Scleroderma is a rare and complex autoimmune disease of the skin and connective tissue. It is characterized by a defect in the immune system that creates antibodies against “self,” which results in cell destruction. Skin cell and tissue damage cause inflammation and other responses that lead to an overproduction of collagen. Too much collagen results in “sclerosis,” which is abnormal hardening of connective tissue and skin.
Types of Scleroderma
Scleroderma can be categorized as “localized,” meaning it affects only the skin, or it can be categorized as “systemic,” meaning it affects the skin, as well as blood vessels and major organs, including the heart, lungs and kidneys. These categories each contain various forms of this condition.
1) Localized scleroderma can be categorized further into three types: circumscribed morphea, generalized morphea and linear scleroderma.
Circumscribed morphea: This causes a single or a few patches that can appear as thick and yellow with a red border to develop in one or more places on the skin.
Generalized morphea: With this, multiple sclerotic patches occur in many areas of the body. Common locations for these patches include the arms, trunk and head. A more severe form of this is called pansclerotic morphea, which can cover most of the body.
Linear scleroderma: This type is located in a single area or multiple areas. In its most severe form, linear scleroderma can affect the underlying bones and muscle, impacting proper development and resulting in disability. This form is more common in younger children and varies in severity.
2) Systemic scleroderma affects the skin, bone and muscle; it can extend to the organ and body system that lies beneath the area affected. This can cause loss of flexibility and movement of the limbs. If the facial skin is involved, it can impact facial and mouth movement. It can also cause joint pain. There are three forms of systemic scleroderma:
Limited: This is the most common type. The involvement is less extensive and the damage extending to organs is less likely. Most patients are able to live a relatively normal life. There is a subtype of limited scleroderma known as CREST:
C: Calcinosis
R: Raynaud’s phenomenon
E: Esophageal dysfunction
S: Sclerodactyly
T: Telangiectasia
It’s important to note that many scleroderma patients experience Raynaud’s phenomenon, which is a sensitivity to cold and stress and makes the fingers look white or blue.
Diffuse: The larger areas of the body are affected and can include the extremities, face and trunk. There can be organ involvement, and the damage can be severe. The skin can be dry, tight and itchy. The joints can be painful. The heart and lungs can be affected and cause life-threatening issues. This form of scleroderma can become acute and affect blood pressure, which can in turn cause kidney damage.
Sine: The skin is not affected, but the underlying bone, muscle and organs are affected, and the symptoms and complications occur based on the location of the internal damage.
Because of the various forms of scleroderma and the fact that the skin is the largest organ of the body, each scleroderma patient’s disease differs, and the symptoms and manifestation of the condition are unique to each. Therefore, treatment plans will differ as well and will involve medication, proper diet and exercise, and even physical therapy, along with lifestyle management and changes, especially for dealing with temperature changes and stress. Prognosis depends on all of these factors and how they are managed as well.
In general, most people can live a normal life. But, this requires prompt and proper management and compliance with all aspects of the treatment plan. As with most chronic conditions, proper follow-up and monitoring is important by a physician who specializes in autoimmune conditions and/or scleroderma, as well as any other specialists who can help manage the presenting symptoms. This condition requires a multidisciplinary approach to maximize management and positive outcomes for healthy living.
Cause of Scleroderma
The cause of scleroderma, as with most autoimmune conditions, is unknown. Scleroderma affects women much more than men. Age of onset is 40 years and younger for the localized condition and between 30 and 50 years of age for the systemic condition. It is believed that environmental factors may play a role in triggering the disease, with chemical exposure and viral infections among those causes. Exposure to silica dust has also been investigated as a potential contributory trigger. However, the root of the cause remains a malfunction in the immune system, and although this is not a hereditary condition, genetics can play a role in autoimmune conditions in general. Also, autoimmune conditions tend to be seen in families.
Diagnosing Scleroderma
It can be especially challenging to diagnose scleroderma because the symptoms are individualized and unique to each person. Since chronic autoimmune conditions such as this are difficult to diagnose, it can take a long time to get a proper workup and accurate diagnosis so effective treatment can begin. A proper diagnosis will include taking a thorough medical history and outlining each symptom, laboratory testing that may include tests for the autoantibodies that can cause scleroderma, and a skin biopsy and other tests such as a CT scan to look at potential organ involvement. There can also be a lot of prescribing and testing of various medications, which can also be helpful to rule out other conditions.
It can be especially challenging to diagnose scleroderma because the symptoms are individualized and unique to each person.
Treating Scleroderma
Medications vary greatly depending on presenting symptoms, the type of scleroderma and what parts of the body and organs are affected. Treatment may include:
- Pain management
- Skin care
- Non-steroidal anti-inflammatory drugs and corticosteroids aimed at reducing inflammation
- Immunosuppressive medications that temper the immune response
- Blood pressure management
- Treatment of heartburn and other digestive tract complications
- Intravenous immune globulin (IVIG), which has been used to treat scleroderma over the years
According to data reported in a 2017 review of the efficacy and safety of IVIG in a French nationwide cohort of 46 patients with systemic sclerosis, “IVIG [is] a safe therapeutic option that may be effective in improving musculoskeletal involvement, systemic inflammation, digestive tract symptoms and could be corticosteroid sparing.”
A Complex and Challenging Disease
With any rare condition, part of maximizing outcomes includes finding and working with an expert in the condition. The National Scleroderma Foundation has a listing of designated scleroderma research and treatment centers around the country that can be found at scleroderma.org/treatment-centers.
Scleroderma remains a complex and challenging disease that can affect multiple organ systems and impact quality of life. There are currently more than 500 clinical trials in various phases listed on clinicaltrials.gov. Ongoing research and clinical trials, as well as the multidisciplinary approach, is crucial to optimizing patient care and enhancing quality of life.
References
- Johns Hopkins Medicine. Scleroderma. Accessed at www.hopkinsmedicine.org/health/conditions-and-diseases/scleroderma.
- Sanges, S, Rivière, S, Mekinian, A, et al. Intravenous Immunoglobulins in Systemic Sclerosis: Data from a French Nationwide Cohort of 46 Patients and Review of the Literature.
- Autoimmunity Reviews, 2017 Apr;16(4): 377-384. Accessed at pubmed.ncbi.nlm.nih.gov/28232167.
