Focal Scleroderma Research Articles

Extracutaneous Lesions in Patients with Focal Scleroderma of Craniofacial Localization: a Retrospective Cross-Sectional Study

Background. Focal scleroderma is rare, acquired disease characterized by inflammation, sclerosis, skin and underlying tissues atrophy, with no lesions to internal organs. However, craniofacial localized scleroderma (CLS) can lead to neurological, ophthalmic, and maxillofacial changes. Extracutaneous lesions at limited scleroderma remain poorly studied despite its high prevalence. Objective. The aim of the study is to characterize brain anomalies revealed at neuroimaging and to analyze their incidence in pediatric patients with focal scleroderma, as well as to describe comorbid neurological and ophthalmic disorders. Methods. Descriptive retrospective cross-sectional study included 33 pediatric patients who underwent hospital treatment at dermatology and allergology department of National Medical Research Center of Children’s Health with diagnosis of focal scleroderma from 2016 to 2024. All patients were examined by neurologist and ophthalmologist during hospitalization, as well as magnetic resonance imaging (MRI) was performed. The incidence of neurological, ophthalmic, and radiological signs was evaluated in the studied patients as well as their correlations within the data analysis. Results. 33 pediatric patients from 3 to 17 years old were studied. The number of boys and girls was not significantly different (p=0.46). MRI neuroimaging changes were revealed in 17 of 33 patients (51.5%). 12 patients (36.4%) had isolated disorders, 5 (15.1%) — multiple (two or more types) according to MRI data. Neurological disorders were reported in 8 out of 33 patients (24%). Ophthalmic disorders — in 10 out of 33 (30.3%). The study has revealed correlation indicating that the presence of epilepsy in CLS is associated with changes in the brain structure according to MRI (hyperintensive signal at T2-weighted image and FLAIR) (p=0,022). Also, such changes as hypointense signal during T2-VI are correlated with tension headache (p=0.03). No correlation between ophthalmic changes and neuroimaging changes was revealed. Conclusion. Significant number of pediatric patients with CLS have wide range of ophthalmic and neurological manifestations, including neuroimaging abnormalities. Precise and timely diagnosis of these symptoms is crucial for determining treatment intervention.

Випадок генералізованої осередкової склеродермії

The case of generalized local scleroderma with the positive effect as a result of the therapy is described. The goal is to evaluate the therapeutic effectiveness of complex treatment using antifibrotic agents in a clinical case of generalized focal scleroderma.

Pimecrolimus in the clinical practice of a dermatologist

Chronic inflammatory skin diseases are accompanied by the development of objective and subjective symptoms, which are manifested by erythema, edema, infiltration, accompanied by itching of varying severity. The goal of treatment of chronic skin diseases is resolution of objective symptoms and reduction of subjective complaints. Currently, the stages of treatment of varying degrees of severity of chronic dermatoses are defined. Topical glucocorticosteroids are traditionally used in treatment, which have a pronounced anti-inflammatory, immunosuppressive, antiproliferative effect, but the presence of side effects limits their use. In clinical practice, topical calcineurin inhibitors are successfully used, which, along with topical glucocorticosteroids, have an anti-inflammatory effect, reduce the intensity of itching. This article discusses the possible use of pimecrolimus cream 1% in atopic dermatitis and chronic dermatoses (off-label): psoriasis, squamous lichen, rosacea, lupus erythematosus, focal scleroderma, vitiligo, mastocytosis. Pimecrolimus 1% is administered to patients of different age groups in areas with thin sensitive skin, increased resorption capacity, on mucous membranes. Long-term use of pimecrolimus 1% both as a monotherapeutic agent and in combination with other external medications is safe, allows to stop objective and subjective clinical symptoms of diseases, gives an opportunity to use it as a proactive therapy. Long-term clinical studies confirm the safety of the use and long-term use of pimecrolimus cream 1% in different age groups and at different lesion areas. The use of pimecrolimus in skin and mucosal lesions is very promising. Long study of the drug in various dermatoses in different age groups proves its effectiveness and safety.

Localized scleroderma: actual insights and new biomarkers.

Localized scleroderma (LS, morphea, limited scleroderma, focal scleroderma) is a chronic autoimmune disease characterized by a progressive damage to the connective tissue with a predominance of fibrosclerotic disorders in the skin and the subcutaneous tissue. In addition surrounding structures may be affected: fascia, muscle, and bone tissues. This review reflects the current understanding about limited scleroderma, its pathogenesis, diagnosis, new biomarkers, and information about the possibilities of its transition to systemic scleroderma. The following new biomarkers have been identified: galactosylated IgG (Ig-Gal), progranulin (PGRN), chemokine CCXL 18, various types of microRNA (miRNA-let-7a, miRNA-7, miRNA-196a, miRNA-155, miRNA-483-5p), periostin, and myelin basic protein (MBP). Knowledge about new biomarkers of LS will help us to explore the patients' predisposition to the development of systemic scleroderma. In addition, by acting on these biomarkers, it is possible to prevent the progression of LS in the early stages and its transition to systemic scleroderma. The review also presents the current understanding of autoantibodies in LS and their correlation with clinical signs of the disease.

Fibrosing arthropathy in juvenile scleroderma

The group of scleroderma diseases includes a number of clinical entities, the main symptom of which is skin tightening. Scleroderma is a prominent example of these diseases, characterized by excessive synthesis and deposition of collagen in organs and tissues. A patient with juvenile systemic scleroderma with induration of the skin and underlying tissues, and persistent contractures of large joints since childhood, is described. This clinical example illustrates disease course peculiarities and differential diagnosis of systemic and limited (focal) scleroderma and scleroderma-like conditions in pediatric patients. The feasibility of pathogenetic therapy aimed at improving patient's the quality of life with formed disease phenotype is shown.

Стан системи прооксидантноантиоксидантної рівноваги в процесі комплексної терапії у хворих на вогнищеву склеродермію

Introduction. The development of oxidative stress in focal scleroderma is the basis for the use of antioxidant therapy in the treatment of this disease, in connection with which drugs of natural antioxidants are of interest. The objective was to study the effect of complex treatment on the level of oxidative stress of proteins and lipids, the state of the antioxidant defense system in focal scleroderma. Materials and research methods. The study included 78 patients with focal scleroderma. In the comparison group (n=38) treatment was prescribed according to the recommendations. In the main group (n=40) to the basic therapy was added tivortin, eliminal gel, ultraphonophoresis with longidase. The contents of dinitrophenylhydrazones of neutral (E370) and basic character (E430), malonic dialdehyde (MDA), hydroperoxides (HP), reduced glutathione (GR), superoxide dimutase (SOD), catalase (CT), glutathionereductase (GR) were analyzed. Results. It was found that the absolute effectiveness of complex therapy in reducing the level of dinitrophenylhydrazones of neutral and basic nature exceeds the baseline by 27.0 and 26.0% (p<0.05). The therapeutic benefit of the inclusion of antioxidants in complex therapy to reduce the level of diene conjugates was 33.0% (p<0.05), the content of HP – 22.0% (p<0.05), MDA – 41.0% (p<0,05). It was proven the reliable therapeutic efficacy of complex treatment to increase the intensity of antioxidant enzymes, which was 28.0% relative to the level of SOD (p<0.05), 26.0% relative to the content of CT (p<0.05), 42.0% – according to the SOD/CT index (p<0.05), as well as 22.0% to increase the activity of GR (p<0.05). Conclusions. Comprehensive treatment of focal scleroderma, with the addition of drugs that have endothelioprotective, antihypoxic and antioxidant effects, reduce the production of free radicals and restore the activity of enzymes of antioxidant protection is highly effective and pathogenetically justified

Symptoms of Oesophageal Affection in Children With Scleroderma According to Mano-Impedancemetry: A Case Series

Background.Currently, scleroderma is a rather rare disease, including among children. Despite the growing interest of investigators in this pathology, the problem of diagnosing oesophageal affection in various forms of systemic sclerosis remains under-investigated since endoscopic data does not provide a complete picture of the oesophageal function. Currently, mano-impedancemetry (MIP) is the leading method in Europe for determining the oesophageal function, including in children with scleroderma; in the Russian Federation, it is used only in adults. Proper and timely evaluation of the oesophageal motility state will allow not only to expand our understanding of the disease pathogenesis but also to determine the efficacy of the initiated therapy and to give practice suggestions in terms of treatment tactics in the early stages of the disease.Our aim wasto determine the possibilities of mano-impedancemetry for diagnosing oesophageal affection in juvenile scleroderma.Patients and Methods.The study included children with juvenile scleroderma taken to the department of rheumatology and dermatology from June to August 2016. To identify oesophageal function disorders, all patients underwent high-resolution manometry in combination with impedancemetry.Results.A decrease in the distal oesophageal contraction amplitude in more than 30% of “wet” swallows was found in 2 of 7 children with juvenile systemic scleroderma and in one of 6 children with juvenile focal scleroderma. All 13 patients had peristaltic waves in the distal oesophagus with an amplitude of <30 mm Hg. They had interrupted peristalsis, in which the peristaltic wave did not go through the entire length of the oesophagus; one of these patients showed a simultaneous contraction with an amplitude of <30 mm Hg. All children (n=13) showed a positive correlation (r= 0.021) between the systemic disease and impaired motility (р=0.021).Conclusion.Despite the clinical and laboratory methods for diagnosing scleroderma, the data of oesophageal mano-impedancemetry is an important criterion, primarily for the differential diagnosis of systemic and focal scleroderma, and assists in the early initiation of therapy for oesophageal motility disorders.Marina Ju. Stepanyan, Ekaterina I. Alexeeva, Elena V. Komarova confirmed the absence of a reportable conflict of interest.Ekaterina I. Alexeeva — receiving research grants from Pfizer, Roche, Centocor, Novartis.Nikolay N. Murashkin — receiving research funding from pharmaceutical companies Jansen, Eli Lilly. Receiving fees for scientific advice from Galderma, Pierre Fabre, Bayer, Astellas, Libriderm.

CLINICAL SIGNIFICANCE OF EXTRACORPOREAL PHOTOCHEMOTHERAPY IN COMPLEX TREATMENT OF LOCALIZED SCLERODERMA

Background: Scleroderma is an autoimmune disease with progressing lesions of connective tissue where fibrosclerotic and vascular disturbances prevail. Lacking of the united concept of its pathogenesis significantly hampers elaboration of pathogenetic methods of treatment. Conventional methods of treatment of localized scleroderma have insufficient clinical effectiveness, lead to remission of short duration, have a series of side effects and complications. Aim: To raise the efficiency of the focal scleroderma treatment with a complex therapy including a method of extracorporeal photochemotherapy (EPCT). Materials and methods: A total of 19 patients with plaque or linear types of localized scleroderma underwent complex treatment including EPCT. All patients had a steadfast progressing course of the disease with generalized lesions, the signs of early systemic scleroderma being revealed in 3 of them. EPCT-method is based on the photo-sensitizing effect of 8-methoxypsoralene and ultraviolet А radiation of mononuclear cells which were separated using cytopheresis further followed with reinfusion. Every course included 4 exposures implemented every other day. Repeated therapeutic course was set in 3 months. Results: All patients satisfactorily tolerated EPCT procedure without side effects and complications. After 3 therapeutic courses, the disease progression was arrested in all patients, the density of scleroderma foci was diminished, approximately, by 50% as compared to the initial level. The crown of the peripheral growth completely disappeared, and the sizes of the disease foci decreased. The more pronounced clinical effect was achieved in patients with disease duration not exceeding 3 years. Conclusion: The proposed method was efficient in treatment of localized scleroderma and might be applied as an adjuvant therapy.

Trauma Induced Localized Scleroderma

Scleroderma is an unremitting autoimmune disease distinctive by enduring connective tissue sclerosis and microcirculatory transforms. Focal scleroderma is believed to be a limited disease. Post traumatic scleroderma is well acknowledged in the existing literature.

A case of extensive left-sided facial atrophy of Romberg

Progressive facial atrophy or Parry-Romberg syndrome is characterized by slowly progressive facial atrophy involving skin, subcutaneous tissue, cartilage and bony structures. Apart from facial atrophy, it can be associated with diverse clinical manifestations including headache, partial seizures, trigeminal neuralgia, cerebral hemiatrophy and ocular abnormalities. The exact etiology is unknown although sympathetic system dysfunction, autoimmune disorders, focal scleroderma, trauma and genetic factors have been postulated. We hereby report a patient having marked left-sided facial atrophy and wasting of the tongue. Such an extensive wasting is not previously reported in the literature.

Current uses of diagnostic high-frequency US in dermatology

Objective: The diagnosis of most skin diseases, both focal and diffuse, has long relied mainly on physical examination findings. The recent introduction of technologically advanced ultrasound equipment using 20 MHz probes has permitted the specific application of ultrasound to dermatology. Accordingly, we investigated whether the findings at very high frequencies can represent a valid adjunct to clinical assessment in many skin conditions, including neoplasms, inflammatory states and diseases of unknown origin. Materials and methods: Skin lesions are studied using high frequency probes, which very clearly detail the three layers (epidermis, dermis and subcutaneous tissues) forming the normal skin. The choice of the probes frequency should depend mainly on the lesion diameters and site. Electronic 7.5–13 MHz linear probes depict flat and regular surfaces effectively and provide a wider field of surface vision and, therefore, a wider view than sectorial probes. Water bath sectorial mechanical probes with 10–20 MHz frequency have very superficial focusing and are excellent to study irregular surfaces. Results: High frequency ultrasound can be usefully correlated with clinical tests to study focal skin lesions. The diagnosis of most benign skin cancers is usually made on clinical bases. Ultrasound examinations are performed preoperatively in questionable cases. Malignant neoplasms appear at ultrasound as hypoechoic focal lesions, generally with no specific features in relation to the histologic type; nevertheless, preoperative ultrasound may play an important role in that it measures the thickness of cutaneous melanoma, which is a very important prognostic factor. In particular, 20 MHz probes permit to assess the depth of melanoma invasion. The sonographic evaluation of melanoma thickness is usually in agreement with histologic findings. ‘Satellite’ neoplastic lesions growing near the main tumor can also be revealed. Color and power doppler studies may be combined with gray-scale imaging: the identification of abnormal intra- or peritumoral low-resistance pulsatile flow signals suggests the malignant nature of the cutaneous lesion. High frequency ultrasound can also be used to study diffuse cutaneous conditions. Among them, ultrasound can provide a valid morphologic representation of psoriatic skin lesions and it is also a noninvasive and accurate method for evaluating the therapeutic efficacy of antipsoriatic drugs. In scleroderma, sonographic findings vary depending on disease activity and the patterns vary; therefore, 20 MHz probes may also prove useful over the other instrumental tools to monitor the disease course and treatment efficacy in focal scleroderma. Other potential applications include allergic dermatitis, nodular erythema, dermatomyosis, sarcoidosis, lymphedema of the limbs and allergologic conditions. Ultrasound can also be used in monitoring the response to or complications of topic drugs administration, and in the follow-up of focal burns. Conclusion: High frequency ultrasound can provide a reliable morphologic representation of skin lesions but it is also an accurate noninvasive tool for monitoring the therapeutic efficacy of drugs administration in focal or diffuse diseases. The application of high frequency studies to dermatology is very challenging. Indeed, the very high frequency probes up to 20 MHz currently available are particularly useful for reliable studies. Contrast-enhanced color and power doppler are very promising techniques. Advancements in technology will improve the correlation of clinical with high frequency ultrasound findings in the assessment of several skin diseases.

Focal Scleroderma and Severe Cardiomyopathy

A 21-month-old infant presented with simultaneous localized scleroderma and severe cardiomyopathy with heart failure. Cardiac abnormalities and serological changes (positive rheumatoid factor assay, elevated IgM and IgG levels, and elevated erythrocyte sedimentation rate) reverted to normal with prednisone therapy, and there was substantial, though incomplete, resolution of her skin changes during the same period. To our knowledge, this is the first patient with definite, clinically significant cardiac involvement associated with focal scleroderma. The possibility of internal organ involvement, including cardiac involvement, must be considered with focal scleroderma as well as with progressive systemic sclerosis.

Focal scleroderma affecting the hand. Case report.

Focal scleroderma affecting the hand. Case report.

Immunological studies in childhood scleroderma

The results of immunological studies on 13 children suffering from scleroderma are reported. Antinuclear antibodies with speckled pattern of fluorescence could be found in systemic sclerosis and in 3 patients with scleroderma en bandes. The same patients (except but one with PSS) demonstrated high levels of DNA antibodies. The 2 patients with PSS were found to have a very low percentage of T cells, whereas the percentage of B cells was increased. The results demonstrate the significance of autoimmunity not only in systemic sclerosis but also in focal scleroderma. Beyond this it can be presumed that immune deficiency (with a defect in cellular immunity) may be the predisposing cause of at least progressive systemic sclerosis.

Some immunologic considerations in focal scleroderma and progressive systemic sclerosis in children.

Extract: Immunoglobulins (Ig) G, M, and A were significantly elevated in children with focal scleroderma (FS) and progressive systemic scleroderma (PSS), and were significantly higher in those patients who had rheumatoid factor or antinuclear antibodies than in those who did not. Antinuclear antibodies were found in 13 of 23 children with FS and in 5 of 6 children with PSS. Significantly increased binding of antibody to native DNA was detected by radioimmunoassay in 5 of 16 children with FS and in 0 of 6 children with PSS. Persistence of DNA antibody for 6–12 months was demonstrated in two patients with FS and the DNA binding activity correlated with the serum levels of IgG and IgM. The persistence of the high levels of immunoglobulins and autoantibodies are strong evidence of an antigen involved in scleroderma pathogenesis. A case is presented in which antibodies to a specific exogenous antigen (Epstein-Barr virus antigen) were associated with advancing focal scleroderma lesions. Speculation: The fibrosis of scleroderma is probably initiated by an inflammatory process and is accompanied by significantly increased immune activity which indicates an antigen intimately associated with the disease process. The primary antigen is probably exogenous in origin but may give rise to sclerodermatous changes through secondary effects on local tissue antigens.

Rheumatoid Factor (Anti-Gamma-Globulins) in Children With Focal Scleroderma

Seven of 21 children with focal scleroderma were found to have RF (anti-gamma-globulins) in their serum compared with none of 23 control children. Two of the RF-positive children had suggestive evidence of arthritis associated with focal scleroderma. The highest titers of rheumatoid factor were associated with the most severe lesions suggesting a possible relationship of RF to severity of disease.

DNA antibodies in childhood scleroderma.

AbstractSeven of 18 children with focal scleroderma were found to have antibodies to DNA in the IgG or IgM fractions by immunofluorescent spot test, and 8 of the 18 had antibodies to HDNA in the same fractions. One of 6 children with progressive systemic sclerosis had antibody to HDNA in the IgG fraction. Four of 5 children with focal scleroderma were found to have precipitating antibody to DNA and HDNA on double diffusion in agarose. No antibodies to DNA or HDNA were demonstrated in 23 control children, nor in 24 children with dermatomyositis.

Dermatomyositis and Focal Scleroderma

Dermatomyositis and Focal Scleroderma

Focal scleroderma: Report of 19 cases in children

<h2>Summary</h2> Nineteen cases of focal scleroderma in children are presented in order to indicate the natural history of this disease. The symptoms vary according to the partof the body involved, but may be limited or very extensive. While frequently unilateral, lesions may cross the midline. Of the 19 children, all are alive, but 11 have had severe cosmetic disfiguration or some limitation in the use of their extremities. The etiology is unknown and attempts at specific therapy have proved unsuccessful. The most important symptomatic treatment at present consists of orthopedic measures such as splints and casts and physiotherapy to minimize contractures.