Atrofodermia Idiopática de Pasini y Pierini, un abordaje inusual / Idiopathic atrophoderma of Pasini and Pierini, an unusual approach

La atrofodermia idiopática de Pasini y Pierini es una entidad poco frecuente y de etiología aún no esclarecida, se presenta con una frecuencia hasta seis veces mayor en mujeres que en hombres y una posible asociación con la esclerodermia localizada (morfea). Paciente femenina de 30 años, quien consultó por una lesión asintomática de dos años de evolución en el glúteo izquierdo. En el examen físico se evidenció una placa ovalada, deprimida y acrómica en su centro, que mide cinco por diez centímetros. La paciente había sido tratada previamente con múltiples terapias tópicas sin obtener mejoría clínica. Se realizó la biopsia de piel que demostraba cambios mínimos en epidermis, homogenización y adelgazamiento de colágeno sin afección de anexos. Se hizo correlación con los hallazgos clínicos y se decidió iniciar tratamiento con esteroides intralesionales de alta potencia (acetónido de triamcinolona). Posterior a la administración de dos aplicaciones del medicamento, con cuatro semanas de diferencia entre ellas, se evidenció la resolución completa de la dermatosis. Un mes después de la última dosis la paciente no mostró recidivas

diopathic atrophoderma of Pasini and Pierini is a rare entity of unclear etiology, occurring as much as six times more frequently in women than in men, with a possible association with localized scleroderma (morphea). It is about a 30 years old woman who consulted with an asymptomatic lesion of two years of evolution on the left gluteal region. Physical examination revealed an oval plaque, depressed and acromic in its center, measuring five by ten centimeters. A 30 years old female patient who consulted about an asymptomatic lesion of two years of evolution on the left gluteal region. Physical examination revealed an oval plaque, depressed and acromic in its center, measuring five by ten centimeters. The patient was previously treated with multiple topical therapies without clinical improvement.Skin biopsy showed minimal changes in the epidermis, homogenization, and thinning of the collagen without adnexal involvement. After a correlation was made with the clinical findings, starting treatment with high-potency intralesional steroids (triamcinolone acetonide) was recommended. After administering two applications of the drug, four weeks apart, the complete resolution of the dermatosis was evidenced. One month after the last dose, the patient showed no recurrence

Esclerodermia. Manifestaciones bucomaxilofaciales, prevención y atención odontológica. Revisión narrativa / Scleroderma. Oral and maxillofacial manifestations, prevention and dental care. Narrative review

Resumen La esclerodermia pertenece a un grupo de enfermedades autoinmunes del tejido conectivo que produce inflamación, disfunción vascular y fibrosis excesiva del tejido de soporte de la piel y los órganos viscerales. A nivel bucal se presentan afecciones como la xerostomía y la microstomía, así como caries y enfermedad periodontal por dificultades en el control de la placa bacteriana. Su tratamiento odontológico requiere un manejo integral, que comprenda las patologías bucales presentes y los síntomas permanentes característicos de la enfermedad. Si bien es una patología muy infrecuente en la práctica general, es necesario enfatizar la importancia de que el odontólogo cumpla un rol multidisciplinario en el tratamiento de estos pacientes. Esta revisión narrativa tiene por objetivo describir las manifestaciones bucomaxilofaciales y el manejo odontológico del paciente con esclerodermia.

Abstract Scleroderma belongs to a group of autoimmune connective tissue diseases that causes inflammation, vascular dysfunction and excessive fibrosis of the supporting skin tissue and visceral organs. In the mouth, conditions such as xerostomia and microstomy are evident, as well as caries and periodontal disease due to difficulty in bacterial plaque control. Its dental treatment requires an integral management, which includes the oral pathologies present and the characteristic permanent symptoms of the disease. Although this pathology is not very common in the general practice, it is necessary to emphasize the importance of the dentist playing a multidisciplinary role in the treatment of these patients. This narrative review aims to describe the oral and maxillofacial manifestations and the dental management of patients with scleroderma.

Enxertos compostos de gordura para correção de distrofia facial em caso de esclerodermia localizada / Composite fat grafts for correcting facial dystrophy in a case of localized scleroderma

A esclerodermia localizada (morfeia linear) é uma doença rara que causa distrofia e assimetria faciais em mulheres jovens. É relatado o caso de uma paciente de 20 anos que foi tratada com enxertos compostos de gordura. Após a coleta do lipoaspirado de gordura subcutânea profunda, a microgordura e a nanogordura não filtrada foram processadas separadamente para formar enxertos compostos de gordura. Estes foram meticulosamente transplantados em camadas, para reconstruir o subcutaneo da face da paciente. Após um ano, observou-se boa pega de gordura com correção bem-sucedida da assimetria e restabelecimento do equilíbrio facial.

Localized scleroderma (linear morphea) is a rare disease that causes facial dystrophy and asymmetry in young women. We report the case of a 20-year-old female patient who was treated with novel composite fat grafts. After extracting lipoaspirate from deep subcutaneous fat, the microfat and the unfiltered nanofat were processed separately, and amalgamated, obtaining composite fat grafts. These were meticulously transplanted layer by layer to rebuild the subcutaneous tissue of the patient's face. After one year, a good volume of fat retention was observed with successful correction of asymmetry and restoration of facial balance.

Simpatectomía de la arteria radial y ulnar en contexto de úlcera digital secundaria a esclerosis sistémica cutánea localizada / Radial and ulnar artery sympathectomy in the context of digital ulcer secondary to localized cutaneous systemic sclerosis

SPeripheral sympathectomy is a procedure which has shown high rates of decreasing ischemic pain, recover functionality and wound healing, preventing the progression of the disease and further complications. We present a female patient with severe Raynaud´s phenomenon secondary to localized cutaneous systemic sclerosis complicated who presented digital ulcer treated with a sympathectomy of the radial and ulnar artery at the wrist level, undergoing post-operative follow-up.

Morfea lineal en golpe de sable: a propósito de un caso / Linear morphea in saber coup: about a case

La morfea lineal en golpe de sable es una entidad dermatológica caracterizada por la inflamación esclerosante y progresiva del tejido cutáneo en la región frontal y/o en el cuero cabelludo. La cefalea y las crisis convulsivas son dos de los síntomas extracutáneos más frecuentes y están causados por el crecimiento subyacente de la lesión. Es importante un diagnóstico temprano para frenar la progresión e intentar evitar las complicaciones secundarias, principalmente neurológicas. El diagnóstico se basa en el cuadro clínico y el estudio histológico, que permite la confirmación definitiva. El tratamiento de elección es la terapia combinada con corticoides orales y metotrexato. Aun con el tratamiento farmacológico adecuado, esta patología puede presentar un curso recidivante y dejar secuelas a largo plazo. Se presenta el caso de una niña en quien se realizó un diagnóstico rápido de esta enfermedad, a pesar de un cuadro clínico inespecífico. Fue tratada con metotrexato oral con buena respuesta, sin efectos secundarios.

Linear morphea in coup de sabre is a dermatological entity characterized by progressive, sclerosing inflammation of the skin tissue in the frontal region and on the scalp. Headache and seizures are two of the most frequent extracutaneous symptoms and they are caused by the growth of the lesion towards underlying structures. An early diagnosis is important to stop cranial progression and try to avoid secondary complications, mainly neurological. The diagnosis is relied on compatible clinical signs and a pathological study that allows a definitive confirmation. The treatment of choice is combination therapy with oral corticosteroids and methotrexate. Despite an adequate pharmacological treatment, this pathology can present a recurrent course and cause long-term sequelae. We present the case of a girl who was diagnosed quickly, despite a not very noticeable symptoms. She has been treated with oral methotrexate with a good response, without side effect

Advances in diagnosis and treatment of juvenile localized scleroderma / 国际儿科学杂志

Juvenile localized scleroderma is a rare childhood disease, the specific pathogenesis of this disease has not been fully clarified.Early recognition and timely diagnosis are crucial, early intervention is associated with good prognosis.But there is a lack of relatively reliable evaluation of disease activity and treatment response.At present, the main diagnostic basis of the disease is clinical manifestations.When there is doubt about the diagnosis, skin or subcutaneous tissue biopsy is required.In addition, high frequency Doppler ultrasound, shear-wave elastography, infrared thermal imaging, MRI, cone beam computed tomography, and dermatology evaluation tools, etc., all can reflect the patient′s condition to a certain extent.However, systematic evaluation should be improved in the process of diagnosis and treatment.In terms of treatment, hormones and methotrexate are still the first-line treatment for the disease, while evidence for second-line therapy is limited.Mycophenolate, hydroxychloroquine, cyclosporine A, tocilizumab and infliximab may play a certain role in the treatment of this disease.

Clinical Effect of Mahuang Xixin Fuzitang Combined with Acupuncture and Moxibustion in Treatment of Localized Scleroderma / 中国实验方剂学杂志

ObjectiveTo observe the clinical effect of Mahuang Xixin Fuzitang combined with acupuncture and moxibustion in the treatment of localized scleroderma. MethodA total of 95 patients with localized scleroderma treated in Wuhan No. 1 Hospital from September 2019 to October 2021 were assigned into a control group （47 patients） and an observation group （48 patients） by random number table method. The control group was treated with Centella triterpenes tablets and heparin sodium cream， and the observation group was additionally treated with Mahuang Xixin Fuzitang combined with acupuncture and moxibustion. Both groups were treated for 8 weeks， and the clinical effect was compared between groups. The traditional Chinese medicine（TCM） syndrome score （local skin sclerosis， loss of skin texture， darkening of skin pigment， scaly dry skin， etc.）， serum levels of soluble interleukin-2 receptor （sIL-2R） and tumor necrosis factor-alpha （TNF-α）， erythrocyte sedimentation rate （ESR）， and eosinophil count （EO） were compared between before and after treatment as well as between groups. Additionally， the adverse reactions were recorded. ResultThe observation group had higher total effective rate than the control group ［95.83% （46/48） vs. 82.98% （39/47）， χ2=4.166 4， P<0.05］. Before treatment， the TCM syndrome score， sIL-2R， TNF-α， ESR， and EO showed no significant differences between the two groups. The 8 weeks of treatment improved the TCM syndrome score， sIL-2R， TNF-α， ESR， and EO. Moreover， the observation group was superior to the control group in these indicators （P<0.05）. During the treatment， the observation group showed 1 case of abnormal liver function and 1 case of nausea and vomiting， and the control group had 1 case of nausea and vomiting， 1 case of abnormal renal function， and 1 case of abnormal liver function. The total adverse reactions of the observation group （4.17%） and the control group （6.38%） had no significant difference （χ2=0.233 9， P=0.062 86）. ConclusionMahuang Xixin Fuzitang combined with acupuncture and moxibustion is safe and effective in the treatment of localized scleroderma.

Clinical Effect of Mahuang Xixin Fuzitang Combined with Acupuncture and Moxibustion in Treatment of Localized Scleroderma / 中国实验方剂学杂志

ObjectiveTo observe the clinical effect of Mahuang Xixin Fuzitang combined with acupuncture and moxibustion in the treatment of localized scleroderma. MethodA total of 95 patients with localized scleroderma treated in Wuhan No. 1 Hospital from September 2019 to October 2021 were assigned into a control group （47 patients） and an observation group （48 patients） by random number table method. The control group was treated with Centella triterpenes tablets and heparin sodium cream， and the observation group was additionally treated with Mahuang Xixin Fuzitang combined with acupuncture and moxibustion. Both groups were treated for 8 weeks， and the clinical effect was compared between groups. The traditional Chinese medicine（TCM） syndrome score （local skin sclerosis， loss of skin texture， darkening of skin pigment， scaly dry skin， etc.）， serum levels of soluble interleukin-2 receptor （sIL-2R） and tumor necrosis factor-alpha （TNF-α）， erythrocyte sedimentation rate （ESR）， and eosinophil count （EO） were compared between before and after treatment as well as between groups. Additionally， the adverse reactions were recorded. ResultThe observation group had higher total effective rate than the control group ［95.83% （46/48） vs. 82.98% （39/47）， χ2=4.166 4， P<0.05］. Before treatment， the TCM syndrome score， sIL-2R， TNF-α， ESR， and EO showed no significant differences between the two groups. The 8 weeks of treatment improved the TCM syndrome score， sIL-2R， TNF-α， ESR， and EO. Moreover， the observation group was superior to the control group in these indicators （P<0.05）. During the treatment， the observation group showed 1 case of abnormal liver function and 1 case of nausea and vomiting， and the control group had 1 case of nausea and vomiting， 1 case of abnormal renal function， and 1 case of abnormal liver function. The total adverse reactions of the observation group （4.17%） and the control group （6.38%） had no significant difference （χ2=0.233 9， P=0.062 86）. ConclusionMahuang Xixin Fuzitang combined with acupuncture and moxibustion is safe and effective in the treatment of localized scleroderma.

Stroke-mimic and scleroderma in "coup de sabre": Case report / Stroke-mimic y esclerodermia en «coup de sabre¼: reporte de caso

ABSTRACT A case is presented of an atypical manifestation of localized scleroderma. The patient is a 30-year-old Caucasian women with localized facial scleroderma "coup de sabre", with clinical stability foryears. She was seen in the Emergency Department due to a sudden lack of sensitivity in her left side, and was treated as a stroke. Complementary tests showed intracranial parenchymal images that were finally attributed to the localized scleroderma. After a comprehensive literature review, this presentation was more frequent than expected. This is why neurological symptoms should be carefully evaluated in these patients. This is the first stroke-mimic case reported.

RESUMEN A continuación, presentamos el caso de una paciente con una manifestación atípica para esclerodermia localizada. Mujer de 30 an˜ os con esclerodermia localizada facial en sabré¼, con estabilidad clínica de las lesiones durante an˜ os. En el 2017 acude al servicio de urgencias por un cuadro de alteración sensitiva en hemicuerpo izquierdo que fue tratada como un ictus. En los estudios complementarios se objetivaron lesiones parenquimatosas finalmente atribuibles a la esclerodermia localizada. Tras revisar la literatura, este tipo de lesiones es más frecuente de lo esperado, por lo que parece obligatorio dedicar más atención a los síntomas neurológicos en los pacientes con esclerodermia localizada. Este es el primer caso de stroke-mimic reportado.

Progress in the treatment of juvenile localized scleroderma / 中华实用儿科临床杂志

Juvenile localized scleroderma (JLS) is a rare rheumatic immune disease in children, which is characterized by early inflammation and late fibrosis of skin and subcutaneous tissues.At present, the pathogenesis of JLS remains unclear, and lacks specific treatment.This study reviews the research progress of clinical assessment, drug therapy, physiotherapy and surgical therapy of JLS, aiming to provide references for clinical treatment of JLS.

Esclerodermia localizada en Coup de Sabre: a propósito de un caso / Localized Scleroderma en Coup de Sabre: a case report

INTRODUCCIÓN: La esclerodermia localizada o morfea corresponde a una patología idiopática autoinmune que produce cambios escleróticos subcutáneos, que presenta diferencias con respecto a la esclerosis sistémica o esclerodermia. Un tipo de morfea lineal es la morfea "En Coup de Sabre" que consiste en la contracción y rigidez de la piel que culmina con una depresión de parte de la mitad del rostro, que puede asociarse a síntomas oftalmológicos y neurológicos. Aquí se describe un caso en un hombre joven con este tipo de morfea lineal. PRESENTACIÓN DEL CASO: Hombre de 23 años presenta lesión cutánea de morfología triangular en región frontal izquierda, por lo que decide consultar a dermatología, dónde se maneja con corticoides tópicos. Dos años después, la lesión sigue creciendo y se asocia a cefalea occipital, sin otros síntomas sistémicos. Se decide estudiar con biopsia, ecografía de cuero cabelludo y resonancia nuclear magnética (RNM) cerebral con gadolinio. Se diagnostica morfea en coup de sabre e indica tratamiento inmunosupresor. DISCUSIÓN: Dado que la Morfea en Coup de Sabre es una patología que compromete el rostro, es relevante realizar una derivación al oftalmólogo para evaluación de compromiso ocular y realizar una RNM para evaluación neurológica, en este caso ambos estudios resultaron negativos. El estudio serológico no es siempre necesario y debemos ser cautelosos en el uso de esta herramienta. Cuando existen dudas diagnósticas, se puede recurrir a una biopsia del tejido comprometido, la que debe incluir grasa subcutánea. La biopsia también ayuda para ver el grado de compromiso cutáneo que presenta el paciente. Con respecto al manejo, los corticoides tópicos son la elección para el manejo de lesiones agudas. El Metotrexato ha demostrado ser útil en lesiones agudas y profundas, asociado o no a corticoides.

INTRODUCTION: Localized scleroderma or morphea is an idiopathic autoimmune disorder that causes subcutaneous sclerotic changes and is different from systemic sclerosis or scleroderma. The morphea in "coup de Sabre" is a subtype of linear morphea that usually involves the forehead and scalp causing contraction and stiffness of the skin that culminates in a depression and that may be associated with ocular and neurological symptoms. We present a case of a young male patient with morphea in coup de sabre. CASE PRESENTATION: A 23 years old male patient presents with a skin lesion of triangular morphology in the left-frontal region. He was initially treated with topical corticosteroids, but had persistent growing of the skin lesion associated with new onset occipital headache. Ultrasound of the lesion as well as skin biopsy were performed confirming morphea in coup de sabre. Brain magnetic resonance imaging with gadolinium was normal. Inmunosuppresive tratment was started. DISCUSSION: Morphea in Coup de sabre is an rare disease. It is more frequent in women and children. Because it involves the deep tissues of the face and forehead, it is relevant to rule out any ocular or neurological involvement. The serological study is usually not necessary and results are of uncertain interpretation. When the diagnosis is unclear, a biopsy of the compromised tissue may help to identify inflammation and/or atrophy and to evaluate the degree of activity of the lesion. Ultrasound is also an useful tool for evaluation of the activity of the skin lesion, comparable to biopsy. Regarding treatment, topical corticosteroids are the first line therapy for acute lesions. Methotrexate has proven to be useful in deeper active lesions, with or without corticosteroids. Finally, there is an important asociation between this type of lineal morphea and progressive hemifacial atrophy (Parry Romberg syndome), which may involve the brain and needs to be referred to the specialist as soon as possible.

Morphea: a practical review of its diagnosis, classification and treatment

Morphea, or localized scleroderma, is a rare disease of the connective tissue that manifests itself with localized sclerosis of the skin and, in some cases, with extracutaneous manifestations. Its etiology is not fully understood, but it is believed that there is genetic predisposition, in addition to environmental triggering factors. Classification of the disease is not simple due to its multiple presentations; however, it is useful in order to define the treatment, which should be individualized and started early to avoid cosmetic and functional complications. In this review, we summarize the most important practical aspects of the classification, diagnostic methods and evaluation of morphea activity, as well as available therapeutic options, with an emphasis on existing clinical evidence regarding their efficacy and safety.

Manejo ortopédico de la esclerodermia lineal localizada en niños: reporte de un caso / Orthopedic management of localized linear scleroderma in children: a case report

Resumen: Introducción: La esclerodermia localizada es la forma de presentación de esclerosis más frecuente en niños; tiene una incidencia de 2.7 por cada 100,000 habitantes, con predilección por la raza caucásica y el sexo femenino con relación de 2.4 a 4.1 por cada varón. El común denominador es la afección a nivel de tejido conectivo, genera una variedad de presentación clínica que va desde placas escleróticas localizadas circunscritas que afectan la piel hasta afecciones más profundas que atacan al tejido muscular y óseo, dejando secuelas estéticas y/o deformidades incapacitantes en el paciente. Objetivo: Presentación de caso y su manejo quirúrgico. Los datos expuestos se obtuvieron del expediente clínico físico y electrónico, entrevista directa con paciente y familiares y seguimiento y valoración de estudios radiográficos, desde Enero de 2012 hasta Noviembre de 2017. Discusión: El tratamiento quirúrgico está indicado cuando las deformidades y contracturas condicionan incapacidad en el paciente. Los mejores resultados se obtendrán una vez que la enfermedad haya dejado de progresar.

Abstract: Introduction: Localized scleroderma is the most common form of sclerosis in children; it has an incidence of 2.7 per 100,000 inhabitants, with a predilection for the Caucasian and female races of 2.4 to 4.1 per male. The common denominator is the connective tissue-level condition, causing a variety of clinical presentation ranging from localized sclerotic circumscribed plaques affecting the skin, to deeper conditions that attack muscle and bone tissue, leaving aesthetic consequences and/or disabling deformities in the patient. Objective: Case presentation and surgical management. The data presented were obtained from the physical and electronic clinical record, direct interview with patients and family members and monitoring and evaluation of radiographic studies, from January 2012 to November 2017. Discussion: Surgical treatment is indicated when deformities and contractures condition incapacity in the patient. The best results will be obtained once the disease has stopped progressing.

Morfea profunda solitaria: Una forma infrecuente de esclerodermia localizada en la infancia. Caso clínico / Solitary morphea profunda: An unusual form of localized scleroderma in childhood. Case report

La morfea profunda solitaria es una forma infrecuente de morfea localizada en la infancia. Se caracteriza clínicamente por la presencia de un área indurada, mal delimitada y asintomática, de localización paraespinal, que no tiende a la progresión ni se asocia con manifestaciones sistémicas. Histológicamente, muestra un engrasamiento e hialinización de las fibras de colágeno dérmico, junto con infiltrados de predominio linfohistiocitario en la dermis reticular y la hipodermis. Se presenta a una paciente de 7 años con una lesión solitaria en la región dorsal media izquierda, cuyos hallazgos clínicos, ecográficos e histológicos fueron compatibles con el diagnóstico de una morfea profunda solitaria.

Solitary morphea profunda is an unusual form of localized scleroderma in childhood. It is characterized by a single, poorly defined and indurate plaque often located on the upper trunk near the spine. Solitary morphea profunda is frequently asymptomatic and shows no associated systemic involvement. Histological examination reveals dense sclerosis of collagen and a marked lymphocytic infiltrate in the reticular dermis and subcutis. We report a 7-year-old girl with a solitary asymptomatic and sclerotic plaque on the back. Clinical, ultrasonographic and histological features were consistent with solitary morphea profunda.

A surgical approach to linear scleroderma using Medpor and dermal fat graft

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.

A Rare Case of Bilateral Frontal Linear Scleroderma (En Coup de Sabre) / 대한피부과학회지

No abstract available.

Concurrence of Circumscribed Morphea and Segmental Vitiligo: A Case Report

Although a few reports have noted the concurrent presentation of morphea and vitiligo at distinctly separate sites in the same patient, it is extremely rare that these two conditions occur at the same sites in a patient. We report the case of a 10-year-old Korean girl with morphea and vitiligo and those lesions occurred at the same sites and progressed simultaneously. An autoimmunity and a cutaneous mosaicism was considered to be involved in such an unique presentation as the pathogenesis is concerned.

Esophageal abnormalities in juvenile localized scleroderma: is it associated with other extracutaneous manifestations? / Anormalidades esofágicas na esclerodermia localizada juvenil: associação com outras manifestações extracutâneas?

Abstract Objective: To assess esophageal involvement (EI) in juvenile localized scleroderma (JLS) population and the possible association between this gastrointestinal manifestation and demographic data, clinical features, laboratory exams, treatments and outcomes. Methods: For a period of 30 years, 5881 patients with rheumatic diseases were followed in our Pediatric Rheumatology Division. EI was defined by the presence of symptoms (solid/liquid dysphagia, heartburn, esophageal regurgitation, nausea/vomiting and epigastralgia) and confirmed by at least one EI exam abnormality: barium contrast radiography, upper gastrointestinal endoscopy and 24-hour esophageal pH-monitoring. Results: JLS was observed in 56/5881 patients (0.9%), mainly linear morphea subtype. EI was observed in 23/56(41%) of JLS patients. Eight(35%) of 23 EI patients with JLS were symptomatic and presented heartburn(5/8), solid and liquid dysphagia(3/8), nausea and epigastralgia(1/8). The frequency of any cumulative extracutaneous manifestations (calcinosis, arthritis/arthralgia, central nervous system, interstitial pneumonitis, mesangial nephritis and/or arrhythmia) was significantly higher in JLS patients with EI compared to those without this complication (56% vs. 24%, p = 0.024). No differences were evidenced in demographic data, JLS subtypes and in each extracutaneous manifestation in both groups (p > 0.05). The frequency of methotrexate use was significantly higher in JLS patients with EI compared to those without (52% vs. 12%, p = 0.002). Autoantibody profile (antinuclear antibodies, anti-SCL-70, rheumatoid factor, anticentromere, anti-cardiolipin, anti-Ro/SSA and anti-La/SSB) was similar in both groups (p > 0.05). Conclusions: Our study demonstrated that EI was frequently observed in JLS patients, mainly in asymptomatic patients with linear subtype. EI occurred in JLS patients with other extracutaneous manifestations and required methotrexate therapy.

Resumo Objetivo: Avaliar o envolvimento do esôfago (EE) na população com esclerodermia localizada juvenil (ELJ) e a possível associação entre essa manifestação gastrointestinal e dados demográficos, características clínicas, exames laboratoriais, tratamentos e desfechos. Métodos: Durante 31 anos, 5.881 pacientes com doenças reumáticas foram acompanhados em nossa Divisão de Reumatologia Pediátrica. O EE foi definido pela presença de sintomas (disfagia para sólidos/líquidos, azia, regurgitação esofágica, náuseas/vômitos e epigastralgia) e confirmado com pelo menos um exame que revelou EE: radiografia contrastada com bário, endoscopia digestiva alta e pHmetria esofágica de 24 horas. Resultados: Observou-se ELJ em 56/5.881 pacientes (0,9%), principalmente do subtipo morfeia linear. O EE foi observado em 23/56 (41%) dos pacientes com ELJ. Oito (35%) dos 23 pacientes com ELJ com EE eram sintomáticos e apresentavam azia (5/8), disfagia para sólidos e líquidos (3/8), náuseas e epigastralgias (1/8). A frequência de quaisquer manifestações extracutâneas cumulativas (calcinose, artrite/artralgia, envolvimento do sistema nervoso central, pneumonite intersticial, nefrite mesangial e/ou arritmias) foi significativamente maior em pacientes com ELJ com EE em comparação com aqueles sem essa complicação (56% vs. 24%, p = 0,024). Não foi evidenciada diferença nos dados demográficos, subtipos de ELJ e quaisquer manifestações extracutâneas entre os grupos (p > 0,05). A frequência de uso de metotrexato foi significativamente maior em pacientes com ELJ com EE em comparação com aqueles sem EE (52% vs. 12%, p = 0,002). O perfil de autoanticorpos (anticorpos antinucleares, anti-SCL-70, fator reumatoide, anticentrômero, anticardiolipina, anti-Ro/SSA e anti-La/SSB) foi semelhante nos dois grupos (p > 0,05). Conclusões: Este estudo demonstrou que o EE foi frequentemente observado em pacientes com ELJ, principalmente naqueles assintomáticos com o subtipo linear da doença. O EE ocorreu em pacientes com ELJ com outras manifestações extracutâneas e exigiu tratamento com metotrexato.

Esclerodermia localizada juvenil: ¿es una enfermedad benigna? / Juvenile localized scleroderma: is it a benign disease?

Resumen Introducción: La esclerodermia localizada juvenil es una enfermedad polimórfica que ocurre con mayor frecuencia en niñas. Se acompaña de morbilidad importante. El compromiso extradérmico es frecuente y se reportan tasas de poliautoinmunidad de hasta 7%. Al momento, se desconocen las características clínicas de los pacientes colombianos con esta enfermedad. Objetivo: Describir las características clínicas, morbilidades y secuelas en pacientes con diagnóstico de esclerodermia localizada juvenil, en múltiples centros de reumatología pediátrica en Colombia. Materiales y métodos: Estudio descriptivo, retrospectivo y multicéntrico. Pacientes con diagnóstico de esclerodermia localizada juvenil con un mínimo de 1 ario de evolución y 6 meses de seguimiento, en 10 centros de reumatología pediátrica mediante revisión de historias clínicas. Resultados: El n = 88. La distribución por género fue: femenino 2,1; masculino 1. Edad promedio al inicio de la enfermedad 7,1 años (0-14). Promedio de duración de la enfermedad al diagnóstico 16,5 meses (1-96). La distribución por subtipos fue morfea circunscrita (32,9%), mixta (31,8%), linear (21,5%, asciende a 55% al incluir formas mixtas con lesiones lineares) generalizada (11,4%) y panesclerótica (2,3%). Se detectaron alteraciones estéticas en el 91%, alteraciones del crecimiento en 41% y compromiso funcional de articulaciones vecinas en 32%. Se presentó compromiso extradérmico en 22,7% y poliautoinmunidad en 12,5%. Conclusiones: La esclerodermia localizada juvenil es una enfermedad polimórfica e impredecible. En la mayoría de los casos el diagnóstico es tardío. La tasa de compromiso extradérmico sugiere que no es una enfermedad limitada a la piel. Un diagnóstico temprano, tratamiento dinámico y seguimiento cercano permiten prevenir y detectar tempranamente complicaciones derivadas de la enfermedad.

Abstract Introduction: Juvenile localized scleroderma is a polymorphic disease. It is more prevalent in girls and has a significant morbidity. Extra-cutaneous involvement is common, and polyautoimmunity can reach 7%. The clinical characteristics of this disease in Colombian patients are currently unknown. Objective: To describe the clinical characteristics, morbidity and outcomes in patients with juvenile localized scleroderma in different paediatric rheumatology clinics in Colombia. Materials and methods: A descriptive, retrospective, and multicentre study was conducted on patients with juvenile localized scleroderma with a minimum of 1 year of disease onset, and 6 months of follow-up in 10 paediatric rheumatology clinics. Results: The study included 88 patients, with a gender distribution of female 2.1: male 1. Mean age at disease onset was 7.1 years (0-14). Mean disease duration at diagnosis was 16.5 months (1-96). Sub-type distribution was, circumscribed (32.9%), mixed (31.8%), and linear (21.5%, that increased to 55% if linear lesions of the mixed subtype are included), generalised (11.4%), and pan-sclerotic morphea (2.3%). Aesthetic compromise was detected in 91%, with growth disturbances in 41%, and joint functional compromise in 32%. Extra-cutaneous involvement occurred in 22.7% and polyautoimmunity in 12.5%. Conclusions: Juvenile localized scleroderma is a polymorphic and unpredictable disease. It diagnosed late in most of the cases. Extra-cutaneous involvement suggests that is not a disease limited to skin. An early diagnosis, a dynamic treatment and a close follow-up helps to prevent, and detect, complications arising from the disease.

Periostin in Mature Stage Localized Scleroderma

BACKGROUND: Periostin is a novel matricellular protein expressed in many tissues, including bone, periodontal ligament, and skin. Although its expression is prominent in various fibrotic conditions, studies of periostin in localized scleroderma are rare. OBJECTIVE: To investigate the expression of periostin and other molecules in localized scleroderma. METHODS: A retrospective study of 14 patients with confirmed mature stage localized scleroderma was undertaken. Fourteen age-matched and biopsy site-matched subjects with normal skin were included as controls. Collagen fiber deposition, periostin, procollagen, transforming growth factor-β, and matrix metalloproteinase (MMP)-1 expression were assessed and compared between the two groups. Co-localization of α-smooth muscle actin and periostin was evaluated using confocal microscopy. RESULTS: Periostin was predominantly expressed along the dermo-epidermal junction in the controls. Conversely, patients with localized scleroderma demonstrated increased collagen fiber deposition and periostin expression that was more widely distributed along the entire dermis. MMP-1 staining showed increased expression in the epidermis and dermis of patients compared to scanty expression in the controls. A semi-quantitative evaluation showed a higher proportion of excessive collagen bundle deposition (57.1% vs. 7.1%, p=0.013), diffuse periostin positivity (42.9% vs. 0%, p=0.016), and moderate MMP-1 positivity (71.4% vs. 7.1%, p=0.001) in patients than in the controls. CONCLUSION: Compared to the controls, patients with localized scleroderma had enhanced periostin expression corresponding to increased collagen fiber deposition and unexpected overexpression of MMP-1. The results of this human in vivo study may implicate the pathogenesis of localized scleroderma.