Scleroderma, which literally means ‘hard skin’, comprises a host of diseases set in motion by the abnormal growth in the connective tissue that supports the skin and internal organs. The condition sometimes limits its consequences to the growth of hard, tight skin in one area of the body but its effects can go much deeper, affecting blood vessels and a number of internal organs, including the lungs, heart and kidneys.

The exact causes of scleroderma are unknown; it is generally classified as an auto-immune disease which stimulates fibroblasts in skin cells to produce excess collagen, though genetics, environmental factors and hormones also seem to play a part. Scleroderma usually appears between the ages of 20 and 40 (though even children can contract the disease). Female patients outnumber male patients by approximately 4:1.

• Morphea: This condition tends to first manifest itself as one or various thick, red, oval-shaped patches, ranging in diameter from around half an inch to 12 inches. The centre of the patch eventually develops a cream tone and purple borders. The patches most often appear on the back, chest and stomach, though they can also affect the legs, arms and face. Morphea generally disappears in three to five years.
  
  
• Linear Scleroderma: This condition appears as a line of thickened or discoloured skin, normally on an arm, leg or on the forehead.

• Limited Cutaneous Scleroderma: This condition usually appears gradually and affects the skin in the fingers, hands, face, legs and lower arms. It involves the following symptoms (referred to as CREST):
  
  i) Calcinosis: Calcium deposits form in the connective tissues in the fingers, hands, face, thorax, and above the elbows and knees. These can appear as white spots or ulcerations.
  
  ii) Raynaud’s disease: In Raynaud’s disease, blood vessels in hands and feet contract in a response to cold or anxiety, turning white then blue. Ulcers, scars and even gangrene can form on fingertips. Patients usually suffer from Raynaud’s for months or years before skin begins to thicken.
  
  iii) Esophageal Dysfunction: Swallowing can be difficult. When the lower oesophagus is affected, heartburn can ensue.
  
  iv) Sclerodactyly: The skin on fingers thickens and tightens. This can make it difficult to bend the fingers.
  
  v) Telangiectasia: Tiny red spots appear on the hands and face owing to swollen blood vessels.
  
  
• Diffuse Cutaneous Scleroderma: This condition appears suddenly, commencing with the thickening of skin in the hands and spreading to the rest of the body in symmetrical fashion. Affected skin often looks tight and shiny. Symptoms include loss of appetite, tiredness and joint pain. Within three to five years, symptoms often subside, though the damage done to internal organs is not reversed. Less than one third of patients develop severe organ damage.
  
  
• Systemic Scleroderma Sine: Patients have manifestations of systemic scleroderma, without the thickening of skin.

A diagnosis is usually based on a physical exam and tests for antibodies. Not all patients present the relevant antibodies so diagnosis can take years. Sometimes skin biopsies are taken, though the results don’t distinguish between the localised and systemic forms of the disease.

Treatment focuses on managing symptoms and limiting complications. Those with Raynaud’s disease may be prescribed calcium channel blockers to improve circulation; painful joints are often treated with anti-inflammatories; dry skin is treated with oil-based creams; pulmonary fibrosis is treated with corticosteroids and pulmonary hypertension with blood vessel dilators; kidney problems with ACE inhibitors; cardiovascular conditions are also treated with medication though sometimes, surgery is indicated.

Since scleroderma affects so many of the body’s vital organs and systems, patients should strive to stay informed with the latest reading material; medical textbooks often make a good starting point because their target readers are beginners rather than specialists. Patients dealing with gastro-intestinal issues will benefit from reading up on nutrition; those needing oral surgery will find useful information in oral and maxillofacial books, while psychology books can open up a whole new world to patients struggling with issues like self-esteem.

It can be frustrating to find that previously simple tasks, like opening a door, using cutlery or grooming oneself, are now painful and laborious. Rather than succumb to depression, patients should arm themselves with the power of knowledge and formulate a step-by-step plan to ensure that symptoms are kept to a minimum and the disease does not progress.

Positive lifestyle changes can go a long way towards relieving symptoms. Exercise improves joint function and increases muscular strength and flexibility and stimulates blood circulation to affected areas; occupational therapy teaches patients how to perform routine motions with less stress on affected joints; regular dental check-ups can prevent tooth decay and loss; gastrointestinal problems can be avoided by eating small, frequent meals and avoiding spicy and fatty foods, alcohol and caffeine. Psychological help can also be useful, since scleroderma can affect family and work relationships, and even a patient’s sex life (men may have difficulties achieving an erection while women may have issues with lubrication).

Alternative treatments include supplementing the diet with Vitamin E and D and avocado and soybean extract. Although these treatments improved only cutaneous manifestations of the disease, treatment using PABA (Para-aminobenzoic acid) have had positive effects on the internal pathology of patients, reducing long-term morbidity and mortality. Experiments are also being conducted with Yohimbine Hydrochloride for Raynaud’s disease, plasmapheresis for cutaneous scleroderma and long-term antibiotic use for the condition as a whole.