Scleroderma

Scleroderma (systemic sclerosis) is a chronic autoimmune disease involving multiple organs that has various presentations.

Overview

Scleroderma is a chronic autoimmune disorder that tends to progress and involve multiple organs and cause significant disability. Women are more likely to suffer from scleroderma, the disease typically manifests at the age of 40-60 years. The most characteristic feature of the disease is the thick hardened skin lesions (sсlerotic). As the disease has various presentations there is a broad classification of the scleroderma subtypes and disease severity varies greatly. Scleroderma-related disorders are divided into localized forms that affect only skin and systemic forms that also involve internal organs.

Causes

Scleroderma is an autoimmune disorder meaning that a person’s own immune system attacks the body as a result of abnormal stimulation and changes in DNA expression. Collagen (a protein that forms connective tissues) production in the body increases, it is stored in the skin and internal organs causing its fibrosis, scarring and thickening.  

SclerodermaRisk factors

  • The disease prevalence is higher in females than in males. Nonetheless, scleroderma is more severe in men;
  • Scleroderma usually occurs in people at the age of 40-60 years. However, the disorder develops somewhat earlier in individuals of African descent, moreover, blacks tend to have a worse course of the disease with widespread skin and internal organs involvement;
  • Despite the fact that scleroderma is not inherited genetic predisposition plays an important role. Therefore, a family history of scleroderma is considered also a significant risk factor;
  • Exposure to silica, welding fumes, chlorine, ketones, etc. is associated with increased risk of developing scleroderma;
  • Receiving some chemotherapeutic agents such as Bleomycin may also be a risk factor for developing scleroderma;

Localized scleroderma

  • Linear scleroderma
    Linear scleroderma develops usually in children and is characterized by the skin and subcutaneous tissue lesions appearing as longitudinal bands. The presence of the fibrous bandlike lesion on the forehead and parietal part of the scalp is referred to as en coup de sabre (as it resembles the lesion from the injury by the sabre).
  • Morphea
    Morphea is a form of scleroderma in which the patches of sclerotic skin appear on the trunk and extremities. Moreover, in the case of localized morphea, there is a limited number of lesions, whereas in generalized morphea multiple lesions occur and distribute all over the body.

Systemic sclerosis

The term “systemic sclerosis” is used to describe the systemic form of scleroderma in which internal organs are involved.

  • Diffuse cutaneous systemic sclerosis
    In diffuse cutaneous systemic sclerosis, the extensive regions of the skin are affected as are the internal organs – the kidney, heart and the lungs.
  • Limited cutaneous systemic sclerosis
    The skin lesions are observed mostly on the hands and sometimes the face and neck. This form is associated with vascular abnormalities. Formerly the term CREST syndrome (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasias) was widely used to describe it. 
  • SS sine scleroderma
    In this form of scleroderma, there is significant fibrosis of the internal organs without any skin lesions.
  • Environmentally-induced scleroderma
    Some chemicals and drugs are known to induce the development of scleroderma following exposure to these agents (such as vinyl chloride, pesticides, etc).
  • Fulminant systemic sclerosis
    In some individuals, the disease may develop extremely quickly and extensively involve multiple organs. Such course of the disorder is referred to as fulminant.

Symptoms

The most common symptoms observed in individuals with scleroderma include:

  • Fatigue;
  • Joint stiffness and pain;
  • Muscke weakness;
  • Sleep disturbances;
  • Presence of skin lesions;
  • Breathlessness;
  • Nausea;
  • Weight loss;
  • Cold sensitivity;

Reunaud phenomenon is often the first symptom of the disease, it manifests as pallor or bluish coloring of the digits developing due to stress and cold temperatures followed by redness upon warming. This phenomenon may be explained by the constriction of small vessels of the hands;

Skin lesions in scleroderma appear as patches or bands of hardened, thickened skin with preceding swelling and pruritus (though not obligatory). Affected areas may become hyper- or depigmented (“salt and pepper” appearance of the skin). Usually, the face and neck are affected, the lips get thinner with radial furrowing. Later as the disease progresses the skin atrophies, becomes dry and scaly.  These dry areas may be associated with severe itching. Ulcers may develop over the regions which sustained traumas, on the digits due to impaired blood supply.

Dilated capillaries may be seen on the skin of the face and hands; these lesions are known as telangiectasias.

Organ involvement in scleroderma

Various organs may be affected by the disease:

  • Mouth
    • Xerostomia – mouth dryness;
    • Telangiectasias on the mouth cutaneous membranes;
  • Lung involvement
    • Pulmonary artery hypertension as a result of pulmonary vascular disease;
    • Interstitial lung disease following inflammation of the alveoles;
  • Heart involvement
  • Kidney damage
    • Renal crisis in scleroderma;
  • Gastrointestinal tract
    • Gastroesophageal reflux disease;
    • Gastroparesis;
    • Decreased motility of the gut causing constipation;
  • Musculoskeletal abnormalities
    • Myositis;
    • Joint contractures;
    • Tendon friction;
  • Vascular disorders

Diagnosis

Making the diagnosis of scleroderma may be challenging due to its many faces.

  • Skin biopsy;
  • Dermatoscopy;
  • Laboratory tests such as blood tests and urinalysis;

Treatment

Unfortunately, there is no curative treatment available at the moment. Most of the drugs used in the management of systemic sclerosis are used for symptomatic relief or in order to delay the disease progression. Localized scleroderma may even resolve spontaneously.

Vasodilators such as calcium channel blockers, prazosin, and topical nitrates are recommended for Raynaud phenomenon, prostaglandins and aspirin may also be used. NSAIDs are administered to provide pain relief.

Angiotensin-converting enzyme (ACE) inhibitors use should be started when there are first signs of increased blood pressure.

Some drugs such as D-penicillamine, methotrexate, and mycophenolate mofetil were beneficial in the treatment of skin fibrosis. Sildenafil was effectively used to decrease the tension in the pulmonary artery.

Heparin and fibrinolytic are used if the blood flow is disturbed by the thrombi.

Antacids and proton pump inhibitors, prokinetic agents and laxatives are administered to treat gastrointestinal tract complications of systemic sclerosis.

Moisturizers, antihistamine drugs, and antidepressants are recommended to reduce itching.

Phototherapy with longer-wavelength ultraviolet A (UVA) light (ie, UVA1, 340-400 nm) is used for skin lesions in scleroderma.

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