Challenges in the diagnosis and treatment of disabling pansclerotic morphea of childhood: case-based review.

Disabling pansclerotic morphea of childhood (DPMC) is a rare subtype of juvenile localized scleroderma (JLS) characterized by pansclerosis mainly affecting children under the age of 14. This aggressive disease has a poor prognosis due to the rapid progression of deep musculoskeletal atrophy resulting in cutaneous ulceration and severe joint contractures. We describe the challenges in treating a previously well 5-year-old male who has refractory symptoms of DPMC. Over the 29 months, since his initial presentation, we trialed over ten therapies. There was subjective improvement with prednisolone and mycophenolate mofetil (MMF). However, other therapies including biologics and tyrosine kinase inhibitors (TKI) were ineffective. The patient has been referred for hematopoietic stem cell transplant given ongoing disease progression. We conducted a literature search focusing on English articles with keywords including DPMC. Publications with limited information or describing cases aged 20 and above were excluded. Thirty-seven case reports were identified and the reported treatments were evaluated. Methotrexate and corticosteroids have been the most commonly utilized. MMF has been anecdotally effective. Biologics, TKI, and Janus kinase inhibitors lack evidence in DPMC, but have had demonstrated efficacy in similar pathologies including systemic sclerosis, and, thus, have been used for DPMC. Phototherapy has been documented to be reducing skin thickness and stiffness of plaques. Eventually, most children require multi-modal and high-dose immunosuppressive therapies to reduce the inflammation inflicted by the disease. Long-term antibiotics and nutritional support are important in the ongoing care of these patients.

Correlação clínica e ultra-sonográfica na esclerodermia localizada cutânea / Clinical and ultrasonographic correlation in localized cutaneous scleroderma", "_i": "en

OBJETIVO: Apresentar os aspectos ultra-sonográficos da esclerodermia localizada e relacioná-los com os aspectos clínicos. MATERIAIS E MÉTODOS: Foram analisadas 23 lesões de esclerodermia localizada em 21 pacientes. Foi utilizado equipamento Logiq 700 com transdutor linear de 6-14 MHz. Foram avaliados, pelo dermatologista, o estágio da doença (inflamatório ou atrófico), e pelo radiologista, a espessura e a ecogenicidade da derme nas regiões afetadas e sãs adjacentes. Foi feito acompanhamento de sete casos após tratamento. RESULTADOS: Todas as lesões apresentaram perda do padrão ultra-sonográfico normal da derme. Os casos de lesão clinicamente atrófica (52,2 por cento; 12/23) corresponderam a redução da espessura e aumento da ecogenicidade da derme e os casos de lesão clinicamente inflamatória (47,8 por cento; 11/23) corresponderam a aumento da espessura e redução da ecogenicidade da derme. Controles pós-tratamento mostraram alterações na espessura da derme. CONCLUSÃO: Os achados ultra-sonográficos nos permitem associar o aumento da espessura e a redução da ecogenicidade da derme com a fase inflamatória da doença, e a redução da espessura e o aumento da ecogenicidade da derme com a fase atrófica da doença. Notamos também que é possível quantificar a espessura da derme e usar essa informação no controle pós-tratamento associada à avaliação clínica.

OBJECTIVE: To describe ultrasonographic findings of localized cutaneous scleroderma and correlating them with clinical findings. MATERIALS AND METHODS: Twenty-three lesions of localized cutaneous scleroderma in 21 patients were evaluated with a Logiq 700 equipment coupled with a 6-14 MHz linear transducer. The disease stage (athrophic or inflammatory) was evaluated by a dermatologist, and the ultrasonographic findings (skin thickness and echogenicity) for both the affected and adjacent healthy regions were evaluated by a radiologist. Seven of the cases underwent post-treatment follow-up. RESULTS: All the affected regions presented loss of the normal ultrasonographic pattern of the dermis. Cases with clinically atrophic lesions (52.2 percent; 12/23) corresponded to reduction in the thickness and increase in the echogenicity of the dermis, and clinically inflammatory lesions (47.8 percent; 11/23) corresponded to decrease in echogenicity and increase in the thickness of the dermis. Post-treatment follow-up demonstrated alterations in the dermis thickness. CONCLUSION: The ultrasonographic findings allow the correlation between increase in the thickness/decrease in echogenicity of the dermis with the inflammatory phase of the disease, and decrease of the thickness/increase in echogenicity of the dermis with the atrophic phase. Also, it could be observed that it is possible to quantify the thickness of the dermis, utilizing this information associated with the clinical evaluation in the post-treatment follow-up.

Systemic sclerosis and localized scleroderma in childhood.

Juvenile scleroderma syndromes, including the systemic and the localized varieties, represent the third most frequent chronic rheumatic conditions in pediatric rheumatology practice. In children, systemic sclerosis shows a significantly less frequent involvement of all organs, a higher prevalence of arthritis and myositis, and a better outcome than in adults. Recently, new classification criteria were proposed, which help improve patient care by enabling earlier, more definite diagnoses and by standardizing the conduct of clinical trials. Localized scleroderma is the more frequent subtype of scleroderma in childhood. It comprises a group of distinct conditions that involve mainly the skin and subcutaneous tissues. They range from small plaques of fibrosis involving only the skin to diseases causing significant functional deformity with various extracutaneous features.

[The clinical picture of morphea]. / Obraz kliniczny twardziny skórnej.

Skin scleroderma (LS) is characterised by stiffness of skin and/or deeper tissues. As opposed to systemic scleroderma, the involvement of internal organs and Raynaud phenomenon are predominately not observed in morphea. LS is quite rare disease, more frequent in women and young people. There are several useful classifications of skin scleroderma in literature, however the classification which concerns the shape and extension of LS lesion and depth of stiffness is concerned to be the most clear. LS is divided into: plaque morphoea, generalised morphoea, blistering morphoea, linear morphoea and deep morphoea. Different types of skin scleroderma lesions can be observed in one patient or can combine linear and deep fibrosis. Presented classification is clinically useful and it has prognostic and therapeutic implications.

[Diagnostic and therapeutic problems of scleroderma]. / Problemy diagnostyczne i terapeutyczne twardziny ograniczonej.

Scleroderma is the autoimmunologic disease with induration and fibrosis of the skin, subcutaneous tissue; sometimes refers to muscles, bones and other internal organs. Pathogenesis of morphea is still unknown. There are two main types of scleroderma: the first type is related only to the skin (localized scleroderma--morphea), while the second is connected with fibrosis and induration of the skin, lungs, heart and other organs (systemic sclerosis). There are various clinical forms of scleroderma circumscripta: linear scleroderma (the most frequent in children), morphea en plaque, generalized morphea, nodular and keloidea like, morphea guttata, scleroderma circumscripta with blisters on the surface-bullous morphea. Morphea profunda is the most severe type of scleroderma localized on the skin. Although the diagnosis of morphea is not so difficult, the treatment is problematic and not very effective. It is very important to initiate the proper treatment as soon as possible. There are three main ways of morphea treatment: medication (receiving local or per os), physical methods (for example phototherapy) and balneotherapy or climatic treatment.

Esclerodermia localizada/morfea / Localized scleroderma/morphea

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Localized and systemic scleroderma.

Scleroderma is a broad term encompassing both localized and systemic sclerosis. Localized scleroderma is a cutaneous limited fibrosis that manifests as plaque morphea, generalized morphea, linear scleroderma, and deep morphea. Systemic scleroderma (sclerosis) can manifest as either limited or diffuse disease. Limited systemic sclerosis is typically preceded by Raynaud's phenomenon, involves cutaneous sclerosis distal to the elbows, with gastrointestinal and pulmonary fibrosis, and anticentromere antibody positivity. Diffuse systemic scleroderma is characterized by simultaneous Raynaud's phenomenon, cutaneous skin involvement proximal to the elbow with gastrointestinal, pulmonary, renal and cardiac fibrosis, and positive serology for antitopoisomerase and anti-RNAP III antibodies. This article discusses the classification, epidemiology, pathogenesis, clinical manifestations, treatment, and prognosis of the scleroderma.

Successful treatment of scleroderma with PUVA therapy.

PUVA therapy was carried out on four patients with scleroderma; three of them had cutaneous manifestations of progressive systemic sclerosis and one other exhibited generalized morphea. PUVA therapy was given with daily doses of 0.25J/cm2 or 0.4J/cm2 for 3-8 weeks, resulting in total doses between 3.5J/cm2 and 9.6J/cm2. All four patients responded well to this treatment; improvements of hand closure, skin sclerosis index, and flexion of fingers or knee joints were obtained. Thus, PUVA appeared to be beneficial for treating scleroderma.

[Systemic sclerosis]. / Systemisk skleros.

Systemic sclerosis is a generalised connective tissue disorder characterised clinically by thickening and fibrosis of the skin and by the involvement of such internal organs as the kidneys, lungs, heart and gastro-intestinal tract. Although the aetiology of systemic sclerosis is unknown, its prevalence has been reported to be increased in workers exposed to silica. Most pathogenic findings in patients with systemic sclerosis involve changes in the vascular system, immunological anomalies and disturbances in the regulation of fibroblast function. Two subsets are recognised according to the degree of skin involvement: the limited cutaneous form, usually confined to acral features; and diffuse cutaneous scleroderma, manifesting involvement both of the trunk and extremities. The latter subset is characterised by more rapid progression of skin and visceral involvement, poorer prognosis and manifestly reduced survival. No adequate therapy has been found, and optimal use of the available therapies necessitates accurate subset assignment of the patient in order to be able to assess the stage of disease in relation to vascular, immunological and fibroblast function changes.

Effect of transcutaneous nerve stimulation on esophageal motility in patients with achalasia and scleroderma.

It has been suggested that low-frequency transcutaneous electric nerve stimulation (TENS) alleviates the dysphagia produced by achalasia and scleroderma of the esophagus. The present study was conducted to elucidate whether TENS treatment improves dysphagia because of changes it induces on esophageal motility. We studied nine achalasia patients before forceful dilatation of the cardias, nine achalasia patients after dilatation, and nine patients with scleroderma. High-frequency TENS was applied to the hand for 30 min while esophageal motility was monitored by manometry. In none of the groups did TENS produce any change in the basal tone of the lower esophageal sphincter, lower esophageal sphincter relaxation, or esophageal body wave amplitude. Low-frequency TENS, used in another seven untreated achalasia patients, also did not improve esophageal motility. Our data indicate that high- or low-frequency TENS does not induce detectable changes in esophageal motility in patients with achalasia or scleroderma.

[Studies on stimulating circulation to end stasis in scleroderma].

Of 725 cases of scleroderma, 265 were of systemic type (the sex ratio being 1M:6F) and 460 of circumscribed type (the sex ratio being 1M:9F). The patients were divided into three groups and treated with three different stimulating circulation to end stasis (SCES) prescriptions. Satisfactory therapeutic effects were obtained in all. According to the clinical practice and laboratory findings, although SCES therapy exerted manifold actions on the disease, it not only softened the indurated connective tissues, tonified the body and improved the symptoms, but also improved laboratory indexes as follows: nailfold bed capillary, parameter of the peripheral blood stream in patients, content of urinary 2-ketol, 17-KS, free corten, serum joint-hexose, amino-hexose and histopathology including ultrastructure of the skin. The main effect was the improvement of circulation, especially the microcirculation and regulation of the metabolism of the connective tissues. Great attention should be paid to the drug's function of softening the indurated connected tissues. For further investigation, the authors have stressed three important points: screening of clinical symptoms and signs, examination of blood circulatory disturbances, and examination of pathological changes of the connective tissue. The necessity of developing new criteria for judging the therapeutic effects was emphasized.