Scleroderma Treatment in Ankara, Turkey

Scleroderma is a chronic autoimmune connective tissue disease characterized by progressive hardening (fibrosis) in the skin and internal organs as a result of the immune system perceiving its own tissues as foreign and attacking them. This process, in which the body produces more collagen than normal and thickens the tissues, has a complex mechanism that affects the vascular structure and the immune system rather than being a simple skin problem. In clinical practice, it is basically examined and managed under two main headings: Localized Scleroderma (Morphea), which involves only the skin and subcutaneous tissues, and Systemic Sclerosis (SSc), which can affect vital organs such as the heart, lungs, and kidneys.

What Is Scleroderma and Why Does It Occur in the Body?

To understand scleroderma, we must first look at our body’s natural healing mechanism. Under normal conditions, when your finger is cut or you are injured somewhere, your body produces a protein called collagen to repair that area. This is like the cement of the body; it holds tissues together and closes the wound. In scleroderma, however, even though there is no actual wound or cut, the body enters a continuous and unstoppable repair process as if there were one. The immune system gives the command “produce more collagen” with a false alarm signal. This extra collagen accumulates in the tissues, piles up, and thickens and hardens the skin, which is normally elastic and soft.

The question of why this process begins is the part our patients are most curious about. We often encounter the question, “What did I do wrong?” However, there is no single culprit for this condition. Although a genetic predisposition lays the groundwork, this disease is not a classic hereditary disease that passes directly from mother to baby. Environmental factors added on top of the genetic inheritance pull the trigger.

Some of these triggering factors are:

• Some viral infections
• Exposure to silica dust
• Organic solvents
• Epoxy resins
• Some chemotherapy drugs
• Cellular changes during pregnancy

When the body encounters these triggers, the cells in the vessel wall begin to be damaged. This damage puts the immune system on alert and a vicious cycle begins. Both the vascular structure deteriorates and the tissues begin to harden. Therefore, the disease is not only a skin problem but also a vascular and immune system problem.

What Are the Differences Between Localized Scleroderma and Systemic Sclerosis?

The most important distinction when managing the disease is related to where the involvement is. As dermatologists, the first thing we look at when evaluating the patient is whether the process remains limited only to the skin or whether it has spread to the internal organs. This distinction determines both our treatment plan and the frequency of follow-up.

Localized Scleroderma, as the name suggests, progresses in a more limited area. Here, the battlefield is generally the skin, subcutaneous fat tissue, and sometimes muscles. We do not expect the internal organs (such as the heart, lungs, and kidneys) to be affected in this group. It is sometimes also known among the public simply as “Morphea.” It manifests itself as hard, shiny plaques on the skin, sometimes with darkened or lightened color.

The types of morphea are:

• Plaque morphea
• Generalized morphea
• Linear scleroderma
• En coup de sabre
• Deep morphea

On the other side is Systemic Sclerosis. Here, the situation is a little different. The disease may affect not only the skin but also the blood vessels and internal organs. In the systemic form, the hardening in the skin may start from the fingertips and progress upward. This group is also divided within itself according to the extent of involvement. In some patients, only the fingers, hands, and face are affected (Limited involvement), while in others, the trunk, upper parts of the arms, and legs may also be affected (Diffuse involvement). In the systemic form, early diagnosis and protection of the organs are of vital importance.

Why Does Raynaud’s Phenomenon Occur and What Symptoms Does It Present With?

In a very large proportion of patients with systemic sclerosis, and sometimes even years before skin hardening begins, the first and most important symptom is Raynaud’s phenomenon. This is not a simple feeling of cold hands. It is the sudden and severe constriction (spasm) of the finger vessels during cold weather, contact with cold water, or moments of intense stress.

Normally, all of our hands get cold in the cold, but in Raynaud’s phenomenon, the vessels constrict so much that blood flow to the fingertips almost completely stops. This condition can be seen not only in the hands but sometimes also in the toes, ears, and tip of the nose. Patients usually describe this condition as “the life is being pulled out of my fingers.”

The color changes during an attack are:

• Whitening
• Purple discoloration
• Redness

In the first stage, the fingers turn chalk white because blood is not reaching them. As the oxygen in the tissue is depleted, the color turns purple. When the environment warms up or the stress passes, the vessels suddenly open, blood rushes in, and the fingers become bright red. This final stage is usually accompanied by tingling, burning, and severe pain. These long-lasting and frequently recurring attacks can lead to nutritional impairment at the fingertips. Therefore, Raynaud’s is a very valuable early warning system for us.

How Are the Changes Seen in the Skin and Sclerodactyly Recognized?

Skin involvement in scleroderma is not something that happens in one day. It is a dynamic process that evolves over time. Our patients generally complain in the early periods of swelling in their hands, especially when they wake up in the morning. In this edematous period, which we can also describe as the “sausage finger” appearance, patients have difficulty wearing their rings and struggle to make a fist.

As time progresses, this edema gives way to hardening. The skin thickens, loses its elasticity, and adheres tightly to the underlying tissues. It becomes impossible to pinch and lift the skin. We call this hardening seen especially in the fingers “sclerodactyly.” The skin of the fingers becomes so tight and shiny that the finger folds disappear and the fingers may remain in a slightly bent position.

The changes in the facial area are also quite characteristic. As a result of reduced facial expressions, a dull expression that we call “mask face” may appear.

The main changes seen on the face are:

• Microstomia
• Sharpening of the nose
• Thinning of the lips
• Perioral lines
• Loss of facial expression
• Telangiectasias

Vertical lines may form around the lips, as if tightened with a drawstring. In addition, small red vascular enlargements (telangiectasias) that fade when pressed and resemble a spider web or square shape may be seen on the face, lips, and hands. Calcium accumulations under the skin can also form hard palpable nodules, and these can sometimes damage the skin and cause a white discharge with a chalk powder consistency.

Which Methods and Technologies Are Used When Making the Diagnosis?

The diagnosis of scleroderma is not a process simple enough to say “present” or “absent” with a single blood test. The diagnosis is made by combining a detailed history, physical examination, and supportive tests. As a dermatologist, our most important diagnostic tool is actually our hands.

In the physical examination, we use a method called the Modified Rodnan Skin Score (mRSS) to measure the hardness of the skin. We divide the body into 17 different regions and score the thickness of the skin by examining each region one by one with our hands. This score guides us in understanding the severity of the disease and in monitoring whether the treatment is working.

In addition, the method we call nailfold capillaroscopy is the gold standard in early diagnosis. This procedure is completely painless and does not require a blood draw. By dropping a special oil onto the nail folds, we examine the capillaries at the base of the nail with magnifying devices called a dermatoscope or videocapillaroscope. In scleroderma, these capillaries show very typical changes; some enlarge, some bleed, and in some areas the vessels disappear completely. This image gives us very valuable clues about whether the disease is systemic.

Serological tests, namely blood tests, are also an important part of the diagnosis. Certain special antibodies produced by the immune system help us determine the subtype of the disease and which organs carry the risk of involvement.

The antibodies frequently checked are:

• ANA
• Anti-Scl-70
• Anti-Centromere
• Anti-RNA Polymerase III
• Anti-U1 RNP

For example, while positivity for Anti-Centromere antibody generally indicates a more slowly progressing, limited involvement, Anti-Scl-70 positivity prompts us to be more cautious regarding the risk of lung involvement.

What Can Be Done in the Treatment of Localized Scleroderma (Morphea)?

In morphea treatment, our main goal is to extinguish the active inflammation, stop the plaques from expanding, and soften the hardened skin again. The treatment plan is arranged individually according to the number, depth, and location of the lesions.

If the lesions are few in number and superficial, topical treatments are our primary choice. Strong cortisone creams or creams containing calcipotriol (a vitamin D analogue) may be used. Sometimes injecting directly into the plaques is also an effective method. To avoid the side effects of long-term use of cortisone creams, creams containing calcineurin inhibitors (such as tacrolimus) are also part of our treatment arsenal.

In patients with widespread involvement, phototherapy (light treatment) is a very powerful weapon. Especially light in the UVA-1 wavelength can penetrate into the deeper layers of the skin. This light affects the cells responsible for hardening in the skin and increases the production of enzymes that break down collagen. Thus, it allows the hardened tissue to soften over time. This treatment is generally applied in several sessions per week and requires patience, but its results are quite gratifying.

In more severe cases, such as linear scleroderma that extends beneath the skin to the muscles or bone, or in lesions that restrict joint movement, we switch to systemic treatment (oral or injectable medications).

The main methods used in the treatment of morphea are:

• Topical corticosteroids
• Topical calcineurin inhibitors
• Topical vitamin D analogues
• Intralesional injections
• UVA-1 phototherapy
• Bath PUVA treatment
• Systemic methotrexate
• Systemic corticosteroids
• Mycophenolate mofetil

How Are Systemic Sclerosis and Organ Involvement Managed?

In the systemic form, the treatment approach is much more comprehensive. Here, the role of the dermatologist is to manage skin hardening and solve vascular problems, while following the patient in coordination with other specialties (Rheumatology, Chest Diseases, Cardiology). Since the disease can affect different systems of the body, the treatment must also be multifaceted.

Drugs that regulate the immune system (immunosuppressants) form the backbone of treatment to stop the progression of the disease. Especially in periods when the hardening in the skin progresses rapidly or when lung involvement begins, starting these drugs early is critical in terms of preventing permanent damage. Agents such as Methotrexate and Mycophenolate Mofetil are frequently used for this purpose.

The kidneys are among the organs at risk in scleroderma. It is very important for patients to monitor their blood pressure in order to prevent the condition of “renal crisis,” which progresses with a sudden rise in blood pressure. Blood pressure medications from the ACE inhibitor group play a vital role in managing this risk.

In gastrointestinal involvement, reflux and difficulty swallowing are common. The patient’s quality of life is tried to be improved with stomach-protective drugs and dietary adjustments. Regular pulmonary function tests and echocardiography follow-ups are performed to understand whether hardening (fibrosis) or vascular pressure (PAH) has developed in the lungs.

The drug groups used in systemic treatment are:

• Methotrexate
• Mycophenolate mofetil
• Cyclophosphamide
• Rituximab
• Low-dose corticosteroids
• ACE inhibitors
• Proton pump inhibitors
• Bosentan
• Sildenafil

Which Treatments Are Applied for Vascular Problems and Digital Ulcers?

Protecting vascular health is one of the most difficult but most important parts of scleroderma management. Circulatory disorder developing due to Raynaud’s phenomenon can cause very painful, difficult-to-heal wounds (digital ulcers) at the fingertips. These wounds are prone to infection and seriously limit the patient’s daily life.

We follow a stepwise approach in treatment. In the first step, oral medications that dilate the vessels (calcium channel blockers) are started. Although these are generally known as blood pressure medications, they increase blood flow by relaxing the finger vessels. If this is not sufficient, stronger vasodilators (phosphodiesterase inhibitors) are added to the treatment.

In stubborn, non-healing wounds that do not respond to oral treatments, inpatient intravenous drug administration may be required in the hospital. This drug, called iloprost, strongly dilates the vessels, ensures nutrition of the tissue, and accelerates the healing process. In addition, special drugs such as endothelin receptor antagonists may also be used to prevent new ulcers from developing.

The recommendations for vascular protection are:

• Calcium channel blockers
• Phosphodiesterase inhibitors
• Intravenous iloprost treatment
• Endothelin receptor antagonists
• Aspirin
• Warm gloves
• Hand warmers

What Should Patients Pay Attention to in Daily Life?

Living with scleroderma is not just about taking medication. Small changes to lifestyle positively affect the course of the disease and quality of life. The most important rule is to avoid the cold. It is necessary to keep not only the hands but the whole body warm. Because when the body gets cold, it reflexively constricts the vessels in the hands and feet to preserve heat. Therefore, dressing in layers, using gloves, and avoiding exposure to cold water are very important.

Nutrition is another important issue. To avoid increasing reflux complaints, it may be beneficial to eat small and frequent meals, stop eating at least 3 hours before going to bed, and sleep with the pillow elevated. In addition, drinking plenty of water and using moisturizer regularly to preserve the skin’s moisture reduces the feeling of tightness.

Physical activity and exercise are part of the treatment in order to preserve joint range of motion and increase skin elasticity. Especially hand and mouth exercises are effective in preventing contractures (permanent contractions).

The daily life recommendations are:

• Definitely quitting smoking
• Protecting yourself from the cold
• Using gloves
• Moisturizing the skin regularly
• Protecting yourself from the sun
• Doing regular exercise
• Staying away from stress
• Paying attention to dental hygiene
• Following a reflux diet
• Elevating the pillow

In Which Situations Are Cosmetic Dermatology and Laser Applications Preferred?

After the active period of the disease is brought under control, we can benefit from the possibilities of cosmetic dermatology to correct the residual marks and deformities. These applications are highly valuable in facilitating our patients’ adaptation to social life and increasing their self-confidence.

Especially for those red, spider web-like vascular enlargements (telangiectasias) on the face and hands, vascular lasers (such as Pulsed Dye Laser) provide very effective results. These lasers target only the enlarged vessel and erase it without damaging the surrounding tissue. Generally, 1-3 sessions may be sufficient.

Fat injections (lipofilling) can be applied in depressions on the face caused by “en coup de sabre” or in tissue losses at the fingertips. The fat tissue taken from the patient’s own body both adds volume and, thanks to the stem cells it contains, improves the quality of the skin in that area and allows it to soften. For the lines around the lips or deformities of the nose, filler applications or laser treatments are also among the options.

The applications performed for cosmetic purposes are:

• Pulsed Dye Laser
• Nd:YAG Laser
• Fractional CO2 Laser
• Fat injection
• Hyaluronic acid fillers
• PRP treatment