current knowledge, scleroderma cannot be cured. Depending on which organ is affected, the doctor uses different treatments. It slows the progression of the disease and relieves the symptoms.

Treatment of systemic scleroderma

A cure for systemic scleroderma is not yet possible. However, the symptoms of the disease can be alleviated and its progression slowed down. Doctors therefore also speak of symptomatic treatment (as opposed to causal treatment).

The therapy depends primarily on which organs are affected by the scleroderma and which symptoms are to be alleviated.

If Raynaud’s syndrome is present, hands and feet should be protected from the cold. In addition, the doctor prescribes vasodilating or blood-thinning medication if necessary. So-called calcium antagonists such as nifedipine for mild symptoms and iloprost for severe symptoms improve blood circulation. They widen the blood vessels and reduce the severity and frequency of vascular spasms in Raynaud’s syndrome.

If the lungs are affected by scleroderma, the cytostatic cyclophosphamide is often used. If the kidneys are involved, ACE inhibitors are used.

Light therapy ( PUVA ) as well as lymphatic drainage, physiotherapy and physiotherapy help to counteract stiffening of the fingers in scleroderma.

What can you do yourself?

  • Take care of your skin regularly to avoid scarring. Ask your doctor which care products are suitable.
  • Avoid nicotine and alcohol.
  • Get enough exercise. Regular exercise keeps you fit and contributes to your well-being.
  • Eat a healthy diet: Diet also helps to alleviate the symptoms of scleroderma. Eat little red meat, but lots of fruit and vegetables and unsaturated omega-3 fatty acids (such as in fish). This is how you help your body to minimize inflammation.

Treatment of localized scleroderma

Ointments containing cortisone have an anti-inflammatory effect and are particularly helpful in the active phase of scleroderma. They are prescribed by the doctor and usually applied once a day. In severe forms, the doctor prescribes cortisone tablets.

Light treatment (phototherapy) with UVA light is the most effective treatment for localized scleroderma. It is said to help against inflammation, hardening and thickening of the skin. Together with an active ingredient from the psoralen group, which makes the skin more sensitive to light, this treatment is called PUVA. The PUVA can be applied as a cream (cream PUVA), bath (bath PUVA) or tablet (systemic PUVA). The hardened skin areas usually become significantly softer.

Physiotherapy is also an important part of treatment. It prevents stiff joints and maintains muscle strength. Accompanying lymphatic drainage or connective tissue massage can be helpful.

Causes and risk factors

causes

Scleroderma is an autoimmune disease of unknown cause. In an autoimmune disease, the immune system works incorrectly: it mistakenly identifies its own tissue as foreign and attacks it. The defense substances (antibodies) formed in the process reach the entire body with the blood and cause inflammation in various organs. In response to this, too many connective tissue cells are produced in scleroderma. These are deposited in the skin and organs and cause the tissue to harden. In addition, the inner layer of the blood vessels is damaged.

It is not known why the immune system is not working properly. Doctors assume that several factors play a role.

Possible triggers for the autoimmune disease are:

  • genetic predisposition
  • Hormones (women get sick more often than men)
  • Environmental factors such as infections with viruses and bacteria (Borrelia) or smoking
  • Drugs such as bleomycin, pentazocine
  • Chemicals such as organic solvents, gasoline, formaldehyde

risk factors

The most important risk factor for the development of scleroderma is a corresponding genetic predisposition: in affected families there are usually several cases of scleroderma. However, a genetic predisposition to scleroderma does not mean that those affected will actually develop it. Therefore, it is not recommended that close relatives of affected people have themselves tested for antibodies before the onset of symptoms.

investigations and diagnosis

First of all, the changes in the skin are striking, in the case of systemic scleroderma often associated with Raynaud’s syndrome. The first point of contact if scleroderma is suspected is the internist or dermatologist. He first inquires about the symptoms, followed by a detailed physical examination.

There are no tests that doctors can use to definitely diagnose scleroderma. This is what is known as a diagnosis of exclusion. This means that the doctor carries out many examinations to rule out other diseases.

examination of the skin

The doctor pays attention to typical skin changes that indicate scleroderma. Depending on where they occur, he can further narrow down the diagnosis. Raynaud’s syndrome, for example, does not occur in localized scleroderma. If it is present, it speaks more for systemic scleroderma.

Examination of the small nailfold vessels

Dilated blood vessels in the nail fold – the small gap between the nail wall and the nail bed – are another indication of scleroderma. The doctor uses a microscope or a small camera (dermatoscope) to check the condition of the small blood vessels on the fingernails.

blood test

If systemic sclerosis is suspected, the doctor will examine the blood. Certain antibodies, so-called antinuclear antibodies (ANA), are found in the blood of almost all scleroderma patients. The blood test also provides initial indications of whether the organs are affected.

roentgen

With the help of an X-ray examination, the doctor can determine, for example, bone changes on the fingertips or calcifications in the tissue. The lungs and heart can also be assessed using a chest x-ray.

Computed tomography (CT)

If the doctor suspects that internal organs such as the lungs, kidneys or heart are affected, he orders a computer tomography examination.

Magnetic resonance imaging (MRI)

Some changes are better seen with magnetic resonance imaging (MRI). For example, if the doctor recognizes an “en coup de sabre”, he uses an MRI of the head to examine whether the brain is also affected by scleroderma.

Further investigations

In order to determine whether and to what extent internal organs have been damaged by scleroderma, further examinations may be necessary, for example ultrasound, electrocardiogram ( ECG ), heart echocardiography, lung function test or an esophagus, stomach and colonoscopy .

prevention

Since the exact trigger for scleroderma is not known, there are no concrete measures to prevent the disease. When the first signs point to scleroderma, it is all the more important to see a doctor at an early stage. In this way, the course of the autoimmune disease can be favorably influenced.

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