Search

Linear scleroderma is a rare form of localized scleroderma. The involvement of the frontal or frontoparietal region with linear scleroderma is called en coup de sabre (ECDS). ECDS presents as linear sclerotic depressed groove appearing on the frontoparietal region. It is usually unilateral and extends from the forehead into the frontal scalp. Its paramedian location is more common than its median one. The sclerotic changes affect the soft tissue and muscles as well as adjacent structures.1 Linear scleroderma has diverse etiologies, and its pathogenic mechanism is still unclear. Botulinum toxin (BTX) is an exotoxin produced from Clostridium botulinum. It blocks the release of acetylcholine from the cholinergic nerve end plates, resulting in inactivity of the muscles or glands innervated. It has gained a great interest in cosmetic dermatology for its effects on hyperkinetic facial lines and focal hyperhidrosis.2 Recently, BTX has also been used experimentally in many noncosmetic dermatologic conditions with agreeable results.2 We present 2 patients with disfigurement-associated ECDS treated successfully with BTX injection.

Linear scleroderma is a form of localized scleroderma that presents as band-like sclerotic lesions. When it occurs on the scalp or forehead, it is called "en coup de sabre scleroderma" (ECDS). Extracutaneous associations, mostly neurologic, have been described with ECDS. We report a patient with ECDS associated with multiple cerebral cavernomas. This serves to highlight the importance of neuroimaging and multidisciplinary team involvement in patients with ECDS.

Melorheostosis (MEL) is a rare benign bone disorder that can be associated with several anomalies, including vascular abnormalities, nevus sebaceus, unilateral nevoid telangiectasia, linear scleroderma and hypertrichosis. We report the case of a 6-year-old patient who showed an unusual co-occurrence of bone hyperostosis and different skin lesions affecting the same side of the body: MEL, verrucous epidermal nevus, connective tissue nevus, linear scleroderma-like disorder, hyperpigmentation and hypertrichosis. The spatial co-occurrence of these conditions made us speculate as to whether they originated from a common genetic mechanism or if their co-occurrence was completely accidental.

Juvenile localized scleroderma (JLS) is a rare pediatric disease characterized by inflammation and skin thickening. JLS is associated with deep tissue and extracutaneous involvement that often results in functional impairment and growth disturbances. This article provides an overview of the disease with a focus on active features and treatment. We searched databases including PubMed, Elsevier and MedLine and Wanfang, reviewing publications from 2013 to 2019. Selected earlier publications were also reviewed. Linear scleroderma is the most common JLS subtype. Several lines of evidence suggest that JLS is an autoimmune disease. Extracutaneous involvement is common and can present before the onset of skin disease. Multiple skin features are associated with disease activity, and activity can also manifest as arthritis, myositis, uveitis, seizures, and growth impairment. Systemic immunosuppressive treatment, commonly methotrexate with or without glucocorticoids, greatly improves outcome and is recommended for treating JLS patients with active disease and moderate or higher severity. Long term monitoring is needed because of the disease's chronicity and the high frequency of relapses off of treatment. JLS is associated with a risk for disabling and disfiguring morbidity for the growing child. Identifying active disease is important for guiding treatment, but often difficult because of the paucity of markers and lack of a universal skin activity feature. More studies of JLS pathophysiology are needed to allow the identification of biomarkers and therapeutic targets. Comparative effectiveness treatment studies are also needed to work towards optimizing care and outcome.

Linear scleroderma is the most common subtype of localized scleroderma (LoS) in children. It can be associated with extracutaneous manifestations and long-term sequelae. Thus, appropriate diagnosis and management are key to improve the prognosis. In this review, we summarize the most relevant recent publications for the diagnosis, evaluation of disease activity and adequate management of patients with linear scleroderma.There are specific clinical features that indicate activity in LoS; dermoscopy and Wood's lamp may be useful. Summarizing, scoring methods seem to provide the most adequate assessment of LoS; but several biomarkers that correlate with activity have been studied: E-selectin and IL-2 receptor, CD34+ dermal dendritic cells and Th/Th1 immunophenotype with decreased T helper (Th2), T regulatory (Tregs), B and natural killer (NK) cells. Recent studies propose hydroxychloroquine monotherapy and tocilizumab as potential therapeutic options.Clinical evaluation, both physical exam and history, is the most important aspect in diagnosing and assessing activity of linear scleroderma. Clinical scoring methods may be most useful for evaluation of activity; eventually, other biomarkers could be relevant in clinical practice. For most patients with linear scleroderma, the first choice of treatment is methotrexate, but physical therapy, plastic surgery and/or orthopedic management are key to improve residual limitations and quality of life. VIDEO ABSTRACT: http://links.lww.com/MOP/A35.

Retinal vasculitis is a sight-threatening condition that can occur as an isolated ocular disorder or in association with a number of systemic diseases. Parry-Romberg syndrome, also known as progressive hemifacial atrophy (PHA), is a rare disorder of unknown etiology characterized by unilateral facial atrophy and is associated with multiple ophthalmologic and neurologic manifestations. Here we report the case of a 17-year-old man with no prior diagnosis of PHA, who presented with a sudden onset of floaters and decreased vision in the right eye; he was found to have retinal vasculitis and uveitis in the right eye. Routine workup did not reveal the cause of retinal vasculitis. However, thorough physical examination demonstrated features of PHA overlapping with linear scleroderma en coup de sabre. The patient was started on treatment with systemic steroids with a later addition of methotrexate; he responded to treatment with considerable improvement in his symptoms and ophthalmologic examination.

Background Parry–Romberg syndrome, also known as progressive hemifacial atrophy, is a rare degenerative disorder with numerous distinctive clinical presentations. It is usually slowly progressive, occurring more in females, and affects primarily one side of the face; it causes unilateral atrophy and loss of skin, subcutaneous tissue, muscles, and bones, and can even extend to oral structures. Other involvements that can occur are ocular and neurological; however, it is frequently associated with linear scleroderma, known as en coup de sabre. The etiology of the disorder is unknown, although some consider it a variant of morphea (localized scleroderma) and others proposed a malfunction of the sympathetic system as a cause. Imaging studies can support diagnosis and reveal the extent of the disease. Moreover, with the wide systemic involvement in such a condition, a multidisciplinary approach is crucial. Case presentation A 35-year-old Dinka woman presented with left hemifacial atrophy associated with left-sided body hemihypoesthesia and glaucoma with overlapping linear scleroderma “en coup de sabre” for 5 years. Conclusions Parry–Romberg syndrome is a very rare entity causing progressive hemifacial atrophy that could also be associated with linear scleroderma. It has devastating outcomes due to its various systemic involvements; therefore, a multidisciplinary approach is required together with further studies to be performed in order to identify the key etiology and construct a clear guideline for management.

Background:Systemic sclerosis (SSc) is an autoimmune disease characterized by endothelial dysfunction, immunological disorders, and excessive synthesis of collagen and its deposition in various tissues and organs. The juvenile onset SSc before the age of 16 is very rare, with annual incidence of 0.27-0.5 cases per million children according to English and Finnish authors [1,2].Objectives:To present a clinical case of juvenile onset SSc, manifesting from the childhood predominantly with fibrous contractures.Methods:Patient K., 30 yo. Clinical presentation on admission to the Institute of Rheumatology in September 2020: thickening of the trunk and limbs skin (mRSS 10 scores), pronounced induration of subcutaneous tissues and muscles; contractures of the elbow, shoulder, hip and knee joints, short stature (height 142 cm) with proportional shortening of the limbs. ANA (HEp-2) 1/320, a-Scl-70, a-RNP-70 and ACA tests were negative. Ultrasonography revealed left-sided coxitis, esophagogastroduodenoscopy - Barrett’s esophagus. Chest CT, echocardiography, electrocardiography and capillaroscopy yielded no specific findings.The patient has been ill since the age of 3, when SSc manifested with skin thickening, “dry” arthritis and rapid development of contractures of the large joints. Thorough diagnostic elaboration ruled out such potential causes as phenylketonuria, glycogenosis, mucopolysaccharidoses, primary amyloidosis, and porphyria. Histological findings (2007) of a biopsied skin specimen containing subcutaneous fat and muscle tissue included focal vacuolization of keratinocytes, poor perivascular lymphocytic and histiocytic infiltration, fibrosis and hyalinosis of collagen fibers of varying intensity in the in mid- and deep dermis, infiltration of collagen fibers by fibroblasts, skin appendages atrophy – all of them representing a pattern of morphological changes characteristic of SSc. Therapeutic regimens including prednisone at 5-15 mg/day and D-penicillamine were ineffective.Results:In this case, in view of fibrotic arthropathy, a differential diagnosis was made with deep morphea and stiff skin syndrome. Visceral involvement, immunological disorders and biopsy findings substantiated a diagnosis of juvenile onset SSc. Oral MTX was initiated at 15 mg to target skin lesion and osteoarticular symptoms.Conclusion:Predominance of fibrotic arthropathy in presented case caused difficulties in establishing SSc diagnosis, as this patient did not have such inherent features as the Raynaud’s phenomenon, interstitial lung disease or pulmonary hypertension. Juvenile onset SSc manifesting before the age of 16 has its own clinical features, usually persisting through the adulthood, and therefore, such one-of-a-kind appearances of juvenile onset SSc should not be missed or misinterpreted.References:[1]Herrick AL, Ennis H, Bhushan M et al. Incidence of childhood linear scleroderma and systemic sclerosis in the UK and Ireland. Arthritis Care Res. 2010 Feb;62(2):213-8. doi: 10.1002/acr.20070.[2]Pelkonen PM, Jalanko HJ, Lantto RK et al. Incidence of systemic connective tissue diseases in children: a nationwide prospective study in Finland. J Rheumatol. 1994 Nov;21(11):2143-6Disclosure of Interests:None declared

Aim: Frontal linear scleroderma, also known as ‘‘en coup de sabre,’’ is a congenital deformity characterized by atrophy and furrowing of the skin of the front parietal area above the level of the eyebrows. In most cases it occurs as a single paramedian line that may be associated with hypoplasia of underlying structures and facial hemiatrophy. In case of a wide lesion many reconstructive strategies have been proposed. The modern approach is aimed at augmentation of the tissue deficiency by using lipostructure and tissue regeneration. Autologous fat transfer (AFT) seems to be an effective strategy to restore the normal volume and contour of the face while providing a source of adipose-derived stem cells (ADSCs) with a multilineage differentiation potential. Methods: In this report, we present a rare case of linear scleroderma en coupe de sabre which was successfully managed with three stages of autologous fat grafting. Conclusion: The proposed uses for ADSCs in tissue repair and regeneration are quite impressive. Recent works on ADSCs would suggest that adult cells may prove to be an equally powerful regenerative tool in treating congenital and acquired maxillofacial disorders. More importantly, physicians, researchers and international associations need to cooperate in informing clinicians about what practices are based on evidence and to encourage support of additional research. There is increasing interest in a possible therapeutic effect of ADSCs from processed lipoaspirate for a wide spectrum of clinical applications in the facial and craniofacial area. AFT can be used in any facial area where soft tissue is lacking or where there is scarring, producing natural and long-lasting results. Mesenchymal stem cells represent a great tool in regenerative medicine. However, more definitive studies are needed to answer specific questions regarding the best technique to be used and the role of ADSCs. Autologous fat grafting provides a safe and easy approach for the treatment of linear scleroderma en coup de sabre, long-term clinically satisfactory results can be obtained.

A 12-year-old female with oligoarticular juvenile inflammatory arthritis developed an atrophic linear plaque involving the left medial forearm and proximal arm 7 months after intra-articular triamcinolone injection for arthritis. The plaque spontaneously resolved without treatment over approximately one year. It is important to recognize this rare complication of intra-articular steroid injection in order to avoid potential misdiagnosis as linear scleroderma and subsequent immunosuppressive treatment.

Background Localized facial scleroderma usually presents as frontal linear morphea or progressive hemifacial atrophy. Only isolated cases of trigeminal painful neuropathy have been described. Case report A 43-year-old woman developed an oval lesion on the right cheek. After 1 year, she noticed constant “pulling” pain and episodes of lancinating pain, both spontaneous and triggered by chewing and cold drinks. She was diagnosed with solitary morphea profunda and CT scan, ultrasonography, cranial MRI and biopsy were completed. Methylprednisolone (1 gr/day for 3 days) was prescribed. For pain, gabapentin, oxcarbazepine, amitryptiline, pregabalin and eslicarbacepine were all ineffective. A capsaicin patch was placed with prolonged benefit. Later on, the pain slightly worsened; occipital blockade was effective and methotrexate was recommended. Conclusion This is the first case of solitary morphea profunda associated with painful trigeminal neuropathy. Treatment should include immunosuppressants and treatment of neuropathic pain, in which local therapies seem particularly beneficial.

Parry-Romberg syndrome (PRS) is characterized by progressive atrophy of facial skin, soft tissues, muscle, and bone. En coup de sabre syndrome is a form of linear scleroderma (LS) involving the skin of the frontoparietal forehead and scalp. Both conditions can be associated with neurologic findings, including seizures. We explore a case in which skin findings and seizure burden improved with methotrexate therapy.

Linear scleroderma en coup de sabre (LScs) is a variant of localized scleroderma. This disease typically occurs in patients in their 20s or younger individuals and predominantly occurs in the forehead area. A 26-year-old man with linear scleroderma was surgically treated at our center with Medpor (porous polyethylene) and dermal fat graft for the forehead lesion. After 26 months of postoperative follow-up, the depressed lesion that appeared scarred as well as the margins improved significantly. The surgical treatment of LScs using Medpor and dermal fat graft is an effective treatment modality that can increase patient satisfaction.

Localized scleroderma (LS) is a sclerotic skin disorder rarely reported in the veterinary literature. We herein report the first case of a linear LS-like skin lesion in a cat. A 1-year-old castrated male Himalayan cat was presented with a 1-month history of an alopecic, indurated, serpiginous, branched skin lesion on the dorsal cervical to scapular area. The cat had no history of trauma, although a topical spot-on endectocide had been applied near the lesion. Histopathological examination revealed a focal area of hyperplastic dermal collagen with the absence of pilosebaceous units. The cutaneous lesion remained unchanged during a 2-year follow-up period. Clinical and histopathological similarities of this skin lesion with those of the linear form of LS in humans were considered.

Juvenile Localized Scleroderma (JLS) is a rare disorder that may cause severe aesthetic sequelae and functional disability. To date, data on natural history and long-term outcome are discordant and difficult to compare due to the heterogeneity of clinical subtypes, treatments and methods to evaluate activity and outcome in previous studies. A retrospective and cross-sectional study including 133 patients followed between January 1991 and December 2016 was conducted at our Pediatric Rheumatology Centre. Disease course was drawn by retrospective analysis of patients' clinical features, treatment, disease course and outcome at the last evaluation. Disease activity and severity of tissue damage were assessed by using parameters derived from the Localized Scleroderma Cutaneous Assessment Tool (LoSCAT) and thermography. Most patients achieved complete remission, as only 12.5%, all with the linear subtype, had still active disease after over 10 years of follow-up. At least one disease relapse occurred in 22.2% of patients and first flare was observed 20 months after first treatment discontinuation. Mild tissue damage was observed in more than half of patients, in 25.4% was moderate and in 23.0% severe; 19.8% presented a functional limitation. The entity of skin and subcutaneous fat loss established at the early stages of the disease as 27.8% of patients with shorter disease duration had severe damage and the rates remained constant in patients with longer follow-up. The delay in start of systemic treatment was associated with longer disease activity and higher relapse rate. Patients with linear scleroderma (LS), pansclerotic morphea (PM) and mixed subtype (MS) presented more severe aesthetic and functional damage but did not differ from other subtypes as for rate of complete remission. JLS in some patients can be a very aggressive disease with persistent activity after >10 years and/or several disease relapses. As tissue damage establishes early in disease course a prompt diagnosis and start of appropriate treatment is crucial to control inflammation, to limit and stabilize damage, before it become irreversible. Clinicians must be aware that children with JLS may present disease reactivation so it is important to closely follow-up patients, particularly in the first 2 years after discontinuation of treatment when disease relapses may occur more frequently.

is missing (Short communication)

Late-Onset Epilepsy (LOE), with onset in adult life, is often attributed to cerebrovascular disease and intracranial tumor. Herein we present a LOE patient with history of Linear Scleroderma en Coup de Sabre (LScs) and abnormal cranial MRI signs. Curiously, his band-like skin lesion, presenting on the forehead, was in line with the surface projection of the intracranial focus shown in MRI. This gave a clue of the link between the skin lesion and the intracranial focus and the epilepsy. To sum up, it exposed a rare cause of LOE. Moreover, it underlined the significance of recognizing the cause to be associated with a substantially increased risk of developing epilepsy.

Herein we report successful treatment of an adolescent Caucasian female with severe progressive localized scleroderma (mixed subtype, including generalized morphea and linear scleroderma of the trunk/limb) using infliximab and leflunomide. The patient demonstrated improvement after the first 9 months of therapy based on her clinical examination, objective measures, and patient and parent global assessments. Infliximab is a potential treatment option for pediatric localized scleroderma patients who have progression of disease or who are unable to tolerate the side effect profile of more standard systemic therapy. Larger longitudinal studies or case series are needed to confirm and further investigate infliximab’s role in localized scleroderma.

Similar clinical and histhopathological features in progressive hemifacial atrophy and linear scleroderma en coup de sabre are well known. Trauma may predispose to the development of both diseases. The lack of association with anti-Borrelia antibodies was shown in both cases as well. The otolaryngological and endocrine disorders may be associated findings in both diseases. However, there are certain differences in neurological and ophthalmological changes in the diseases.

Linear scleroderma en coup de sabre (LSCS) is the most common form of morphea on the scalp and its trichoscopic features have not been described yet. We report 2 adult women with LSCS with distinct dermoscopic findings. They both had an atrophic well-defined linear patch of alopecia on the frontotemporal scalp. Dermoscopy showed loss of follicular openings on a whitish skin surface; scattered black dots, broken hairs, and pili torti; and short thick linear and branching tortuous vessels on the periphery of the lesion. Pathology confirmed the diagnosis of LSCS in the 2 cases. This description of dermoscopic features in LSCS on the scalp may help in the early diagnosis of the disease.

Background Juvenile scleroderma is a rarely seen chronic connective tissue disorder characterized by stiffening of the skin. The frequency of the disease was reported as one per million. According to organ involvement, the disease is divided into two main forms: systemic and localized scleroderma. Objective Since it is uncommon in children, many aspects of the disease remain discussable. With this review, we aimed to revise recent findings and new developments in this rare condition. Method A systematic literature research was performed, using the following medical databases: Pubmed/ Medline and the Cochrane Library. We searched for up-to-date randomized controlled studies, case-control studies, and cohort studies and cases reports on juvenile scleroderma (both systemic and localized form). Results Skin manifestations are most prominent features of the systemic form, followed by musculoskeletal and vascular involvement. Cardiovascular, gastrointestinal and renal disorders are rare in childhood. Combination of disease modifying anti- rheumatic drugs (methotrexate, mycophenolatemofetil, cyclosporine) and steroid reprents the first line therapy. Bosentan is used for cases with pulmonary hypertension and for extensive digital ulcerations. Biological treatment emerges as a useful treatment option in most severe form of the disease. Localized scleroderma is characterized with sclerodermatosis of the skin. Internal organ involvement is not expected. Classification of the local scleroderma is made according to the size and localization of the skin changes. There are few different therapeutical options but there is no specific therapy for the localized scleroderma. Conclusion Many data regarding disease features and treatment options in juvenile scleroderma are based on studies among adults. There is a striking need for multicentric, prospective studies among children with juvenile scleroderma, in order to elucidate some questions of clinical course and disease prognosis. Recent genetic studies have revealed the role of the genetic factors (namely HLA class II) in the pathogenesis of the disease. Emerging biological agents and new treatment options are showing promising results.

Background To date, standardized methods for assessing the disease progression of linear scleroderma of the face (LSF) are lacking. Objectives We investigated whether Cone Beam Computed Tomography (CBCT) may represent a reliable tool for assessing linear scleroderma of the face (LSF). Methods Ten patients with LSF and five age-matched controls underwent CBCT assessment. The transverse sections at three anatomic levels of the maxillofacial bones were analyzed. Measurements of soft tissue and total thickness of both affected and unaffected side of the face were made by a standardized methodology. Six raters evaluated CBCTs twice and blindly one from the other. The intra- and inter-rater reliability was assessed by the Intraclass Correlation Coefficient (ICC). Results CBCT was fast and well tolerated by the patients. The inter-rater concordance for the total thickness was excellent, mean ICC 0.75 for patients, 0.89 for controls. The mean ICC for soft tissue thickness was 0.49 for patients, 0.66 for controls. 58.3% of the measurements for patients and 91.2% of those for controls showed excellent ICC results (≥ 0.75). The intra-rater concordance resulted optimal (ICC 0.77–0.99). Conclusions CBCT is a reliable technique to assess skin and bony changes of LSF.

En coup de sabre (yüzün lineer skleroderması), alın ve saçlı derinin frontopariyetal bölgesini tutan, morfeanın (lineer skleroderma) nadir görülen bir tipidir. Gelişiminde travma, immobilizasyon, BCG aşısı, K vitamini enjeksiyonları, giysilerin mekanik basısı gibi tetikleyiciler suçlanmıştır. En coup de sabre genellikle pediatrik popülasyonda görülür, olguların %67’si 18 yaşından önce tanı almıştır. Burada, 30 yaşında yetişkin bir hastaki en coup de sabre geç başlangıcı vurgulamak amacıyla sunulmuştur., En coup de sabre (linear scleroderma offace) is a rare type of morphea (localized scleroderma) involving frontoparietalarea of the forehead and scalp. Many triggering factors have been blamed in thedevelopment of morfea like trauma, immobilization, BCG vaccination, injectionsof vitamin K, mechanical compression from clothing, etc. En coup de sabreusually affects the pediatric population, with 67 % of patients diagnosedbefore 18 years of age. In this article, it was reported to emphasize the latestarted a case of 30 years old female.En coup de sabre (yüzün lineer skleroderması), alın ve saçlıderinin frontopariyetal bölgesini tutan, morfeanın (lineer skleroderma) nadirgörülen bir tipidir. Gelişiminde travma, immobilizasyon, BCG aşısı, K vitaminienjeksiyonları, giysilerin mekanik basısı gibi tetikleyiciler suçlanmıştır. Encoup de sabre genellikle pediatrik popülasyonda görülür, olguların %67’si 18yaşından önce tanı almıştır. Burada, 30 yaşında yetişkin bir hastaki en coup desabre geç başlangıcı vurgulamak amacıyla sunulmuştur.

Background Musculoskeletal (MS) involvement and clinically evident arthritis occurs in up to 65% of patients with Juvenile Systemic or localized Scleroderma (JSc). It may be the first manifestation preceding even the onset of Raynaud or skin manifestations; patients presenting with arthritis, tenosynovitis or enthesistis may suffer from Sc. On the other hand clinical examination often underestimates MS involvement in Sc. US and MRI can help distinguish arthritis with effusion from dry tenosynovitis of Sc, define whether loss of range of motion (LOM) derives only from skin thickening or from bone and joint involvement and monitor disease progression. Objectives To describe the spectrum of MRI and US features in juvenile scleroderma with musculoskeletal involvement. Methods We describe MRI and color Doppler MSUS findings of clinically affected (with arthritis and/or LOM and/or overlying skin with edema or sclerosis) lower or upper extremities from 4 males and 2 females;2 with systemic sc (ssc), 2 with linear scleroderma, 1 with generalized morphea, 1 with mixed morphea (median age 8,5 years, range 7–10,5; median time from symptom onset to MRI 11 months, range 2–24). MRI sequences;T1, fluid-sensitive, and T1-FS contrast-enhanced. Comparisons were made to uninvolved areas of the extremity, and the contralateral extremity. Findings guiding diagnosis and evaluation of disease extent are depicted in the Figure. Results Thickening of the dermis and infiltration of the subcutaneous fat with increase in signal intensity on fluid sensitive sequences and contrast-enhanced T1w images and hypointense signal lesions on unenhanced T1w images (asterisks) was apparent in 4 patients. In 2 male patients with generalized scleroderma, clinical LOM of fingers and wrists preceded skin sclerosis by 2 months. Joint and tendon sheath synovitis, indicated by initial MSUS, was detected in fluid sensitive and T1w enhanced images (white arrows). The combination of tendon-sheath synovitis and muscular fascia thickening and enhancement (black arrows), and contractures (thin white arrow) very characteristic of scleroderma, helped identify sclerodermatous musculoskeletal involvement in the absence of skin induration. Focal bone marrow edema depicted as high signal intensity in fluid sensitive sequences (curved arrow) was found in 2 cases; 1 with generalized morphea without apparent overlying skin sclerodermatous lesion, 1 with linear scleroderma with atrophic lesions in all overlying structures Conclusions Musculoskeletal imaging features of juvenile scleroderma involving the skin, fascia, musculature and bones reflect pathomorphologic changes of this rare disorder and enable a complete assessment of the disease extent, including depth of infiltration and disease activity.In the described cases implementation of MSUS and MRI in Juvenile scleroderma led to earlier definition of the diagnosis and assisted the evaluation of disease extension. References Zulian F et al. Arthritis and Rheumatism 2007 Mar 15;57(2):203–12. Eusler E et al. Pediatr Radiol 2017 Jan 14. Schannz S et al. RSNA 2011. Torok K Pediatr Clin North Am. 2012 April;59(2):381–405. Disclosure of Interest None declared

Background and aims Many autoimmune and inflammatory diseases have been found to be associated with morphea. Thrombocytopenia, however, has rarely been reported Aim-To describe the profile of 4 patients with localised scleroderma and thrombocytopenia Methods A retrospective case record review of children diagnosed to have localised scleroderma in the paediatric rheumatology clinic of a tertiary care referral institute in North-West India. Children who also had thrombocytopenia (i.e. platelet counts Results Twenty two children were diagnosed with localised scleroderma (10 boys and 12 girls, male: female ratio 1:1.2). Thrombocytopenia was identified in 4 children (prevalence-18%). The details of these 4 cases are summarised in Table 1. All 4 cases had en coup de sabre (ECDS) type of linear scleroderma. (Figure 1) Peripheral smear examination revealed normal platelet size. The lowest platelet counts ranged from 8×109/L to 120×109/L. ANA was positive in 2 patients (case 1 and 2) and case 1 also had positive lupus anticoagulant in her serum. Methotrexate (0.5 mg/kg/week) was used for the treatment of morphea in 3 patients while one child was treated with topical calcipotriol ointment alone. No specific therapy was prescribed for thrombocytopenia, except in case 1 where thrombocytopenia was treated with injection anti D. Platelet counts recovered in 3 patients, while thrombocytopenia is still persisting in one patient. Conclusions Thrombocytopenia associated with localised scleroderma in children is usually benign, has a probable autoimmune aetiology, requires no specific therapy and is generally curable with the systemic immunosuppressant medications used for the treatment of scleroderma

We report the case of a 9-year-old girl with linear scleroderma en coup de sabre (LSCS) who developed progressive white matter involvement, presenting as intractable hemiplegic migraine-like attacks induced by exercise. After a period of severely aggressive course, clinical and radiological stabilization was achieved under immunosuppressant treatment. Intrathecal synthesis of IgG and lymphocytic pleocytosis provided indirect evidence of a chronic inflammatory process of the central nervous system. We discuss the possible immunopathogenic mechanisms responsible for the neurocutaneous involvement in LSCS, favouring the hypothesis of an autoimmune and inflammatory vasculopathy. The singular occurrence of hemiplegic migraine triggered by exertion add further insight to the currently unknown pathogenesis of scleroderma disorder. In addition, we highlight the importance of intensive immunosuppression approaches in selected cases, contrasting with the classic benign course of LCSC.

Parry–Romberg syndrome (PRS) is a rare condition that still having no clear etiology. It is marked by a progressive hemifacial atrophy (PHA) of the muscular, bony, glandular, and fat tissues. Such manifestations are especially present in the lower third of the face. It causes important esthetic problems together with functional and psychological issues due to facial asymmetry. The present case report involves a 33-year-old woman with PHA that started at the age of 12. Despite the evident involvement of the left side tissues and the early age of onset, she had neither sight changes nor dental malformations. PRS is a rare disorder causing PHA that could be misdiagnosed as linear scleroderma. It affects the patient's life quality on various levels. Hence, further studies and a multidisciplinary approach are necessary to determine the exact etiology and to establish precise guidelines for the treatment planning.

Linear scleroderma (LS) is clinically characterized by the presence of sclerotic areas of skin, which develop in a linear pattern. Primary sclerosing cholangitis is a cholestatic disorder that can lead to end-stage liver disease. We present, for the first time in English literature, the case of a patient suffering from both the diseases. This highlights the fact that, even though LS has conventionally been considered to be a form of localized scleroderma, this does not necessarily imply that it is an exclusively cutaneous disease.

Morphea or localized scleroderma is a distinctive inflammatory disease that leads to sclerosis of the skin and subcutaneous tissues. It comprises a number of subtypes differentiated according to their clinical presentation and the structure of the skin and underlying tissues involved in the fibrotic process. However, classification is difficult because the boundaries between the different types of morphea are blurred and different entities frequently overlap. The main subtypes are plaque morphea, linear scleroderma, generalized morphea, and pansclerotic morphea. With certain exceptions, the disorder does not have serious systemic repercussions, but it can cause considerable morbidity. In the case of lesions affecting the head, neurological and ocular complications may occur. There is no really effective and universal treatment so it is important to make a correct assessment of the extent and severity of the disease before deciding on a treatment approach.

Among all different types of cutaneous scleroderma, Parry Romberg syndrome and linear scleroderma "en coup de sabre" typically involve the visage. Gradual degeneration of the tissues, from the skin up to the bone, is the stigmata of the diseases and the range of clinical manifestations is wide. They typically start during childhood and slowly progress before stabilizing. Considering the gravity of the associated deformity and its impact on facial function and appearance, we strongly advocate a prompt intervention that however must be tailored on paediatric patients. There is not a general consensus on hemifacial atrophy treatment, but autologous fat grafting has been proved to be a suitable technique, due to its low morbidity, repeatability and efficacy in correcting volume defects and in improving skin texture. Following the same concept of safeness and non-invasiveness we propose 3D stereophotogrammetric acquisitions as a possible tool for the pre- and post-surgical follow up, indispensable to evaluate the surgical results. We present our case series composed of 8 paediatric patients, aged between 11 and 17 years, who underwent several lipofilling procedures, from 2012 to 2016. Starting from 2015, 3D stereophotgrammetric data has been obtained.

Morphea, or localized scleroderma, is an inflammatory disease that leads to sclerosis of the skin and underlying tissues due to excessive collagen deposition. Oral involvement is unusual and it may produce white linear fibrotic areas with a scar-like appearance, atrophy of tongue papillae, gingival recession and alveolar bone resorption. We report a case of a 13-year-old girl who consulted for progressive recession on the attached gingiva of her upper left incisors. She also presented a hypopigmented line on the left side skin of her upper lip, which continued through the vermilion and the lip mucosa, including the gingiva of the affected teeth. Clinical examination, blood tests, computerized axial tomography, echo-Doppler ultrasound and histopathological evaluation confirmed the diagnosis of morphea. Treatment with methotrexate and systemic corticosteroids was conducted. After 24 months, no other lesions appeared. No adverse side effects have been reported so far. Key words:Localized scleroderma, oral morphea, linear scleroderma, oral involvement, intraoral lesions.