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.

Morfea en edad pediátrica / Morphea in childhood

La morfea es una rara enfermedad fibrosante de piel y tejidos subyacentes que aparece a cualquier edad, con más frecuencia en mujeres. Es de etiología autoinmune, benigna, con remisión espontánea o recidivante crónica; y se caracteriza por la aparición de áreas de piel esclerosadas, únicas o múltiples, redondeadas o lineales, asintomáticas, de evolución crónica y sin afección sistémica. Se presentó un paciente en edad pediátrica con esta enfermedad, cuya clínica, examen diagnóstico e histología fueron compatibles con la enfermedad de morfea lineal que, a pesar del retraso en su diagnóstico una vez iniciado el tratamiento inmunosupresor presentó una evolución favorable, simultáneamente se le realizó fisioterapia.

Morphea is a rare fibrosing disease of the skin and underlying tissues which is more common in women and can appear at any age. It is an autoimmune and benign disease with spontaneous remission or chronic relapsing course; it is characterized by the appearance of single or multiple, rounded or linear, asymptomatic, chronically evolving sclerosed skin areas without systemic involvement. We present a female pediatric patient with this disease, whose symptoms, diagnostic examination and histology were compatible with linear morphea that, despite the delay in its diagnosis, she had a favorable evolution once immunosuppressive treatment was started, and physiotherapy was simultaneously performed.

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.

Esclerodermia localizada en escolar de 10 años / Localized scleroderma in a 10-year-old schoolgirl

Dentro del grupo de enfermedades reumáticas la esclerodermia es una de las de menor frecuencia de presentación, por lo que muchos autores la consideran una enfermedad rara. Aunque afecta predominantemente a pacientes adultos, en ocasiones se presenta en edades pediátricas y sus formas localizadas son las manifestaciones más frecuentes a estas edades. El objetivo del presente reporte es presentar el caso de una escolar de 10 años de edad, con un cuadro de lesión en la piel de 3 años de evolución a la cual se le diagnostica, mediante las características clínicas y los resultados de estudios anatomopatológicos una esclerodermia localizada profunda. En la actualidad la paciente se mantiene en régimen de seguimiento multidisciplinario. Este reporte de caso es importante para compartir con la comunidad médica los elementos básicos relacionados con el diagnóstico y tratamiento de esta enfermedad, como alternativa a la reducción de las complicaciones que genera(AU)

Within the group of rheumatic diseases, scleroderma is one of those with the lowest frequency of presentation; being considered a rare disease by many authors. Although it has a predominance of affectation in adult patients, it sometimes occurs in pediatric ages, its localized forms being the most frequent forms of presentation. The objective of this report is to present the case of a 10-year-old schoolgirl, with a 3-year history of skin lesions, which was diagnosed, through clinical characteristics and results of pathological studies, as deep localized scleroderma. The case report is considered important to share with the medical community the basic elements related to the diagnosis and treatment of this disease, as an alternative to reducing the complications it generates(AU)

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

Reconstrução de hemiatrofia facial com hidroxiapatita de cálcio: relato de uma técnica segura e minimamente invasiva / Reconstruction of facial hemiatrophy using calcium hydroxylapatite filler: report of a safe and minimally invasive technique

Introdução: a hemiatrofia facial progressiva, também conhecida como síndrome de Parry Romberg, é uma forma rara de esclerodermia, cujo manejo de sequelas é desafiador. Objetivo: diante desse desafio, o objetivo deste estudo foi avaliar pela primeira vez na literatura a eficácia do preenchimento da hidroxiapatita de cálcio (CaHa) na reconstrução da mandíbula de um paciente com síndrome de Parry Romberg. Relato do caso: paciente do sexo feminino, 15 anos, com atrofia progressiva do lado direito da face por síndrome de Parry Romberg. Após o controle da doença, a principal queixa da paciente era assimetria facial, principalmente na região mandibular. Discussão: a CaHa é um preenchedor injetável biocompatível, que é gradualmente reabsorvido e substituído por estroma fibrovascular, formado principalmente por novo colágeno, em um processo que ocorre sem qualquer reação imunológica. Este perfil de segurança torna a CaHa uma boa escolha para a correção de sequelas de esclerodermia estável. Conclusão: este relato permite concluir que a biocompatibilidade do preenchimento de CaHa e a adequação para correção da mandíbula também são aplicáveis em procedimentos reconstrutivos para esclerodermia estável, de forma segura e minimamente invasiva, com ótimos resultados estéticos. O procedimento deve ser programado caso a caso, e um acompanhamento regular também é recomendado.

Introduction: Progressive Facial Hemiatrophy, also known as Parry Romberg Syndrome, is a rare form of linear scleroderma. The management of facial atrophy sequelae is challenging. Objective: This study aims to evaluate for the first time in literature the effectiveness of the calcium hydroxylapatite (CaHa) filler in the jawline reshaping of a patient with Parry Romberg Syndrome. Case report: A 15-year-old woman with progressive atrophy of the right side of the face due to Parry Romberg Syndrome. After disease control, the patient's main complaint was facial asymmetry, mainly in the jawline region. Discussion: CaHa is a biocompatible injectable filler that is gradually resorbed and replaced by fibrovascular stroma, mainly formed for new collagen, in a process that occurs without any immunological reaction. This safety profile makes CaHa a good choice for correcting stable scleroderma defects. Conclusion: This report concludes that CaHa filler biocompatibility and suitability for the jawline correction are also applicable in reconstructive procedures for stable scleroderma, safely and minimally invasively, with optimal aesthetic results. The method must be programmed case-by-case, and a regular follow-up is also recommended.

Esclerodermia cutánea localizada (Morfea): reporte de caso

RESUMEN La esclerodermia cutánea localizada es una enfermedad crónica del tejido conectivo, etiología desconocida, caracterizada por áreas de piel induradas. Existen varias formas. La Morfea es una enfermedad rara con incidencia de 0,3-3 casos por 100.000 habitantes / año. Más común en mujeres, proporción 4:1 mujer/hombre. Mujer, 21 años acude al Servicio de Dermatología del Hospital de Clínicas por cuadro de 3 años de evolución de mancha roja en cadera de lado derecho que luego se vuelve marrón, aparece luego otra lesión similar en muslo y rodilla derechos con misma evolución, sin desencadenante aparente ni síntomas acompañantes. Al examen físico se observa varias placas hipocrómicas algunas con bordes eritematosos, entre 2-3 cm, límites netos y bordes irregulares distribuidos en muslo derecho. Placas hipercrómicas induradas entre 1-6 cm de diámetro, límites netos, bordes regulares en cadera y muslo derechos, y brazo izquierdo. Piel difícil de plegar. Biopsia de piel compatible con Morfea. Recibe tratamiento con hidroxicloroquina, metotrexate, corticoides tópicos, vitamina A, C, E con respuesta y evolución favorable. Esclerodermia localizada aparece en adultos entre 40- 50 años, en comparación con paciente que afectó segunda década de vida. Tronco como localización más frecuente, característica de la paciente, además en miembros superiores e inferiores. Artralgias se presentan en 44% de casos, coincidentes con la paciente. Aumento del factor reumatoideo, eosinofilia, VSG guían hacia diagnóstico de Morfea en fase activa, no apreciables en el caso. Tratamiento con metotrexate como inmunosupresor es la terapéutica con evolución favorable, así como indican estudios, complementados con hidroxicloroquina y vitaminas A y E.

ABSTRACT Localized scleroderma is a chronic connective tissue disease, unknown etiology, characterized by areas of indurated skin. There are several types. It is a rare disease with an incidence of 0.3-3 cases per 100,000 inhabitants / year. More common in Caucasian women, with a 2-4:1 female/male ratio. Woman, 21 years of age goes to the Dermatology Department of the Hospital de Clínicas for the 3-year history of the red woman on the right who later turns brown, a similar lesion appears on the right leg, apparently not trigger or symptoms companions. On physical examination, several hypochromic plaques were observed, some with erythematous borders, between 2-3 cm, net boundaries and irregular borders distributed in the right thigh. Indurated hyperchromic plates between 1 and 6 cm in diameter, net boundaries, regular edges in red and right thighs, and left side. Skin difficult to fold. Skin biopsy compatible with Morphea. Treated with hydroxychloroquine, methotrexate, topical corticosteroids, vitamin A, C, E with response and favorable evolution. Localized scleroderma appears in adults between 40-50 years, in comparison with the patient who affected the second decade of life. The trunk as the most frequent location, found in the patient, also in the upper and lower limbs. Join pains are presented in 44% of cases. Increase of the rheumatoid factor, eosinophilia, VSG guide to the diagnosis of Morphea in active phase, not appreciable in the case. Treatment with methotrexate as an immunosuppressant is the appropriate therapy, as indicated by studies, supplemented with hydroxychloroquine and vitamins A and E.

Taxane-induced scleroderma: report of two cases / Esclerodermia inducida por taxanos: informe de dos casos

ABSTRACT Taxanes are a class of chemotherapeutic agents with common associated dermatologic adverse events, such as skin hyperpigmentation, hand-foot skin syndrome, paronychia and onycholysis. Taxane-induced scleroderma is rare. Few cases with skin findings resembling systemic sclerosis, have been reported after the administration of these agents. We report two cases with stage IV breast cancer, aged 66 and 71 years, who developed sclerodermic skin lesions in their extremities after starting treatment with placlitaxel and nabplaclitaxel respectively.

Los taxanos son agentes quimioterapéuticos cuyo uso se asocia a problemas dermatológicos tales como hiperpigmentación, síndrome manos-pies, paroniquia y onicolisis. La esclerodermia inducida por taxanos es rara, con pocos casos informados en la literatura. Informamos los casos de dos pacientes con cáncer de mama en estado IV, de 66 y 71 años, que desarrollaron lesiones esclerodérmicas en las extremidades después de ser tratadas con placlitaxel y nabplaclitaxel, respectivamente.

Morfea panesclerótica incapacitante / Disabling panesclerotic morphea

La morfea panesclerótica incapacitante es una forma severa y rara de esclerodermia localizada, es una enfermedad inflamatoria e inmunomediada de etiología desconocida. Evoluciona con endurecimiento generalizado de la piel por la esclerosis progresiva de la dermis y tejido celular subcutáneo y el deterioro de las articulaciones, huesos, fascia y músculos. La respuesta terapéutica es pobre y la progresión de la enfermedad genera discapacidad física, disminución de la calidad de vida y complicaciones fatales. Presentamos un caso de un paciente que inició los primeros síntomas a los 7 años de edad, siendo diagnosticado con morfea panesclerótica incapacitante conforme evolución clínica e histología, evolucionando con empeoramiento clínico progresivo independiente de las terapias instituidas (AU)

Disabling panesclerotic morphea is a rare and severe form of localized scleroderma, an inflammatory and immune-mediated disease of unknown etiology. It evolves with generalized hardening of the skin due to progressive sclerosis of the dermis and subcutaneous tissue and involvement of joints, bones, fascias and muscles. The therapeutic response is poor and the progression of the disease leads to physical disability, decreased quality of life and fatal complications. We present a case of a patient whose first symptoms started at 7 years of age and was further diagnosed with disabling panesclerotic morphea according to clinical evolution and histology, evolving with progressive clinical worsening regardless of the therapies instituted (AU)

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.

Endothelial lesion and complement activation in patients with Scleroderma Renal Crisis / Lesão endotelial e ativação do complemento em pacientes com crise renal esclerodérmica

Abstract In kidney biopsies reviews, scleroderma renal crisis (SRC) is characterized by vascular endothelial injuries, C4d deposits on peritubular vessels, and acute and chronic injuries coexisting on the same biopsy. The clinical signs of thrombotic microangiopathy (TMA) are described in systemic sclerosis (SSc), nevertheless, it has not been related to acute injuries described on kidney biopsies. We report a case of SRC in a patient with scleroderma-dermatomyositis overlap syndrome, which also showed clinical and histopathological data of TMA. On fundus examination, a severe acute hypertensive retinopathy was found. The kidney biopsy showed severe endothelial damage with widening of mucoid cells at the level of the intima, focal concentric proliferation on most small arterioles, and C3, C4d, and IgM deposits along the capillary walls. The genetic study of complement only showed the presence of membrane cofactor protein (MCP) risk haplotypes, without other genetic complement disorders. We understand that in a patient with TMA and SSc, the kidney damage would be fundamentally endothelial and of an acute type; moreover, we would observe clear evidence of complement activation. Once further studies correlate clinical-analytical data with anatomopathological studies, it is likely that we will be forced to redefine the SRC concept, focusing on the relationship between acute endothelial damage and complement activation.

Resumo Nas revisões de biópsias renais, a crise renal esclerodérmica (CRE) é caracterizada por lesões endoteliais vasculares, depósitos de C4d em vasos peritubulares e lesões agudas e crônicas que coexistem na mesma biópsia. Os sinais clínicos de microangiopatia trombótica (MAT) são descritos na esclerose sistêmica (ES); no entanto, não foram relacionados às lesões agudas descritas nas biópsias renais. Relatamos um caso de CRE em um paciente com síndrome de superposição de esclerodermia-dermatomiosite, que também apresentou dados clínicos e histopatológicos de MAT. No exame de fundo do olho, foi encontrada uma retinopatia hipertensiva aguda grave. A biópsia renal mostrou lesão endotelial grave com alargamento das células mucoides ao nível da íntima, proliferação concêntrica focal na maioria das pequenas arteríolas e depósitos de C3, C4d e IgM ao longo das paredes dos capilares. O estudo genético do complemento mostrou apenas a presença de haplótipos de risco da proteína cofator de membrana (PCM), sem outros distúrbios genéticos do complemento. Entendemos que em um paciente com MAT e ES, o dano renal seria fundamentalmente endotelial e do tipo agudo; além disso, observaríamos evidências claras de ativação do complemento. Uma vez que novos estudos correlacionam dados clínico-analíticos com estudos anatomopatológicos, é provável que sejamos forçados a redefinir o conceito de CRE, enfocando a relação entre dano endotelial agudo e ativação do complemento.

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.

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.

Morfea mamaria. Presentación de un caso / Breast Morphea. Case Presentation

La esclerodermia localizada es la forma localizada cutánea de esclerodermia, caracterizada por una fibrosis que se manifiesta en forma de placas o bandas cutáneas escleróticas infiltradas al tacto. La prevalencia se estima en aproximadamente 1-9/100.000, por tal razón se presenta el caso de una paciente con manifestaciones de una esclerodermia cutánea localizada cuya lesión apareció en una mama dos meses antes de asistir a consulta en su área de salud. La principal lesión que presentaba era una placa áspera, que no se dejaba pellizcar, de color carmelita, bordes irregulares, de aproximadamente seis centímetros de diámetro, localizada en mitad inferior de la mama derecha, incluyendo pezón y areola. Se detectaron las alteraciones histológicas propias de la enfermedad de base lo que corroboró el diagnóstico planteado y se descartó mediante otros exámenes cualquier presencia de proceso maligno.

Located scleroderma in the located for of cutaneous scleroderma, characterized by a fibrosis which shows in plaque form of cutaneous sclerotic bands infiltrated to touch. The prevalence is estimated in approximately 1-9/100.000, this is the reason why a case of a patient is presented with signs of a located cutaneous scleroderma. The lesion presented in a breast two months before visiting the doctor in her area. The main lesion was a tough plaque, which was not possible to pinch, brown colored, irregular edges, of approximately six centimeters, located in the mid-inferior right breast, including the nipple and areola. Histological changes which characterize the base disease were found, which corroborated the diagnosis and any malignant process was ruled out by other performed exams.

Consideraciones bucales en el tratamiento de pacientes con esclerodermia: reporte de dos casos / Bucal considerations in the treatment of patients with scleroderma: Report of two cases

La esclerodermia pertenece a un grupo de enfermedades autoinmunes del tejido conectivo, que produce: inflamación, disfunción vascular y fibrosis excesiva del tejido conectivo de soporte de la piel y los órganos viscerales. A nivel bucal se evidencian afecciones como xerostomía, microstomía, caries y enfermedad periodontal. El tratamiento odontológico requiere un manejo integral por parte de los profesionales, que comprenda las patologías orales presentes y los síntomas permanentes característicos de la enfermedad sistémica de base. El objetivo de este artículo es presentar dos casos de esclerodermia resaltando sus manifestaciones orales presentes.

Scleroderma belongs to a group of autoimmune connective tissue diseases that causes inflammation, vascular dysfunction and excessive fibrosis of the connective tissue supporting the skin and visceral organs. A level oral conditions such as xerostomia, microstomia, caries and periodontal disease are evident. Dental treatment requires a comprehensive management by professionals who understand oral pathologies and permanent characteristic symptoms of systemic disease. The aim of this paper is to present two cases of scleroderma highlighting present oral manifestations.

Morfea o esclerodermia localizada juvenil: caso clínico / Morphea or juvenile localised scleroderma: Case report

Introducción: La morfea o esclerodermia localizada juvenil (ELJ) es una enfermedad autoinmune, inflamatoria, crónica, lenta y progresiva del tejido conectivo, de causa desconocida, que afecta preferentemente la piel y los tejidos subyacentes. Objetivos: Comunicar un caso de esclerodermia localizada juvenil en una escolar, y contribuir a un diagnóstico y tratamiento oportuno de esta patología. Caso clínico: Niña de 8 años con placas induradas hipopigmentadas, de distribución lineal en la extremidad superior derecha de 2 años de evolución y placas induradas hiperpigmentadas de textura acartonada, con áreas de piel adelgazada, blanquecina y edema en la pierna y el tobillo. Los elementos clínicos y los exámenes de apoyo diagnóstico, incluyendo la histología, fueron compatibles con ELJ lineal, panesclerótica. Se inició tratamiento inmunosupresor y simultáneamente realizó fisioterapia y terapia ocupacional intensivas. Conclusiones: Presentamos un caso de ELJ de tipo lineal y panesclerótico, en el que hubo retraso de 2 años en el diagnóstico, no obstante la respuesta al tratamiento inmunosupresor fue favorable según lo esperado.

Introduction: Morphea or juvenile localised scleroderma (JLS) is an autoimmune, inflammatory, chronic, slowly progressive connective tissue disease of unknown cause that preferably affects skin and underlying tissues. Objective: To report a case of Juvenil Localised scleroderma in an 8-year old girl, contributing to an early diagnosis and treatment. Clinical case: The case is presented of an 8 year-old girl who presented with indurated hypopigmented plaques, of linear distribution in the right upper extremity of two years onset, together with papery texture hyperpigmented indurated plaques with whitish areas of thinned skin in right lower extremity, and leg and ankle swelling. The clinical features and diagnostic tests, including histology were compatible with linear and pansclerotic JLS. She started with immunosuppressive therapy, physiotherapy, and occupational therapy. Conclusions: We report a case of linear and pansclerotic ELJ type, in which there was a 2 year delay in diagnosis, however the response to treatment was positive as expected.

Esclerodermia localizada: serie de casos en un hospital general y revisión de la literatura / Localized scleroderma: cases report in a general hospital and literature review

La esclerodermia localizada o morfea es una entidad inflamatoria que se caracteriza por fibrosis de la piel y tejido subyacente, se manifiesta clínicamente por zonas induradas y delimitadas con un halo eritematovioláceo, que luego se tornan hipopigmentadas o hiperpigmentadas. Se recolectaron 11 casos de esclerodermia localizada en el periodo de 1990 a 2014 en el Hospital Nacional Dos de Mayo de los cuales se excluyeron 4 por no presentar registros fotográficos. De Los 7 casos estudiados, uno correspondió a morfea circunscrita; cinco a morfea lineal, dentro de Los cuales se incluyeron dos casos de síndrome de Parry-Romberg que fueron seguidos desde el inicio de su enfermedad; una a morfea mixta y una a morfea panesclerótica. Correspondieron al sexo femenino 71 % de todos los casos, el rango de edad de los pacientes fue de 10 a 23 años y el tiempo promedio de evolución de su enfermedad desde el momento del diagnóstico fue de 3,9 años. Cinco (5) de Los pacientes presentaron evolución favorable, con remisión parcial de la enfermedad, y dos (2) pacientes, con síndrome de Parry-Romberg, fallecieron por complicaciones asociadas a la afectación neurológica.

Morphea or localized scleroderma is an inflammatory entity characterized by fibrosis of the skin and underlying tissue, is clinically manifested by areas thickened and delimited with a halo erythematous becoming then hypopigmented and hyperpigmented. Eleven cases of scleroderma in the period of 1990 to 2014 in the Hospital Nacional Dos de Mayo from which we excluded 4 by not showing photographic records were collected. Of the 7 cases studied, one corresponded to circumscribed morphea; five a linear morphea, within which included two cases of Parry-Romberg syndrome who were followed from the beginning of his illness; a mixed morphea and one to pansclerotic morphea; 71 % of all cases corresponded to the female sex, the age of the patients ranged from 10 to 23 years and the average time of evolution of his disease from the time of diagnosis was 3,9 years. Five of the patients presented a positive evolution with partial remission of the disease and two patients, with Parry-Romberg syndrome, died of complications associated with the neurological compromise.