Scleroderma is a disease from the group of systemic connective tissue diseases, which is characterized by microcirculation disorders, inflammation, fibrosis. Patients have dense swelling and induration of the skin of the face, fingers, sometimes hands, feet, trunk. Fingers lose mobility, joint contractures develop, the face acquires a mask-like appearance. With the systemic nature of the pathological process, in addition to the skin, internal organs are affected with the formation of multiple organ failure. Diagnostics is based on examination data, laboratory and instrumental tests. Treatment involves the appointment of drugs that slow down fibrosis and trophic disorders.
L94.1 Linear scleroderma
The first mention of the disease dates back to 1643. The term “scleroderma”, which literally translates as “hard skin”, appeared in 1847. A characteristic description of Raynaud’s syndrome of skin coloration and finger temperature was made in 1862. The prevalence of pathology in European countries is about 250 cases per 1 million population. The debut is possible at any age, but most often the pathology is diagnosed in the age range of 30-60 years. 75% of the total number of adult cases are female patients aged 55-60 years. Cases of scleroderma development in newborns are described.
To date, researchers have not been able to identify individual significant causal factors of the development of the disease. It is believed that the pathology is based on a combination of a number of adverse external and internal influences. Specialists in the field of rheumatology identify the following main causes of scleroderma:
- Genetic predisposition. Family cases of the disease are described in the scientific literature. The patients were found to have an unstable chromosome structure, the presence of certain genes of the main histocompatibility complex, which lead to the development of specific antibodies to connective tissue elements, cells of the inner lining of blood vessels.
- Physical, chemical effects. Violations can be caused by prolonged exposure to vibration, low temperatures. Chemical compounds that enter the human body with food, in contact with household chemicals, toxic substances in production have a negative impact.
- Defects in the immune response. Episodes of the development of focal scleroderma after the introduction of vaccines and serums, blood transfusion and its individual components, acute infectious diseases (tuberculosis, scarlet fever, erysipelas, diphtheria) are described. In response to the penetration of foreign agents, aggressive autoantibodies begin to be synthesized.
The main links in the pathogenesis of scleroderma are disorders in the immune system, excessive development of connective tissue, progressive circulatory disorders. The synthesis of interleukins is activated in the tissues, the accumulation of antibodies to connective tissue cells and vascular intima occurs. Damage provokes the development of mucoid swelling of the inner lining of blood vessels, active division of smooth muscle cells, slowing of blood flow, thrombosis.
Circulatory disorders are the cause of progressive tissue ischemia. Activated mast cells in the dermis produce histamine and transformed growth factor, there is an active proliferation of fibroblasts, excessive collagen synthesis. The rapid growth of connective tissue is the cause of fibrosis. Due to the replacement of the parenchyma of organs with scar tissue, organ failure develops.
The signs of the disease are diverse. They are combined into separate syndromes: cutaneous, musculoskeletal, visceral. The nature of the course of the disease, the list of organs involved in the inflammatory process, the presence of complications determine the patient’s condition, effective treatment, prognosis for the patient’s life. There are two main forms of scleroderma:
- Limited (localized). It is characterized by the appearance of foci of sclerosis and inflammation in the skin, underlying tissues without involving internal organs.
- System. A polysyndromic disease develops with typical vasospastic disorders, lesions of the skin, musculoskeletal system, and internal organs.
Focal scleroderma differs from systemic scleroderma by the characteristic appearance of skin elements (papules, spots), a milder and longer course, has little effect on the patient’s life expectancy. Signs of localized scleroderma appear against the background of complete health and do not violate the well-being of the patient. In the systemic form, the initial manifestations of the disease are nonspecific in nature: for no apparent reason, the temperature rises, the body weight decreases.
95% of patients have Raynaud’s syndrome (chills syndrome), in which, under the influence of low temperature, strong emotions or spontaneously, successive whiteness, cyanosis, redness of the skin of the fingers of the extremities occurs. Raynaud’s syndrome may be the only manifestation of the disease for a long time. Signs of skin and organ disorders, as a rule, appear years after the onset of symptoms of chills.
The skin lesion goes through the stages of dense edema, induration and atrophy. The predominant localization of foci is the face, hands. The skin on the face thickens and tightens, pouch-like wrinkles appear around the mouth. A person gradually loses the ability to express emotions through facial expressions, the face takes the form of a fixed mask. The progression of sclerodactyly leads to limited mobility of the fingers.
Sclerodermic changes develop simultaneously with trophic disorders. The patient’s nails become deformed, thin and brittle, hair on the head and body falls out, ulceration areas and ulcers form. Signs of prolonged tissue ischemia are ulcers of the “rat bite” type on the fingertips, skin necrosis, osteolysis of the nail phalanges, which is manifested by shortening of the fingers.
Vascular spasm causes the occurrence of migraine-like headaches. In the systemic process, microcirculation disorders are observed in internal organs: liver, kidneys, lungs, heart muscle. Ischemia of the organs provokes a progressive violation of their functions, which is accompanied by typical symptoms: a decrease in exercise tolerance with damage to the heart valves, shortness of breath with respiratory failure, etc.
Articular syndrome with systemic connective tissue damage is manifested by polyarthralgia, periarthritis with the formation of contractures. Often the inflammation spreads to the skeletal muscles, myositis develops. Characteristic signs of the disease in the area of the joints of the fingers are calcifications, which are opened with the release of a tiny white mass outside.
In 70% of patients with systemic lesions, involvement of the respiratory organs in the pathological process is diagnosed. Signs of myocardial damage are present in 85% of patients with systemic scleroderma. In 30% of cases, chronic heart failure becomes the cause of death. The development of a true sclerodermic kidney leads to renal failure.
The probability of complications in localized scleroderma is relatively small, determined by the type of pathological process. Neurological and ophthalmological complications are found in patients with Parry-Romberg hemiatrophy. Rough joint contractures in pansclerotic focal scleroderma disrupt limb mobility and lead to disability.
The defeat of almost all organs and systems in scleroderma forces the rheumatologist to use the entire list of instrumental and laboratory tests available in the clinic. For diagnosis, differential diagnosis of scleroderma with diseases of the scleroderma group, determination of the stage of the pathological process is used:
- The skin account of Rodnan. The degree of induration when trying to gather the skin into a fold varies from minimal to pronounced, in which the skin has a plank-like density. Periodically repeating the test, the rheumatologist can assess the dynamics of the disease, adjust the treatment.
- Laboratory tests. In favor of scleroderma, the presence of anticentromeric antibodies, antibodies to topoisomerase in the blood serum indicates. Changes in the biochemical analysis of blood allow us to judge the preservation of liver and kidney function. The indicators of the general analysis indicate the activity of the inflammatory process.
- Instrumental research. X-rays of the hands and feet visualize calcifications, which are an important diagnostic sign of pathology. To detect changes in the myocardium, the defeat of the valves makes it possible to ultrasound the heart. Fibrosis in the kidneys, lungs, liver is noticeable on radiographs obtained during CT or MRI.
- Functional tests. The degree of disruption of the respiratory system makes it possible to establish spirography. Reduced exercise tolerance in pancreatitis is detected by the results of a treadmill test or a 6-minute walk test.
- Examination of skin biopsies. Microscopic examination of the samples is performed in order to conduct a differential diagnosis of scleroderma. The foci of necrosis in the obtained samples indicate a systemic diffuse form of the disease, which is characterized by a rapid course.
Research on the creation of drugs for the treatment of autoimmune diseases has not yet been crowned with success. Scleroderma therapy is carried out using drugs that slow down the process of tissue fibrosis, improve microcirculation, and reduce the severity of inflammation. The effectiveness of treatment is largely determined by the clinical form of the underlying disease, the presence of concomitant pathology, and the patient’s adherence to treatment.
Therapy of localized and systemic forms is carried out using the same groups of drugs. Signs of complications from the internal organs require symptomatic treatment aimed at correcting impaired body functions. Therapeutic treatment of scleroderma includes the use of the following groups of drugs:
- Antifibrotic agents. D-penicillamine is the drug of choice in patients with fibrosis of internal organs, diffuse skin induration, a rapidly progressive form of scleroderma. The drug suppresses the activity of fibroblasts, prevents the synthesis of an excessive amount of connective tissue fibers. Treatment is carried out for a long time.
- Anti-inflammatory drugs. Fever, muscle and joint syndromes are indications for the appointment of nonsteroidal anti-inflammatory drugs. To increase the effect, glucocorticosteroids can be used in short courses. In case of lung damage, hormone treatment is prolonged.
- Vasodilators and disaggregants. Calcium channel blockers have an arterial vasodilating effect, which allows them to be successfully used in patients with pulmonary hypertension. To reduce the signs of chills, it is possible to infuse disaggregants. Course treatment is prescribed as needed.
- Enzymes. Patients with contractures and widespread soft tissue induration are indicated for treatment with hyaluronidase. The methods of administration are determined by the tasks facing the doctor. Intramuscular and subcutaneous injections, electrophoresis and application of the drug to the skin in the affected joints are performed.
The operation is considered appropriate in cases where the possibilities of conservative treatment have been exhausted, but their effect has been unsatisfactory. Any surgical intervention requires preparation, since a violation of the function of internal organs can lead to the development of postoperative complications. The main operations performed in scleroderma include:
- Sympathectomy. The intersection of nerve trunks responsible for vascular tone of the upper extremities is shown in cases of complicated course of Raynaud’s syndrome. It is prescribed to patients who, against the background of trophic disorders, have long-term non-healing foci of necrosis, ulcers.
- Surgical removal of contractures. The violation of limb mobility is caused by the proliferation of scar tissue in the area of large joints. During the intervention, the surgeon removes fibrous growths, which provides the patient with freedom of movement, self-care ability, and ability to work.
- Plastic surgery. Pathological foci on the face and exposed areas of the body are a noticeable cosmetic disadvantage, the cause of asymmetry. After removal of such foci, the resulting defects are closed with displaced skin flaps.
In scleroderma, effects that restore microcirculation and metabolic processes in tissues are shown. The choice of suitable physiotherapeutic procedures is determined by the existing signs of the disease, the therapeutic or surgical treatment carried out, and its effectiveness. Patients with scleroderma are prescribed repeated courses:
- PUVA therapy sessions. UV irradiation of the skin after preliminary administration of photosensitizing drugs allows to reduce the density of the induced areas. Medications that increase the sensitivity of the skin to ultraviolet radiation are taken orally or applied locally to the skin.
- Low-intensity laser irradiation of blood. The technique involves the simultaneous use of laser radiation and the drug ridostin, which is administered intramuscularly. It is used in the complex treatment of patients, contributes to the normalization of basic immunological parameters, reducing intoxication.
Prevention and prognosis
The prognosis for recovery and life is determined by the form of scleroderma. Focal skin signs do not cause discomfort and do not affect the well-being of the patient, they respond well to treatment. The five-year survival rate of patients with systemic scleroderma is from 30 to 70%, and therapy can only slow down the progression of the disease and alleviate the patient’s condition.
The etiology of scleroderma is a subject of debate, therefore, methods of preventing the disease have not been developed. To reduce the likelihood of developing pathology, it is possible to reduce the harmful effects of the external environment: the rejection of harmful habits, the change of work associated with occupational hazards, the cessation of uncontrolled use of medicines.