Scleroderma is a chronic condition caused by inflammation and thinning of the skin. The cause of scleroderma is not known, researchers have found some evidence that heredity is an important factor but environmental factors also play an important role. It is important to mention that it is not uncommon for other autoimmune diseases to be found in the family of scleroderma patients. Some evidence to support the role of hereditycomes from a Choctaw study by Native Americans being a population with a high rate of scleroderma. The disease is more common in women than in men.
The usual site of disease is the skin at the tip of the elbow (olecranon area).
What is scleroderma?
Scleroderma is an autoimmune connective tissue disease.
What are these autoimmune diseases?
Autoimmune diseasesare diseases that occur when the body’s tissues are attacked with its own immune system. Scleroderma is characterized by the formation of scar tissue (fibrosis) in the skin and organs in the body. This leads to thinning and hardening of the affected area. Scleroderma when it is diffuse or affects the skin of the whole body is also called systemic sclerosis.
Whatcausesscleroderma?
The cause of scleroderma is unknown. Researchers have found some evidence that genes are an important factor, but environmental factors also seem to play a role. The result is activation of the immune system
whose cells attack the tissue so as to form tissue resembling scar tissue. There is evidence that genes are most likely to predisposeto the development of scleroderma and it is not uncommon for other autoimmune diseases to be found in the family of scleroderma patients.
How is scleroderma classified?
Scleroderma can be classified according to the degree and position of skin involvement. Thus scleroderma is classified into two major groups diffuseform and limited(limiting) form. The diffuseform of scleroderma (systemic sclerosis) involves symmetrical thinned skin of the limbs, face and torso (chest, back, abdomen or hips) that can progress rapidly to hard.
Disease of the internal organs can also appear in this form. The most commonly affected organs include the esophagus, intestines, lungs (scarring), heart, and kidneys. High blood pressure can cause unpleasant side effects.
The limiting formof scleroderma is mostly limited to the skin of the fingers and face. Skin changes and other features of the disease in this form appear much more slowlythan in the diffuse form. Due to its characteristic clinical features, the disease progresses much more slowly than the diffuse form of scleroderma.
This form of scleroderma is named after the initials of the most common components of this disease and is called the CREST form of scleroderma. This name has the following features:
C… Calcinosis refers to the formation of tiny calcium deposits in the skin. It is seen as a hard whitish area of superficial skin, and usually covers the elbows, knees, or fingers. This otherwise firm deposit can become soft, can become infected, and can disappear spontaneously or be surgically removed.
R… Raynaud’s phenomenon refers to spasm of the tiny arterial blood vessels that supply blood to the fingers, toes, nose, or ears. It is characterized by blue, whiteor redcolor of the edges after exposing the limbs to cold, heat or in emotional disorders.
E … Esophageal disease in scleroderma is characterized by poor functioning of the muscles of the lower two thirds of the esophagus (esophagus) which causes an abnormally wide esophagus that allows stomach acid to return in the form of reflux back inside the esophagus and cause heartburn, inflammation and potential scarring. This can result in difficulty in passing food from the mouth through the esophagus to the stomach.
S… Sclerodactyly is a term that refers to the localized thinningand tightnessof the skin of the fingers or toes, which can give the fingers a “shiny” and unnatural appearance. Tension can cause severe limitations in the movement of the fingers and toes. These skin changes progress much more slowly than the symptoms in patients with diffuse scleroderma.
T… Teleangiectasias are tiny red areas most commonly on the face, hands, and in the mouth behind the lips.
Patients may have variations of CREST for example, CRST, REST, ST, etc.
Can a patient with scleroderma have another disease?
Some patients have overlapping scleroderma and other connective tissue diseases such as rheumatoid arthritis, systemic lupus rheumatoides, and polymyositis. When patients have symptoms of sclerodermaand are mixed with symptoms of polymyositisand systemic lupus erythematosus, we get a disease called mixed connective tissue disease (MCTD).
Finally, skin changes in scleroderma can be localized. Morpheais a form of scleroderma localized to a limited area and is affected by hard and slightly pigmented skin. Sometimes morphea can cause multiple skin lesions. Morphea is not associated with other diseases in the body.
Linear scleroderma is scleroderma that is localized usually on the lower limbs, most often presenting as a narrow strip of hardened skin on the lower leg of a child. Linear scleroderma in children can stop the bone growth of the affected leg. Sometimes linear scleroderma is associated with a “satellite” area of a piece of localized scleroderma skin on another part of the body (e.g., the abdomen).
What are the symptoms of scleroderma?
The symptoms of scleroderma depend on the type of scleroderma and the spread to the skin and internal organs. Scleroderma can affect the skin, esophagus, blood vessels, kidneys, blood pressure and intestines, and can affect the whole body.
What are the symptoms of skin form?
Scleroderma affects the skin causing local or widespread signs of inflammation (redness, swelling, itching and pain) which in the later stages leads to thinning and hardening of the skin. These changes can spread to the toes, feet, face and neck. This can lead to a reduced degree of mobility of the fingers of the hands, feet and jaw.
Which internal organs are most commonly affected?
Scleroderma involving the esophaguscauses heartburn which is the result of the return of acid from the stomach. Sometimes this leads to scarring of the esophagus with difficulty swallowing and / or pain in the center of the chest.
Pneumoniain scleroderma can cause scarring of the lungs which causes difficulty breathing during physical exertion. Elevated pressure in the pulmonary arteries (pulmonary hypertension) can also cause shortness of breath.
Scleroderma involving thecolon (colon) most often causes frequent ״ constipation ״ and can cause cramps and diarrhea. In severe cases, complete constipation can occur.
The most commonly affected blood vessels are the tiny arterioles of the fingers and toes and sometimes the nose or eyes. These veins, if exposed to cold, become pale, fade and red. These changes are called the Rayno phenomenon. If the blood vessels of the face and nose are affected, telangiectasiasoccur.
Telangiectasias
Damage to blood vessels can lead to high blood pressure which can cause kidney damage, headaches, and in the worst case stroke.
What are the consequences of the Rayno phenomenon?
Rayno’s phenomenon can cause inadequate oxygen delivery to affected affected fingers or toes, causing tiny ulcerations or black skin. Sometimes Raynaud’s phenomenon causes paraesthesia, ie. inadequate sense of touch
How is scleroderma diagnosed?
The diagnosis of scleroderma syndrome is based on the clinical picture. A large number of patients with scleroderma have blood tests that suggest autoimmunity, antinuclear antibodies (ANAs). Anticentromericantibodies have been found mainly in the CREST form of scleroderma. Anti-Scl 70 antibodies (antitopoisomerase and antibody) are most commonly seen in patients with the diffuse form of scleroderma.
Other tests can be used to assess the presence or association of some internal diseases.
How is scleroderma treated?
Treatment of scleroderma is individual and depends on the involvement of different areas of the body.
Aggressive treatment of high blood pressure is very important in preventing kidney damage. In its treatment, drugs such as e.g. captopril.
Recent evidence suggests that the cytostatic colchicinemay be useful in reducing inflammation and reducing the number of calcinous nodules in the skin. Skin itching can be soothed with lotions (emolliens) such as Eucerin and Lubriderm.
Mild Raynaud’s phenomenon can only require protection of the hands from sudden temperature changes. A low dose of aspirinis usually given to prevent small blood clots in the fingers, especially in patients with finger ulcers. Rayno’s phenomenon can be treated with drugs that open arteries such as nifedipine (Procardia, Adalat) and nicardipine(Cardene) or with topical nitroglycerin applied to the fingers.
A type of medication commonly used for depression called serotonin, inhibitors such as fluoxetine(Prozac) can sometimes improve the circulation of the affected fingers. A more serious form of Raynaud’s phenomenon may require surgicalprocedures that interrupt the nerves of the fingers that stimulate blood vessel contraction (digital sympathectomy). Finger ulcers require topical or oral antibiotics. Esophageal and heartburn irritation may be reduced with omeprazole(Prilosec), esomeprazole(Nexium) or lansoprazole (Prevacid). Antacidscan also be helpful. Raising the head to the bed can reduce the return of acid to the esophagus that causes inflammation and heartburn. Avoiding caffeine and cigarette smoking also helps.
Constipation, cramping and diarrhea are sometimes caused by bacteria that can be treated with tetracyclineor erythromycin. Taking fluids and foods with “fiber” are good general measures.
Irritated, hardened skin can be helped by applying neutral and emollient creams.
Telangiectasiassuch as those on the face can be treated with laser therapy. Sun exposure should be kept to a minimum.
Approximately 10% of patients with the CREST variant develop increased pressure in the blood vessels of the lungs (pulmonary hypertension). Abnormally increased arterial blood pressure is treated with calcium antagonist drugs such as nifedipineand blood-thinning drugs (anticoagulants).
Drugs that suppress the overactive immune system most likely to cause disease in the affected organs are used directly for treatment. Drugs used for this purpose include penicillamine, azathioprineand methotrexate. Recent research has found that low doses of penicillamine (Depen, Cuprimine) (125mg every other day) is just as effective as previous use of high doses of penicillamine, while causing less toxicity.
Severe pneumonia(alveolitis) may require immune suppression with cyclophosphamide (Cytoxan) prolonged with prednisone. The optimal treatment for scleroderma lung disease is in the area of active research. Stem cell transplantation has been scientifically tested as a possible option.
No drug has been found to be universally effective for all patients with scleroderma. In some patients, the disease may be mild and may not require treatment.
What is the prognosis for patients with scleroderma?
The prognosis is optimized with regular monitoring of the overall health condition and treatment of complications, especially high blood pressure. Recent data show that the critical period of organ complications is within the first three years after the first onset of skin symptoms. This means that patients can be sure that significant complications will occur only three years after the appearance of the first symptoms on the skin.
Today, scleoderma continues to confuse medical scientists. Scientists have estimated that thalidomideis effective in treating scleroderma. Psoralen and ultraviolet light therapy (PUVA) are used to treat cutaneous localized scleroderma (Morphee).
Many researchers are investigating cell messengers called cytokinesas a possible cause of scleroderma.
Keywords: Scleroderma, diffuse form, limiting form, linear form, Morphea, antinuclear antibodies, PUVA therapy,
Scleroderma in brief:
• Scleroderma is a skin disease that is often associated with internal organ disease.
• Scleroderma is classified into diffuse and limited form
• CREST syndrome is a limited form of scleroderma
• Patients with skeroderma may have antibodies in their blood that show autoimmunity.
• Treatment of scleroderma includes treatment of skin changes and treatment of complications
Interesting facts: Researchers are studying a pregnancy hormone called relaxinto treat scleroderma. Initial results say it can relieve skin tightness in scleroderma. Relaxin normally relaxes the pelvic ligaments and stimulates uterine maturation for childbirth. How it does this in scleroderma is not clear.
For My doctor: Perica Ante, MD dermatovenerologist
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