The problem of diagnosing systemic scleroderma is that specific markers of the disease are often absent, but the disease progresses rapidly. For the correct diagnosis, the correct collection of anamnesis, the use of diagnostic criteria for early and differential diagnosis is important.
Systemic scleroderma (SS) is a severe systemic connective tissue disease characterized by generalized degenerative-dystrophic changes in connective tissue with a peculiar lesion of the skin, musculoskeletal system, and internal organs. This disease is common throughout the world. The average incidence is 12-14 cases per 1 million population. People usually fall ill at the age of 30-40 years, women get sick 4-8 times more often than men.
The etiology of SJS has not been fully elucidated. The development of the disease may be due to a genetic predisposition in combination with the impact of adverse exogenous and endogenous factors. Repeated attempts have been made to link the occurrence of SJS with various provoking factors, such as infection, chemical agents, stress, neuroendocrine changes, trauma, vibration, cooling, etc.
SJS is characterized by general symptoms of the disease. The main diagnostic criterion for SJS is a characteristic skin lesion. Skin changes are observed mainly on the face and hands. The face becomes mask-like and amimic with a narrow oral fissure, around which there are deep wrinkles in the form of a pouch. The fingers are covered with dense, shiny skin, which, combined with severe deformity and stiffness, creates a picture of sclerodactyly. Sometimes calcium deposits are detected in the subcutaneous tissue and periarticular tissues, and the skin in these areas undergoes cracking, followed by depletion of calcifying material.
At the preliminary stage of diagnosis, the triad of initial signs of the disease is of particular importance: Raynaud's syndrome, characteristic skin lesions, articular syndrome. In the future, numerous organs and tissues are involved in the process. Depending on the clinical and laboratory parameters, three degrees of activity are distinguished.
Significant assistance in the diagnosis of the disease is provided by a morphological study of biopsy specimens of the skin, synovial membrane and muscles, which reveals fibrous tissue transformation, vascular pathology and other changes, however, the clinical symptomatology of the disease remains decisive in establishing the diagnosis.
As an example of a hard-to-diagnose SJS, we present a clinical case.
Patient K., 37 years old, was admitted to the rheumatology department of the Luhansk city clinical multidisciplinary hospital with complaints of pain in the right shoulder joint, rashes like "marbling" on the thighs, trunk, numbness, chilliness, discoloration of the skin when exposed to cold loads , thickening of the skin of the trunk, upper limbs, hands, a feeling of tightness of the skin in the face.
The patient has been ill for three years. The disease began with the appearance of rashes like papules in the forehead, ears, and neck. A dermatologist diagnosed Divergie's disease (a skin disease that develops as a result of a violation of keratinization and manifests itself as multiple small follicular keratinizing papules, one of the forms of keratosis). In the winter of 2009, rashes appeared on the skin in the form of marbling. Since the summer of 2010, skin thickening gradually spread from the upper extremities with transitions to the face, ears, neck, chest, hands, and abdomen. Over the past 2 years, he was observed and treated at the Regional Dermatovenerological Dispensary with slight improvement. Due to doubts about the correctness of the diagnosis and to determine the tactics of treatment, the patient was hospitalized in the city rheumatology department.
At admission, the general condition of moderate severity. Skin with areas of hyperpigmentation with livedo. The skin of the thighs, trunk, back is more compacted than the anterior abdominal wall. Acrocyanosis was found on the fingers. The skin over the joints is not changed, the range of motion is preserved, with active movements there is pain in the right shoulder joint. Peripheral lymph nodes are not enlarged. In the lungs, vesicular breathing, no wheezing. The heart sounds are muffled, the rhythm is correct, the pulse is 72 beats / min, blood pressure is 110/80 mm Hg. Art. The abdomen is soft, painless, the liver is not enlarged. Urination is free, painless, Pasternatsky's symptom is negative on both sides.
Based on the patient's complaints, the history of the disease, the results of an objective study at the preliminary stage of diagnosis, a number of syndromes can be distinguished:
- skin lesion syndrome (edema, induration, hyperpigmentation, livedo reticularis),
- vascular disorders syndrome (Raynaud),
- articular syndrome,
- taking into account the diagnostic criteria for SJS (American Rheumatological Association, 1980) - the manifestation of Raynaud's syndrome 1 year before the appearance of skin changes;
- damage to the skin of the trunk and extremities (diffuse thickening of the skin in the area of the hands, chest, back, abdomen); skin hyperpigmentation;
- presence of articular syndrome.
Preliminary diagnosis: scleroderma, rapidly progressive course, with damage to: skin (dense edema, induration, hyperpigmentation, livedo reticularis); joints (arthralgia of the right shoulder joint); vessels (Raynaud's syndrome).
To confirm the diagnosis, the patient underwent standard laboratory tests and specific immunological tests, instrumental studies, as well as a histological examination of a skin flap biopsy.
ECG data, ultrasound of the abdominal cavity and retroperitoneal space, X-ray of the chest organs are within the normal range. Rheovasography of the upper extremities: increased vascular tone D and S in the limb area of the forearm and hand, difficulty in venous outflow.
On the roentgenogram of the right shoulder joint, there is a narrowing of the joint spaces, the conclusion: deforming osteoarthrosis of the 1st degree. On the radiograph of the hands, there is a deformation of the articular surfaces with small exostoses along the edges of the distal phalanges, the conclusion: deforming osteoarthrosis of the 1st degree.
Histological examination of a skin area: the epidermis is thinned in places, the basal layer is pigmented, in the dermis there is a moderately pronounced hyalinosis of collagen fibers. The number of capillaries, sebaceous glands and hair follicles is reduced, the capillaries are empty,
with a flattened basement membrane. Around the capillaries there are single lymphocytes, macrophages and eosinophilic leukocytes.
Thus, the results of additional research methods made it possible to diagnose the degree of activity of the inflammatory process, the data of rheovasography instrumentally confirmed the presence of Raynaud's syndrome, the results of histological examination of the skin flap confirmed the presence of SJS, and the X-ray data of the shoulder joint confirmed osteoarthritis of the 1st degree, in the absence of specific markers of scleroderma. Therefore, specific skin lesions, confirmed histologically, the presence (according to the classification) of clinical manifestations, even in the absence of specific markers of SJS, make it possible to determine the essence of the pathological process and establish a clinical diagnosis:
SJS, rapidly progressive course, activity I, generalized form; with lesions: skin, diffuse scleroderma (dense edema, induration, hyperpigmentation, livedo reticularis); joints (oligoarthritis of the right shoulder joint); vessels (Raynaud's syndrome).
Complication: dysfunction of the joints I.
Treatment. In accordance with the treatment protocols, the patient was prescribed a course of therapy: antifibrotic therapy (penicillamine), anti-inflammatory therapy (meloxicam), vascular therapy (pentoxifylline), enzyme preparations (hyaluronidase). Given the low activity of the process, the absence of systemic manifestations, glucocorticosteroids are currently not indicated.
After the therapy, the patient is discharged with little improvement. There is a feeling of tightness, thickening of the skin in the area of the hands, chest, trunk, back; chilliness of the hands and numbness when exposed to cold loads; the severity of pain in the right shoulder joint has decreased.
It is recommended to continue the started treatment on an outpatient basis: penicillamine 125 mg / day, followed by dose titration according to the scheme, under the control of a clinical blood test and liver tests, pentoxifylline 600 mg (1 month), clopidogrel 75 mg (1 tablet at night) . Re-examination by the city rheumatologist - after 1 month.
Thus, this observation illustrates the difficulties in diagnosing SJS of a rapidly progressive course in a man.
According to rheumatology.kiev.ua
Share:
Add a comment