Introduction to Scleroderma

Types of Scleroderma

The two primary types of scleroderma are called localized scleroderma and systemic scleroderma (also known as systemic sclerosis).

Localized Scleroderma

The lesions in localized scleroderma are limited in terms of the skin areas that are affected. They usually appear spontaneously and can range from superficial to deep. The onset is gradual and the progression of the disease is slow.

There are two primary types of localized scleroderma, known as morphea scleroderma and linear scleroderma, based mostly on the pattern of skin involvement. Both types of localized scleroderma begin with a localized inflammation and progress from there.

Morphea scleroderma is characterized by patches of hard skin that may persist for years but eventually clear up. If there are 4 or more hard patches, it is considered as generalized morphea. The lesions can be multiple and can eventually affect the musculoskeletal system (bone and muscle) in the area of the lesion. The lesions are most commonly found on the torso but also appear on the legs, arms and face. Most cases of morphea scleroderma appear between the ages of 20 and 50. Plaque scleroderma involves lesions that are more superficial and are limited to the skin.

Linear scleroderma is most often found in children and adolescents below the age of 18. Some studies suggest that occurrence in children under the age of 10 accounts for 15% of all diagnosed localized linear scleroderma. The lesions appear in a band-like fashion and often tend to have a lilac color. The inflammation frequently starts in the lower limbs and can spread to the upper limbs and to the frontal part of the head and trunk.

En coup de sabre is a subtype of linear scleroderma that appears on the face or scalp, often giving a sabre (sword) scar appearance. It can range from a minor indentation on the forehead to severe atrophy of parts of the face usually involving one-half of the face.

Localized scleroderma rarely develops into systemic scleroderma and some doctors are of the opinion that they are different disease processes. Localized scleroderma often resolves on its own after 2-5 years but may also recur in some cases. Localized scleroderma does not reduce life expectancy.

Systemic Scleroderma

As the name "systemic" scleroderma implies, involvement is more extensive than in localized scleroderma and affects connective tissue in many parts of the body as well as several organs. The organs usually involved include skin, gastrointestinal tract, muscles and joints, lungs, kidneys and heart. Its severity can vary widely. Some cases progress rapidly from the initial skin thickening to the point of organ involvement while other cases may experience a slow progressive skin involvement over decades before reaching the level of organ involvement. Systemic scleroderma is very rare in children who accounts for only 5% of all diagnosed cases.

There are 2 types of systemic scleroderma that can be differentiated by the extent of skin involvement. These are known as limited systemic scleroderma and diffuse systemic scleroderma.

Limited Scleroderma

Limited scleroderma is characterized by the CREST syndrome that represents the primary physical characteristics associated with the disease. These include:

• Calcinosis - deposits of calcium crystals under the skin around the joints and organs. Skin ulcers may form over these areas.

• Raynaud 's phenomenon - caused by changes in the small arteries and capillaries resulting in constriction and a temporary disruption of circulation, usually in the extremities (fingers, toes, nose and ears). This is often the first symptom of scleroderma.

• Esophageal motility dysfunction (dysphagia) - muscles in the esophagus are unable to contract normally due to scarring. This can cause heartburn, or a sensation of food being stuck in the throat or chest. It is estimated that up to 90% of patients with scleroderma have esophageal involvement.

• Sclerodactyly (acrosclerosis) - stiffness and tightening of the skin of the fingers. Bone loss may also occur in the fingers and toes. This symptom is usually found distal to the elbows and knees and may or may not involve the face.

• Telangiectasia - dilation of the small vessels and capillaries near the skin surface, causing flat red marks on the palms of the hands, face and tongue.

Progression of limited systemic scleroderma is usually slow and the skin involvement is most often confined to the face and fingers or distal extremities but not the arms, chest or abdomen, back or thighs. The severe forms of limited systemic scleroderma can cause organ damage as well as functional and cosmetic disfigurement. Some patients slowly progress over many years, even decades, to develop serious pulmonary (lung) and gastrointestinal complications.

Diffuse Systemic Scleroderma

Diffuse systemic scleroderma is a chronic condition and is much more severe than limited systemic scleroderma. It is characterized by rapid, extensive skin fibrosis that often begins with swelling of the hand and face and then extends to proximal parts of the body, usually between the knees/elbows and the trunk, and is marked by organ involvement. Although there is variability from person to person in the progression of the disease, involvement of the lungs, gastrointestinal tract, and kidneys is usually seen early in the course of the disease. Long- standing diffuse systemic scleroderma can lead to physical deformities such as constricture of the fingers and toes and tightening of the mouth.

Systemic sclerosis sine scleroderma is a subtype of systemic scleroderma that affects the organs but not the skin. Systemic sclerosis sine scleroderma represents only about 10% of cases of diffuse systemic scleroderma.

The term "scleroderma" in this Medifocus Guidebook will be used to refer to "systemic scleroderma" unless otherwise noted.