Scleroderma

Scleroderma literally means “hard skin”. It is a chronic, progressive and degenerative disorder with no known cause or treatment that will stop its progression. Scleroderma, in its severe form, is a life-threatening disease that affects multiple organs in the body. In the most severe cases the organs will eventually shut down. It is estimated that in America alone some 300,000 people have some form of the disease. This is a similar population as patient groups that suffer from multiple sclerosis, muscular dystrophy and cystic fibrosis.

Scleroderma predominately affects women between the ages of 30 and 50, however men and children of all ages can also be affected and there are no ethnic boundaries. Scleroderma is an autoimmune disease which affects the skin and presents also with inflammatory and vascular disease. In severe scleroderma multiple organ systems such as the heart, lungs, blood vessels, kidneys and the gastrointestinal tract can be involved – often with fatal consequences.

There is major and at times irreversible tissue damage - including the hardening of skin and organ tissue, shrinking of muscles and damage to the tendons. Some patients who have severe damage even lose mobility in their joints, especially of the hand. Facial skin and muscle damage can be disfiguring and it is often extremely painful.

If you present with any of the following symptoms it is advisable to immediately see a rheumatologist or other knowledgeable physician for diagnosis and appropriate treatment:
  • Thickening of the skin
  • General fatigue
  • Stiffness of hands and feet
  • Unexplained swelling/puffiness
  • Swallowing difficulties
  • Raynaud’s phenomenon where the feet and hands change colour from white to red to blue in response to either cold or stress
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    There are two types of Scleroderma, each as several sub-types as shown below.
    Systemic scleroderma (systemic sclerosis) Localized scleroderma
    Limited systemic sclerosis Localized morphea
    Diffuse systemic sclerosis Generalized morphea

    LOCALIZED SCLERODERMA - Dr Tirant can assist in the treatment of this form.

    In localized scleroderma the skin is usually the only organ affected. In severe cases, however, the muscle and tissue below may also be affected and harden. Because internal organs are usually not affected by localized scleroderma, it is not considered a life-threatening disease and is the least serious form of the condition.

    Symptoms of localized scleroderma will, in many cases, improve or resolve on their own over several years. However any scar tissue build up or muscle and tendon damage is often permanent. For some patients, localized scleroderma can be disfiguring and painful. In rare cases, it can be disabling. There are three major sub-types of localized scleroderma:

    Localized and generalized morphea - Dr Tirant can assist in the treatment of this form.

    Localized morphea presents with one or several patches of scleroderma that are reddish, inflamed and discolored. They usually present on the chest or back, but in some cases the face, arms, and legs may also be affected. The patches are oval-shaped and range in size from 1cm up to approx. 25cms in diameter. The destruction and subsequent absence of sweat glands together with very little, if any, hair growth in the areas affected is also indicative of localized morphea.

    Generalized morphea is a more severe form that is not as common as localized morphea. Extensive large, dark plaques of thick, tight skin present on the trunk, arms and legs. The plaques may be so extensive that they actually merge into each another. The plaques are usually white though some may have a distinct purple-coloured edge. Generalized morphea patients usually do not suffer from the internal life-threatening features of systemic sclerosis; however, this form is more likely to result in disfiguring scaring and permanent physical disability.

    In both , localized and generalized morphea, there is usually spontaneous improvement, typically around 3 -5 years. However, patients are often left with disfiguring patches of hyper or hypo pigmentation and, in rare cases, muscle and tendon damage.

    Linear scleroderma - Dr Tirant cannot assist in the treatment of this form.

    Linear scleroderma presents with a distinctive line or lines of thick, tight skin, usually, on the chest, stomach, arms, back, buttocks, legs, or even the face.

    It often presents in children within the first 10 years. It is not uncommon for the disease to affect the underlying bones and muscles, causing structural damage and affecting the mobility of joints. In children, especially young children, the development of affected arms or legs may be significantly impaired.

    Linear scleroderma presenting on the face is often called “ en coup de saber”, a French term for “a blow of the sword,” which aptly describes its appearance. Linear scleroderma may be extremely disfiguring and can be emotionally distressing as well as physically painful. However, it is not a life threatening condition and rarely progresses to systemic scleroderma.

    Systemic scleroderma - Dr Tirant cannot assist in the treatment of this form.

    Systemic scleroderma is also known as systemic sclerosis. It is a disease with multiple symptoms that can not only affect the skin but also underlying blood vessels, muscles, tendons and joints It also can affect the lungs, heart gastrointestinal tract and kidneys.

    There are two subsets of systemic scleroderma:
    • Limited - when skin involvement is limited to the hands ( although the face and neck may also be involved).

      and

    • diffuse - when skin involvement also occurs above the wrists/elbows, on the trunk and legs.


    Both are characterized by vascular (blood vessel) damage, severe inflammation and fibrosis – thickening and scaring of connective tissue as well as the thickening and stiffening of the lining of the air sacs of the lung.

    Systemic scleroderma results in a loss of circulation in the fingers, toes and other extremities. This often causes painful skin ulcers to develop either spontaneously or as a result of injury. Any wound heals very slowly and in severe cases this may lead to gangrene. Joint pain caused by inflammation and swelling can be chronic. Loss of flexibility in the joints of the hands and feet is further compounded by the severe tightening of the skin. The skin of the face may also tighten and harden. If this occurs around the mouth it makes it difficult for the patient to open their lips to eat and drink and if the eyes are affected, closing of the eyelids may be impaired.

    Systemic scleroderma (both limited and diffuse) is the most serious and deadly form of the disease. Breathing may be seriously impaired, scaring of the heart can cause serious heart problems and kidney failure can result if kidney function is significantly impaired.

    Approximately 90% of systemic scleroderma patients also present with Raynaud’s phenomenon as a primary symptom. This condition affects the small blood vessels of the hands and feet causing them to contract in response to either cold or stress. The hands and feet become extremely sensitive to cold and the skin will blanch from white to blue. On the return of blood flow they often become a bright red.

    It should also be noted that Raynaud’s phenomenon is quite common among the general population. However current research suggests that only 5 – 20% of people with Raynaud’s phenomenon will go on to develop a form of systemic scleroderma.

    Limited scleroderma - Dr Tirant cannot assist in the treatment of this form.

    Approximately 60% of the systemic impaired population will present with limited scleroderma. The progression of limited scleroderma is much slower than diffuse scleroderma; however it is still a very serious condition that is fatal for approximately 3% of patients.

    It is vital to treat the symptoms of limited scleroderma as early as possible and have ongoing medical monitoring for organ damage conducted regularly. As with other forms of scleroderma, loss of mobility, chronic pain, scaring and disfigurement are all possible manifestations. The esophagus and other parts of the gastrointestinal tract may be affected. Pulmonary complications may lead, in some instances, to dangerously high blood pressure.

    Systemic-limited scleroderma is often referred to as CREST, an acronym for several of the most prominent symptoms:

    C alcinosis - Painful calcium deposits in the skin

    R aynaud’s phenomenon - Blanching of feet & hands from white to red to blue in response to cold or stress

    E sophageal dysfunction - Problems with swallowing caused by internal scarring

    S clerodactyly - Tightening of the skin on the fingers and toes, progressing to the hands and feet, face and sometimes the neck

    Telangiectasia - Red spots on the hands, palms, forearms, face and lips

    Diffuse scleroderma - Dr Tirant cannot assist in the treatment of this form.


    Diffuse scleroderma presents with an early internal inflammatory phase. Unlike limited scleroderma, the onset of symptoms in diffuse scleroderma is rapid and severe. Diffuse scleroderma also presents with extensive skin fibrosis that covers large areas of the trunk, arms and legs. Depending on the type and severity of organ damage, even cases without significant skin involvement can be life-threatening. Other symptoms of diffuse scleroderma are chronic tiredness, lack of appetite, weight loss, joint swelling and pain. Changes in the skin can include swelling, tightening and generalized itchiness (pruritus).

    As with limited scleroderma there are problems with the digestive tract. The slowing down of this organ can affect chewing and swallowing, nutrient absorption and the elimination of waste products. In severe cases of diffuse scleroderma that involve damage to the lungs, kidneys renal failure, pulmonary hypertension and heart failure can result.

    Unfortunately, there is no cure for scleroderma. However stabilization may occur and the disease may even go into “remission” and lie dormant for several years. Even if this does occur there is no certainty as to whether symptoms will show any improvement during remission. The length of remission time varies between individuals and the condition can flare-up in the future.

    As with limited scleroderma it is vital to treat these symptoms as early as possible and have ongoing medical monitoring for organ damage at regular intervals.

    Sine sclerosis - Dr Tirant cannot assist in the treatment of this form.

    Sine sclerosis is a term used to describe systemic scleroderma without characteristic skin symptoms.

    Patients with sine sclerosis may present with symptoms of either limited or diffuse scleroderma which cause damage to the internal organs.

    Diagnoses of sine sclerosis may be difficult. There are usually no outward symptoms apart from the presence of Raynaud’s phenomenon.

    Complications due to damage of internal organs can be serious and often life threatening.