What Is Scleroderma?

Scleroderma is a rare disease that causes complications in the skin and internal organs. Let's see all its types and what we know about it.
What Is Scleroderma?

Last update: 31 July, 2021

Scleroderma, also known as progressive systemic sclerosis, is an autoimmune disease that affects the connective tissues of the skin. According to the National Organization for Rare Disorders (NORD), it’s more common after middle age and in women. It’s a chronic condition that causes the skin to become thick, hard, and stiff.

This disease has varying manifestations among patients. Some develop it with mild symptoms, whereas others can experience complications in internal organs that can affect life expectancy.

Having said that, it isn’t a contagious, cancerous, or infectious condition, despite the prejudice that many may have about it. Today we’ll tell you everything we know about it.

What are the causes of scleroderma?

Scleroderma is an autoimmune disease
An autoimmune disorder is when our bodies think our own tissues or cells are foreign bodies. This triggers inflammatory reactions that explain the symptoms of scleroderma, for example.

As the Scleroderma Foundation reminds us, the exact causes of the disease are still unknown. However, researchers do know that it’s an autoimmune disorder. This is where the damage is caused by the body attacking itself by mistake. Immune imbalances, oxidative stress, genetic predisposition, and some environmental factors can encourage its development.

We know a little about the autoimmune mechanisms in this case. The cells of the body begin to produce collagen as if they were undergoing a process that requires healing. However, collagen production doesn’t stop when it should, thus generating the complications associated with the disorder.

According to the Johns Hopkins Scleroderma Center, it’s estimated that fewer than 500,000 people have the disease in the United States. About six out of seven cases are diagnosed in women and it’s most common between 35 and 50 years of age. If you have an autoimmune disease (or there’s a record of it in your family history), you’re more likely to develop it.

Types of scleroderma

In general, scleroderma is usually divided into two categories: localized and systemic. The first affects only the skin, while the second also affects the tissues underneath it, the blood vessels, and some organs. Each one has its own manifestations, and these are described by Johns Hopkins Medicine.

Localized scleroderma

As we already indicated, the majority of patients diagnosed with this variant only develop symptoms on the skin. The lesions produced can disappear or improve intermittently, and so it’s a more acute type and with a favorable prognosis. There are three types:

  • Circumscribed morphea: This is characterized by the presence of a single patch on the surface of the skin. This is usually oval with a pale yellow center (it is not uncommon, however, for it to be discolored). Evidence indicates that patches can manifest on the trunk and extremities.
  • Generalized morphea: In this case, the symptoms appear in different parts of the body, usually in at least four. The patches are usually thicker and can join together over time. You can develop a chronic variant known as pan-sclerotic morphea. Studies suggest that the latter is more common after the age of 14.
  • Linear: This is more frequent in children, specifically in those under 10 years of age. It’s characterized by a single band that affects the extremities, torso, or face.

Systemic scleroderma

Most of the cases with this variant develop a chronic thickening of the skin accompanied by lesions in organs of the body. In turn, experts distinguish three subtypes:

  • Limited: This is the most common and its peculiarity is that the outbreaks are concentrated in limited places. The face, forearms, fingers, and hands are often the most affected. The risk of complications with this variant is low. Some patients may develop a subtype of this condition called CREST, but we’ll talk about this below.
  • Diffuse: Similar to the previous one, but the affected surface is greater. Chronic outbreaks can spread to the arms, trunk, and legs. It can even cause damage to some organs, such as the heart, lungs, and kidneys.
  • Sinusoidal: Researchers distinguish two variants of this condition. In the first, no skin symptoms develop, although damage to internal organs prevails. In the second, patients don’t show any sign on their skin, but these may appear in the future. Organ damage remains in this second variant.

As you can see, specialists have identified many different variants of scleroderma. We have already discussed the possible symptoms that distinguish them, but now we’ll explore the general signs that can help us to guide their diagnosis.

Scleroderma symptoms

According to the National Institute of Arthritis and Musculoskeletal and Skin Diseases, the disease is characterized by two patterns in the skin:

  • Oval-shaped patches that appear in a specific area.
  • Lines on the skin with a thick appearance and in different tones. These generally appear in the extremities.

Based on the variant that you have developed, you may experience CREST syndrome. Following the Arthritis Foundation, the acronyms (translated from English) respond to the following characteristics:

  • Calcinosis: These are calcium deposits under the skin. Sometimes there may also be sedimentation in the tissues.
  • Raynaud’s phenomenon: An abnormal response to temperature that causes the fingers and toes to change color, become numb, and tingle.
  • Esophageal dysmotility: This condition causes difficulty swallowing. It can also manifest itself through chest pain and a burning sensation in the throat.
  • Sclerodactyly: thickening of the fingers and toes. It can also cause atrophy in these areas.
  • Telangiectasias: An enlargement of the blood vessels that manifests itself through red spots on the skin.

Abnormal dryness on the surface of the skin, a feeling of stiffness and fatigue are common in most types of scleroderma. However, each variant has its own peculiarities. As we’ve seen, some aren’t even obvious to the naked eye.

How is it diagnosed?

Scleroderma has a varied diagnostic process
Sometimes, the diagnosis of scleroderma can be a bit complex. The combination of clinical findings and laboratory test results can guide the specialist.

There’s no test to detect scleroderma. Usually, the specialist performs a series of tests to rule out other possible sources of the symptoms. The first step is to analyze the patient, review their medical history, underlying conditions, history of similar illnesses in the family, and presentation of symptoms.

After this, and in accordance with the American College of Rheumatology, a doctor will use any of the following options:

  • Blood tests
  • Urine analysis
  • X-rays
  • CT scans
  • Ultrasounds
  • Magnetic resonances
  • Thermography

These tests will rule out conditions that may be catalysts for the symptoms you’re experiencing. They’ll also carry out inspections of the breakouts on your skin to rule out other autoimmune or infectious disorders. If the signs point in this direction, they may ask for gastrointestinal and cardiorespiratory tests.

As you can see, it’s a very difficult condition to diagnose. In addition, scleroderma is a rare disease, and, in some areas, the rheumatologists may not be experienced enough to distinguish it from other diseases.

Treatment options

There’s no cure for scleroderma. The objective of the specialist will be to stop the evolution of the symptoms and prevent the outbreaks from evolving into chronic episodes.

Most of the drugs used for other autoimmune conditions have no effect, although the doctor will still try some to assess your body’s response. Stanford Health Care states that the following are the most used:

  • Non-steroidal anti-inflammatory drugs
  • Corticosteroids
  • Penicillin
  • Immunosuppressants

Specific medications will focus on counteracting fatigue, heartburn, and other related complications. According to the possible damage to the organs, the specialist will initiate a personalized therapy for each case. Physical therapy and exercise sessions are also recommended to avoid muscle decompensation.

In turn, you can use special lotions and moisturizers to improve the aesthetics of the buds. The disease will be kept under constant surveillance in order to detect possible evolutions or the risk of damage to other organs. If you detect some of its signs, don’t hesitate to seek medical assistance to begin the diagnostic process.

  • Fett, N. M. Morphea (localized scleroderma). JAMA dermatology. 2013; 149(9): 1124-1124.
  • Kucharz EJ, Kopeć-Mędrek M. Systemic sclerosis sine scleroderma. Adv Clin Exp Med. 2017 Aug;26(5):875-880.
  • Maragh SH, Davis MD, Bruce AJ, Nelson AM. Disabling pansclerotic morphea: clinical presentation in two adults. J Am Acad Dermatol. 2005 Aug;53(2 Suppl 1):S115-9.
  • Singh D, Parihar AK, Patel S, Srivastava S, Diwan P, Singh MR. Scleroderma: An insight into causes, pathogenesis and treatment strategies. 2019 Jun;26(2):103-114.

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