Scleroderma

            Scleroderma is a condition in which the skin gradually tightens, thickens, and becomes hard; thus losing its ability to stretch.  The condition is considered a connective-tissue disorder as well as a rheumatic condition.  The disease most often affects the hands, face, and feet.  However, blood vessels can also be affected which results in restricted blood flow that can damage the body’s digestive, respiratory, and circulatory systems. 

            Scleroderma appears in various forms in different people as there are many types of the condition.  Scleroderma is classified as either localized or systemic depending on the degree to which the skin is infected.  The widespread form of the disease is considered systemic sclerosis.

            Blacks are at slightly higher risk compared to whites.  Women are three times more likely to develop the localized form of the disease than men.  In fact, more than 80% of people with systemic scleroderma are women ages 30-50.  Despite its serious implications, people with the disease normally live full lives though they may experience various degrees of discomfort and/or disability. 

            While the underlying cause of scleroderma remains unclear, the central feature of the disease is excessive production of collagen which is one of the sources from which skin is produced.  Inappropriate amounts collagen causes the skin to be supple.  However, when too much collagen accumulates it causes skin tissue to become thick and stiff, feeling almost leathery.  Recent studies have focused on the connection between the immune system, the vascular system, and the growth of connective tissue which has suggested that the disease is not hereditary. 

How is Scleroderma diagnosed?

            Scleroderma is difficult to diagnose due to the fact that the symptoms and manifestations of the disease vary greatly between individuals and may often look like other diseases.  The most common symptom is the tightening, hardening, and thickening of the skin on one’s arms, legs, hands, feet, and face.  The skin is affected gradually during the early years of scleroderma’s onset until thickening stops at which time it can even recede. 

Other symptoms of scleroderma are as follows:

• -Gradual tightening and thickening of the skin
• -Swelling, stiffness, or pain in the fingers, toes, hands, feet, or face
• -Tingling, numbness, or puffiness
• -Skin discoloration
• -Small white bumps forming under the skin’s surface
• -Sensitivity to the cold
• -Bluish or reddish tint in the hands/feet (Raynaud’s syndrome)
• -Red spots from permanently dilated tiny blood vessels (telangiectasias) on the fingers, palms, face, lips, or tongue
• -Sores/ulcers on the fingertips, knuckles, or elbows
• -Weak bones that break easily
• -Inability to stretch the skin
• -Itchiness
• -Weak muscles
• -Persistent fatigue
• -Curling of the fingers
• -Digestive problems:
  • -Heartburn
  • -difficulty swallowing/movement of food
• -Impaired muscles in the intestines
• -Loss of hand function due to the tightened skin
• -Shortness of breath
• -Hair loss
• -Weight loss
• -Irregular heartbeat

            One variation of systemic scleroderma known as CREST syndrome is recognized when five particular symptoms occur together.  These symptoms include:

• Calcinosis – painful calcium deposits in the skin
• Raynaud’s phenomenon – abnormal blood flow in the hands and feet when exposed to cold or stress
• Esophageal dysfunction – problems with swallowing caused by internal scarring
• Sclerodactyly – tightening of the skin on the fingers or toes
• Telangiectasia – red spots from permanently dilated tiny blood vessels on the hands, palms, forearms, face, and lips

            There is no one test that can directly identify scleroderma.  However, your doctors can test for scleroderma in a few ways.  One is testing antibodies in the blood, which may be positive in scleroderma although not diagnostic of the disease.  Another test used to identify the earliest signs of scleroderma is capillary microscopy, which involves examining the small blood vessels known as capillaries at the nail fold. While this test is not a definitive indicator of scleroderma, it is helpful in arriving at a diagnosis when combined with other characteristic symptoms. 

How is Scleroderma treated?

            There is no known cure for scleroderma.  Treatments for the disease aim to relieve the associated symptoms and reduce the risk of complications such as muscle and bone weakness, respiratory impairment, and/or digestive problems. 

Some helpful treatments are as follows:

• Topical skin agents – localized skin changes can be treated with moisturizers or corticosteroid medications. 

• Antibiotics – when disease is more extensive minocycline can be used to control the skin symptoms.

• Phototherapy – light therapy shows some benefit but requires further research.

• Vasodilators – medications help relax and expand the blood vessels (prescribed to relieve Raynaud’s phenomenon).

• Angiotensin converting enzyme (ACE) inhibitors – blood pressure medications can help control blood pressure and may alleviate potential kidney complications.

• Nonsteroidal anti-inflammatory drugs (NSAIDS) – aspirin, naproxen, and ibuprofen may ease joint pain.

• Antacids – indigestion can be treated with drugs to decrease stomach acidity.

• D-penicillamine – taken to decrease collagen production and delay the progress of the disease.

• Steroids – cortisone or prednisone may be used to decrease inflammation.

• Immunesuppressants – medications that suppress the immune system, like cyclophosphamide and methotrexate may help.
• Surgery – orthopedic hand or cosmetic surgery is rarely necessary to correct severe joint contractures, skin deformities, or scars.

• Lifestyle modifications – stretching and physical/occupational therapy can help keep the joints and tissues strong and flexible.  Some evidence suggests avoiding excessive amounts of vitamin C (greater than 1000mg/day).  Avoiding excessive cold and quitting smoking can also help alleviate symptoms.

How can Scleroderma be prevented?

            There is no known way to prevent scleroderma.  Many cases of scleroderma are related to occupational exposures to silica dust found in mines and stone working settings.  Solvents used in paint-thinners and removers can also trigger its onset.  Although there is no ultimate prevention for scleroderma, various measures can be taken to prevent or lessen its symptoms including:

• Dental Care – scleroderma patients often experience excessive dryness of the mouth which can lead to tooth decay.  Oral hygiene limits dental complications.

• Eye Care – excessively dry eyes may occur and can be treated with lubricating eye drops.

• Exercise – regular stretching of the muscles can help maintain flexible joints and keep your skin pliable. 

• Stress reduction – reducing anxiety can be beneficial for scleroderma patients who need to reduce muscle pain by achieving relaxation

Authors: Derek Berberian, Syracuse University, Syracuse, New York

            Marc Effron, M.D., Department of Physical Medicine and Rehabilitation, New York-Presbyterian Hospital, The University Hospital of Columbia and Cornell, New York City, New York