What you need to know about scleroderma

Sclerodermia refers to a variety of disorders that compress and harden the skin and connective tissues. It is a progressive, long-term illness. That means it’s gradually getting worse.

It is considered a rheumatism disease and a disorder of the connective tissues. It is also known to be an autoimmune disease, in which the body’s own immune system attacks tissues of the body.

This results in an overproduction of collagen, the protein on which connective tissue is based. The result is a fibrosis, or thickening, and tissue scarring.

Sclerodermia is not contagious. It that run in families but mostly occurs in patients without any history of the disease in their family. It goes from extremely mild to potentially fatal. Up to 1 in 3 people experience extreme symptoms with the disease.

About 75,000 and 100,000 people in the US are believed to be affected, mainly women aged about 30 and 50 years.

Symptoms

Scleroderma can cause swelling of the hands and thickened skin on the fingers.
Scleroderma can cause swelling of the hands and thickened skin on the fingers.

Early signs of scleroderma include changes in the fingers and hands due to exposure to cold or emotional stress, for example, stiffness, tightness and puffiness.

The hands and feet can get swelling, particularly in the morning.

Overall symptoms of scleroderma include:

  • calcium deposits in connective tissues
  • a narrowing of the blood vessels to the hands and feet, known as Raynaud’s disease
  • problems of the esophagus, which links the throat and stomach
  • tight, thickened skin on the fingers
  • red spots on the face and hands

Symptoms, however, can differ depending on the condition and how it affects the individual, and whether it affects one part of the body or an entire system.

Types

Localized and systemic are the two main forms of scleroderma.

Localized scleroderma affects primarily the skin, but it may affect the muscles and bones.

Systemic scleroderma affects the entire body, including the blood and internal organs and especially the kidneys, esophagus, heart, and lungs.

Localized scleroderma

The most mild type of scleroderma is located scleroderma. The internal organs are not affected. Two major forms exist: morphea, and linear scleroderma.

Morphea: Signs include oval-shaped areas of lighter or darker skin that may be itchy, hairless, and shiny. The shapes have a purple border, and the center is gray.

Linear scleroderma: The limbs can have bands or lines of hardened skin, and the head and face occasionally. It can affect muscles and bones.

Systemic scleroderma

Systemic scleroderma affects the circulation of the blood and the internal organs.

There are two main types:

  • limited cutaneous systemic sclerosis syndrome, or CREST
  • diffuse systemic sclerosis

Limited cutaneous systemic sclerosis

The least severe form of systemic scleroderma is limited cutaneous systemic sclerosis. On the hands, feet, face and lower arms and legs it affects the skin. Blood vessels, kidneys, and the digestive system may have problems.

It is often referred to as CREST syndrome, because the symptoms shape the acronym CREST:

C: Calcinosis, or calcium deposits in tissues and under the skin

R: Raynaud’s disease

E: Esophageal problems, including GERD

S: Sclerodactyly, or thick skin on the fingers

T: Telangiectasias, or enlarged blood vessels, manifesting as red spots

The first symptom is often the disease of Raynaud, in which the blood vessels in the hands and feet are small, causing circulatory problems in the extremities. In response to stress or cold patients may experience changes in numbness, pain, and colour.

The skin on hands, feet, and face will begin to thicken.

The effect on the digestive system can lead to trouble swallowing and GERD, or acid reflux.

The intestinal muscles may not be able to adequately transfer food into the intestines, and may not absorb nutrients from the body.

Any of those symptoms may have other causes behind them. Not everybody who has Raynaud’s or GERD’s disease should have scleroderma. Many are not.

Diffuse systemic sclerosis

In diffuse systemic sclerosis the thickening of the skin typically affects the area from the hands to the wrists above. It affects the internal organs, too.

People with scleroderma of systemic types can experience weakness, fatigue, trouble breathing and swallowing, and weight loss.

Causes

Research into the cause of scleroderma is ongoing.
Research into the cause of scleroderma is ongoing.

Which causes scleroderma is not understood but it is thought to be an autoimmune condition that causes too much connective tissue to be created by the body. This induces a thickening, or fibrosis, and tissue scarring.

Connective tissue forms the fibers which make up the body supporting structure. They are located under the skin and around the inner organs and blood vessels, which help strengthen muscles and bones.

Genetic factors, and probably environmental factors, are thought to play a role, although this has not been confirmed.

People with scleroderma frequently originate from families where there is another autoimmune disease.

It is not contagious.

Diagnosis

Scleroderma can be difficult to diagnose because it progresses slowly and occurs in multiple ways, and because some of the symptoms may occur in people without scleroderma, such as GERD.

The doctor should do a physical exam and other examinations. The patient can be referred to a rheumatologist, a joint- and connective tissue disease specialist.

Subsequent tests may be required:

  • looking at the skin under a microscope to check for changes in the tiny blood vessels, or capillaries, around the finger nails
  • skin biopsy
  • blood tests to assess the levels of certain antibodies

The doctor should check for symptoms of skin thickening, GERD, shortness of breath, pain in the joints and deposits of calcium. These can also test for complications in the lung, heart, or gastrointestinal tract.

Treatment

There is currently no cure for scleroderma, and no medication can stop the overproduction of collagen. However, organ system complications can be treated to minimize damage and maintain functionality.

Localized scleroderma may resolve on its own. Some medications may help control the symptoms and help prevent complications.

The aim will be to relieve the symptoms, to prevent the condition from worsening, or at least slow it down, to detect and treat complications as soon as possible, and to minimize disabilities.

Treatment depends on how the disease affects the individual.

Blood pressure medication may help dilate the blood vessels. This can reduce problems with the organs, such as the lungs and kidneys, and they can help to treat Raynaud’s disease.

Immunosuppressants may calm, or suppress, the immune system.

Physical therapy may help manage pain, improve mobility, and improve strength. Aids, such as splints, may help with daily tasks.

Ultraviolet light therapy and laser surgery may help improve the condition and the appearance of the skin.

Scientists are continuing to look for a treatment for scleroderma and are optimistic that a solution will be found.

Complications

Dry mouth and tooth decay are possible complications of scleroderma.
Dry mouth and tooth decay are possible complications of scleroderma.

Scleroderma problems vary in severity from mild to life threatening. There’s an elevated chance of cancer, too.

Movements can be limited as the skin tightens and swelling in the hands and fingers and around the face and mouth occurs. Movement of the joints and muscles can also get harder.

Raynaud’s disease can permanently damage the fingertips and toes, leading to flesh pits or ulcers, and probably gangrene, if severe. Amputation may be required.

Complications in the lung may cause issues with breathing. High blood pressure can cause irreversible lung damage in the artery that carries blood from the heart to the lungs, called pulmonary hypertension. The right ventricle of the heart could be failing. It can require a lung transplant.

Kidney damage can cause high blood pressure or hypertension, and excess protein in the urine. Kidney insufficiency is probable. Symptoms include headache, vision disturbances, vomiting, breathlessness, leg and foot swelling and reduced urine production.

Heart arrhythmias, or abnormal heartbeats and congestive heart failure can be due to heart tissue scarring. The patient may develop an inflammation, or lining around the heart, known as pericarditis. That causes pain in the chest and build-up of fluid around the heart.

Dental problems they will come up. If a tightening of the facial skin makes the mouth wider, it can become more difficult even for daily dental treatment. Dry mouth is common, and the risk of tooth decay increases. Acid reflux can damage the enamel of the dents. Changes in gum tissue can result in teeth being loose and falling out.

Sexual function is affected, and male erectile dysfunction is common. A woman’s vaginal opening may be constricted, and there may be decreased sexual lubrication.

The thyroid gland can become underactive. This is known as hypothyroidism, and it causes hormonal changes that slow down the metabolism.

Intestines may become underactive, resulting in bloating, constipation, and other problems. The esophagus may have problems moving solids and liquids into the stomach.

Most fatalities due to scleroderma are associated with lung, heart, and kidney problems.

Management

Depending on the form and severity of the effect, living with a scleroderma can be challenging. No care is available at this time.

However, there are strategies to reduce some of the impact:

  • eating smaller meals to reduce the impact of GERD
  • keeping skin well moisturized and taking care to avoid finger injuries
  • wrapping up warm to minimize circulatory problems
  • doing appropriate exercise to ease stiffness

The Scleroderma Research Foundation offers a number of tips:

These include:

  • avoiding tobacco, alcohol, caffeine, and recreational drugs
  • getting enough sleep
  • minimizing and stress and managing anxiety, for example, through yoga and meditation
  • avoiding processed foods, sugar, and soda

Scleroderma patients are also recommended not to take echinacea, as it improves the immune system. This can be detrimental to people suffering from an autoimmune disorder.

There can be a psychological effect, particularly when there are physical changes. For a person with scleroderma, help from family and friends can be significant.

The Scleroderma Foundation will help you find support and therapy.

Project offers information about scleroderma studies and advances.

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