What is Localized Scleroderma?

Scleroderma is a disorder with an unknown cause. It is characterized by thickening of the skin due to extra tissue being deposited within it. The excess tissue is called connective tissue, connective tissue is the framework which keeps much of the body together. Scleroderma is a group of conditions that are linked by the changes in the skin, however there are many other effects of the disease, and as a result it is classified into a variety of distinct conditions depending on the pattern of disease.
Classification of Scleroderma
Scleroderma is classified broadly into two categories:

  • Localized Scleroderma : This condition is usually localized to the skin and its underlying tissues, it rarely progresses systemically
  • Systemic Sclerosis : In this condition there is skin and/or organ involvement that is more severe and widespread than the localized form of the condition.

Localized scleroderma is classified into the following categories:

  • Localized cutaneous sclerosis
    • Morphea
      • Plaque-type morphea
      • Guttate morphea
      • Subcutaneous morphea or morphea profundus
      • Nodular or keloidal morphea
      • Atrophoderma of Pasini and Plerini
      • Bullous and vesicular
    • Linear Scleroderma
      • Craniofacial
        • En coup de sabre
        • With cranial atrophy
      • Acral
      • With arthritis, myositis and growth defects of bone
      • Linear meiorheostotic
    • Generalised Morphea
      • Pansclerotic
      • Edematous
      • With lichen sclerosis et atrophicans
  • Localized Cutaneous Sclerosis as a part of an overlap syndrome
    • Mixed connective tissue disease
    • Undifferentiated connective tissue disease
    • Sclerodermatomyositis
  • Cutaneous sclerosis as a component of eosinophilic fasciitis

Statistics

Localized scleroderma is an uncommon condition, and affects approximately 20 people in every million. Although uncommon, localized scleroderma occurs approximately 20 times more often than systemic sclerosis. Both the incidence of morphea and linear scleroderma are more common in females, with the male to female ratio being approximately 3 to 4: 1. Plaque morphea is the most common form of localized scleroderma. However in childhood linear scleroderma is the most common.

Risk Factors

Risk Factors 5

  • Other autoimmune disease e.g. Hashimoto’s Thyroiditis, vitiligo & type 1 diabetes mellitus
  • Family history of autoimmune disease (diseases where the immune system attacks the body)
  • History of trauma, which is seen in 3 to 13% of patients with localized scleroderma
  • Drugs and environmental toxins e.g. bleomycin
  • Infections e.g. Borrelia Burgdorferi (this has yet to be proven)

Progression

Pathogenesis
The reason why localized scleroderma occurs is still relatively unknown. However it is known that the condition develops due to abnormalities in connective tissue as well as the immune system and blood vessels. Early on in the disease there is damage to the blood vessels and release of certain molecules that stimulate cells called fibroblasts (connective tissue producing cells) to produce more connective tissue. There are also increased numbers of inflammatory cells that cause damage to the tissue.
Clinical Features
Morphea

Plaque Morphea

In this condition there is reddening of the skin with scwelling. As the disease goes on the skin turns white and sunken. It most commonly occurs on the trunk but can also occur on the extremities. The size of the lesions rages from 0.5cm to 30cm. Later in the disease the lesions may become overly pigmented or stay underpigmented. In lesions that are progressing a surrounding area of redness is seen called the ‘lilac ring’. There is rarely ever internal organ involvement.
Guttate Morphea
This condition usually produces multiple and small ‘confetti’ like lesions, 2 to 10mm in diameter. The lesions are under-pigmented or over-pigmented spots with a thin overlying skin. This condition frequently involves the shoulders and the chest.

Morphea Profundus

In this condition the skin becomes thickened and tighter. The skin loses it colour and becomes sunken in.
Nodular (Keloidal) Scleroderma
This condition most commonly involves the chest and appears as distinct papules (small areas of elevated skin) or plaques (large areas of elevated skin). They are difficult to distinguish from keloids (an abnormally aggressive healing response). These lesions can be many centimeters in diameter, there may be single or multiple lesions.

Bullous Morphea

The formation of bullae (fluid filled lesions) can occur in most types of localized scleroderma. Common sites where the lesions can appear are on the extremities, trunk, face, or neck. These lesions may be superficial or extend deep into the skin. It is postulated that the bullae form in response to trauma or lymphatic obstruction.

Vesicular Morphea

In localized scleroderma vesicles (smaller fluid filled lesions) can develop, these are most often seen on the arms.
Atrophoderma of Pasini and Pierini
Lesions in this condition are described as being depressed, over-pigmented areas of skin, usually on the trunk, with a ‘cliffdrop’ border. This condition can occur alone or with other forms of localized scleroderma.
Linear Scleroderma
Lesions form straight bands on the skin causing the skin harden & change pigmentation. The pattern of the lesions tends to be horizontal on the trunk of the body and longitudinal when seen on the arms and legs. This condition can spread and cause destruction of the underlying bone and muscle. These lesions are usually present on the limbs, face and scalp of patients. In 10 to 22% of cases of linear scleroderma there is shortening of the affected limbs due to impaired growth. There are many complications of linear scleroderma, these can include the following:

  • Tissue destruction that can involve: soft tissue, muscle, bone and sometimes the lining of joints.
  • Defects in growth in different areas of the limb
  • Deformities of the limb
  • Involvement of the skin surrounding the mouth and spread of lesions into the oral cavity causing severe dental problems such as the premature loss of primary teeth, eruption of the permanent teeth and reduced growth of bone.

En Coup De Sabre

This form of linear scleroderma describes lesions that resemble a scar from a sabre blow to the head. These lesions appear on the patients face and/or scalp, usually on one side, with accompanied loss of the hair in affected areas. The lesions are ivory in colour and have a depressed appearance. These lesions last for decades.
Generalised Morphea
In this form of localized scleroderma the lesions may gather in a single area or involve three or more areas. Common sites where these lesions are seen are on the trunk and the legs. Occasionally the acral (fingers, toes and ears) areas of the patient’s body are spared. This condition can cause deep involvement of tissues causing disfigurement.

Symptoms

The doctor will ask their patients about the following symptoms.

  • Itching
  • Pain
  • Weakness
  • Headache
  • Fever
  • Seizures etc.

The doctor will also ask you a bit about you past history, paying special attention to:

  • Other autoimmune disease e.g. Hashimoto’s thyroiditis, vitiligo & type 1 diabetes
  • Family history of autoimmune disease
  • History of trauma, which is seen in 3 to 13% of patients with localized scleroderma
  • Drugs and environmental toxins e.g. bleomycin, bromocriptine, pentazocine, carbidopa and vitamin K.
  • Infections e.g. Borrelia Burgdorferi (this has yet to be proven)

There are some other rarer symptoms that your doctor might ask about, these include:

  • Arthritis (19%)
  • Neurological symptoms <4%> like headaches and seizures
  • Eye disease (2%) : dry eye
  • Gastrointestinal findings (2%) especially reflux
  • Lung disease (1%) : shortness of breath and other pulmonary symptoms.

Clinical Examination

The doctor will examine the following thing in a patient with localized scleroderma:

  • Record the size, shape, pattern, colour, location and distribution of the lesions.
  • Look for a characteristic ‘lilac ring’
  • Note any hair loss especially with lesions on the face and scalp.
  • Assess the patient’s muscle and neurological function.
  • Note the presence of any new or undetected lesions.
  • Regular monitoring and charting of new lesions

How is it Diagnosed

Some specific investigations are available for use in localized scleroderma, examples of these are as follows:

  • Autoantibodies : There are certain proteins that target structures in the patients body that can be detected in patients with localized scleroderma. These antibodies correlate with the extent of disease.
  • Markers of inflammation : Such as ESR (Erythrocyte Sedimentation Rate) and CRP (Cross-Reacting Protein) can be elevated in certain forms of the disease indicating that there is inflammation occurring.
  • Rheumatoid Factor : Elevated levels of this are usually found in patients suffering arthritis.
  • Thermography : This technique is used to measure the amount of infrared energy (heat) radiating from the patients body to correlate this with disease activity.
  • Ultrasonography : This is a useful investigation for the assessment of plaque morphea and other forms of localized scleroderma.

Prognosis

In localized scleroderma remission is common, in addition there is a very low chance that internal organ disease will occur. Existing data illustrates that there is a 50% chance of the lesions softening or remitting withing 3.8 years. In the plaque subtype of the disease the average duration of disease before spontaneous remission is 2.7 years. In the deep forms of the disease the average time before remission is 5.5 years.

Treatment

Topical therapy
Application of a topical steroid over areas inflammation is appropriate where there are localized plaque-like lesions present. The delivery of the steroid can be improved by using a steroid dressing. Injections of steroids into the margins of the lesion can slow the disease progression. Daily application of a good mosturiser to the skin can also be helpful.
Physical therapy
This is especially important in patients suffering from linear scleroderma or generalized morphea. Physical therapy helps to maintain the health of the joint by preventing complications such as joint contractures and deformities, while also helping to improve mobility of the joint and strength of the surrounding muscles. Other useful techniques include massaging of the deep connective tissue as well as the use of splints where appropriate to ensure that the joints do not become deformed.
Pharmacological therapy
For a single lesion no therapy is usually needed since the condition usually spontaneously remits over a period of a few years. The use of drugs to control disease is usually reserved for those cases where there is a high risk of disability. Examples of these situations are: deep morphea, linear scleroderma and generalized morphea.
Generally methotrexate is the treatment of choice, however there are many other drugs that have been used in the treatment of this condition. Methotrexate is combined with corticosteroids as an adjunct during the first 2 or 3 months of therapy.
Other drugs that have been used in the treatment of localized scleroderma include:

  • D penicillamine: there is no evidence that shows that this drug is effective
  • Interferon : has some efficacy in preventing new lesions but not in treating existing ones.
  • Vitamin D: there is some debate about its efficacy, however it is unlikely to be of use.
  • Photochemotherapy : UVA (ultraviolet light) with psoralen is more effective for localized or superficial lesions.

References

  1. Denton C.P ‘Uptodate : Classification of Scleroderma’ [online], Uptodate, 2006, Available at URL: http://www.uptodate.com (last accessed 12/06/2006)
  2. ‘Harrisons Chapter 303 – Systemic Sclerosis (Scleroderma) and Related Disorders’ [online], McGraw Hill’s AccessMedicine, Available at URL http://www.accessmedicine.com (last accessed 12/06/2006)
  3. Hunzelmann N. et.al. ‘Management of Localized Scleroderma’, Seminars in Cutaneous Medicine and Surgery, 1998, vol. 17, no. 1, pp. 34-40.
  4. Talley NJ & O’Connor S. Clinical Examination : A systematic guide to physical diagnosis. 4th ed. Sydney. MacLennan & Petty. 2001
  5. Tuffanelli. DL ‘Localized Scleroderma’, Seminars in Cutaneous Medicine and Surgery, 1998, vol. 17, no. 1, pp. 27-33.
  6. Zulian F. ‘Uptodate : Localized Scleroderma in Childhood’ [online], Uptodate, 2006, Available at URL: http://www.uptodate.com (last accessed 30/06/2006)