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

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)

Morfea superficial / Superficial morphea

La morfea superficial es una variante rara de morfea que se distingue de la clásica tanto en la clínica como en la histopatología. Se caracteriza por máculas hipopigmentadas o hiperpigmentadas, con mínima o ninguna induración, sin síntomas asociados, contractura ni atrofia. En la histopatología, se observa un compromiso limitado a las fibras colágenas en la dermis reticular superficial. Se comunica el caso de una paciente con diagnóstico de morfea superficial tratada con fototerapia ultravioleta B y metotrexato.

Superficial morphea is a rare variant of morphea that is distinguished from the classic variant both clinically and histopathologically. It is characterized by hypo or hyperpigmented patches with minimal to no induration, without associated symptoms, without contracture or atrophy. At the histopathological level, a limited involvement of collagen fibers is observed at the level of the uperficial reticular dermis. The case of a patient with superficial morphea treated with ultraviolet B phototherapy and methotrexate is presented.

Morfeas con manifestaciones cefálicas / Morpheas with cephalic manifestations

Introducción: La hemiatrofia facial progresiva (HFP) o síndrome de Parry-Romberg y la morfea en golpe de sable (MGS) forman parte de las morfeas lineales cefálicas. Son enfermedades inflamatorias crónicas de la piel y tejidos subyacentes, que se caracterizan por esclerosis y atrofia cutánea. Objetivos: Describir las características clínicas, manifestaciones asociadas, histología, laboratorio, estudios complementarios y tratamientos instaurados. Diseño: Estudio retrospectivo descriptivo. Materiales y métodos: Se revisaron las historias clínicas de pacientes con morfea evaluados en el Sector Colagenopatías desde julio de 2010 hasta diciembre de 2016. Resultados: De 56 pacientes, 11 cumplieron con los criterios de inclusión, 7 con diagnóstico de HFP, 2 con MGS y 2 con ambas patologías. El 64% fueron mujeres. Las manifestaciones extracutáneas se presentaron en el 64% de los casos. El tratamiento utilizado en todos los pacientes fue el metotrexato, asociado o no, al uso de corticosteroides sistémicos. Conclusiones: La mayoría de nuestros resultados concuerdan con la bibliografía consultada, excepto las manifestaciones asociadas. Destacamos el tratamiento asociado de metotrexato y pulsos de corticosteroides intravenosos con resultados satisfactorios y bien tolerado. (AU)

Introduction: Progressive facial hemiatrophy (PFH) or Parry-Romberg Syndrome and morphea en coup de sabre are cephalic linear morpheas. They are chronics inflammatories diseases of the skin and underlying tissues, characterized by cutaneous atrophy and sclerosis. Objectives: To describe clinical features, associated extracutaneous manifestations, histological and laboratory findings, imaging and diagnostic modalities and treatments established in patients with diagnosis of HFP, MGS, or both, evaluated in our Department. Design: Retrospective descriptive study. Materials and methods: We included medical histories of patients diagnosed with morphea evaluated in Collagenopathy Sector from July 2010 up to December 2016. Results: Of 56 patients, 11 met the inclusion criteria, 7 with diagnosis of PFH, 2 with morphea en coup de sabre and 2 with both pathologies. 64% were women. 64% showed extracutaneous manifestations. The treatment used in all of the patients was methotrexate, associated or not, with the use of systemic corticosteroids. Conclusions: Most of our results agree with the bibliography consulted, with the exception of the associated manifestations. We emphasize the associated treatment of methotrexate and intravenous corticosteroid pulses with satisfactory results and well tolerated. (AU)

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.

Scleroderma en coup de sabre treated with polymethylmethacrylate - Case report

Abstract The scleroderma en coup de sabre is a variant of localized scleroderma that occurs preferentially in children. The disease progresses with a proliferative and inflammatory phase and later atrophy and residual deformity, which are treated with surgical techniques such as injectable fillers, transplanted or autologous fat grafting and resection of the lesion. Among the most widely used fillers is hyaluronic acid. However, there are limitations that motivate the search for alternatives, such as polymethylmethacrylate, a permanent filler that is biocompatible, non-toxic, non-mutagenic and immunologically inert. In order to illustrate its application, a case of scleroderma en coup de sabre in a 17-year-old patient, who was treated with polymethylmethacrylate with excellent aesthetic results, is reported.

Morfeia generalizada em uma criança com ictiose arlequim, uma associação rara / Generalized morphea in a child with harlequin ichthyosis: a rare association

Resumo Introdução Ictiose arlequim é uma doença cutânea congênita grave, autossômica e rara, caracterizada por ressecamento excessivo da pele e hiperqueratose. A associação de ictiose com esclerose sistêmica foi descrita em apenas três crianças. Ainda não foi descrito nenhum paciente com morfeia generalizada (MG) associada à ictiose arlequim. Relato de caso: Menina de quatro anos e seis meses de idade com diagnóstico de ictiose arlequim baseado em espessamento cutâneo difuso, com fissuras, descamação, eritema e sangramento da lesão desde as primeiras horas de vida. A paciente foi tratada com acitretina (1,0 mg/kg/dia) e creme emoliente. Aos três anos e nove meses, desenvolveu contraturas musculares com dor à movimentação e limitação nos cotovelos e joelhos e placas esclerodérmicas difusas no abdômen, nas costas, na região suprapúbica e nas extremidades inferiores. A biópsia de pele mostrou epiderme retificada e hiperqueratose leve, derme reticular com linfócitos, infiltrado mononuclear perivascular e perianexial e esclerose da derme reticular e glândula sudorípara rodeada por um tecido colágeno denso, compatível com esclerodermia. A paciente preencheu os critérios para o subtipo MG. Metotrexato e prednisona foram introduzidos. Aos quatro anos e três meses, apresentou novas lesões esclerodérmicas, associando-se azatioprina à terapêutica anterior, sem resposta após dois meses. Discussão: Um caso de ictiose arlequim associada à MG foi descrito. O tratamento dessas duas condições é um desafio e requer uma equipe multidisciplinar.

Abstract Introduction: Harlequin ichthyosis (HI) is a severe and rare hereditary congenital skin disorder characterized by excessive dryness, ectropion and eclabion. The association of ichthyosis with systemic sclerosis has been described in only three children. No patient with generalized morphea (GM) associated with harlequin ichthyosis was described. Case report: A 4-years and 6-months girl, diagnosed with harlequin ichthyosis based on diffuse cutaneous thickening, scaling, erythema, ectropion and eclabium since the first hours of birth was described. She was treated with acitretin (1.0 mg/kg/day) and emollient cream. At 3 years and 9 months, she developed muscle contractures with pain on motion and limitation in elbows and knees, and diffuse sclerodermic plaques on the abdomen, back, suprapubic area and lower limbs. Skin biopsy showed rectified epidermis and mild hyperorthokeratosis, reticular dermis with perivascular and periadnexal infiltrates of lymphocytes and mononuclear cells, and reticular dermis and sweat gland sclerosis surrounded by a dense collagen tissue, compatible with scleroderma. The patient fulfilled the GM subtype criteria. Methotrexate and prednisone were introduced. At 4 years and 3 months, new scleroderma lesions occurred and azathioprine was associated with previous therapy, with no apparent changes after two months. Discussion: A case of harlequin ichthyosis associated with a GM was reported. The treatment of these two conditions is a challenge and requires a multidisciplinary team.

Presentación atípica de morfea tipo malformación vascular símil con síndrome Parry-Romberg secundario / Atypical presentation of vascular malformation morphea simile Parry-Romberg syndrome secondary

La Morfea es una forma de presentación clínica de la esclerodermia localizada, que generalmente se manifiesta como una placa eritematosa con un anillo lila que evoluciona a placa atrófica. Existen presentaciones atípicas de morfea en que al inicio la piel afectada simula ser una malformación vascular tipo nevus flameus o mancha en vino de oporto. El Síndrome Parry-Romberg corresponde a una morfea localizada que se caracteriza por hemiatrofia facial que afecta la funcionalidad de la cara y que puede comprometer piel, tejido muscular y hueso. El objetivo de este artículo es presentar, por medio de un caso clínico, una entidad rara de morfea que al inicio simula ser un nevusflameus. El nevus flameus adquirido es raro y requiere tiempo para que se inicien los cambios escleróticos. Se presenta el caso de un niño de 8 años que consultó por un cuadro atípico sospechoso de nevus flameus y que al cabo de 3 años evolucionó como una hemiatrofia facial progresiva. Los pacientes con diagnóstico de nevus flameus adquirido deberían monitorizarse en busca de signos de evolución a morfea y si la ubicación es en la cara siempre debe sospecharse un Síndrome Parry-Romberg para el inicio temprano de terapia y disminuir las consecuencias asociadas.

Morphea is a clinical presentation of the localized scleroderma, which usually manifests as an erythematous plaque with a purple halo that evolves to an atrophic plaque. There are atypical presentations of the morphea that, at the beginning, the affected skin simulates being a vascular malformation port wine stain simil. The Parry-Romberg Syndrome corresponds to a localized morphea that characterizes for showing a facial hemiatrophy that affects the facial functionality and may compromise the skin, muscular tissue and bones. The objective of this paper is to present, through a clinical case, a rare entity of the morphea that at the beginning simulates being a port wine stain. The acquired port wine stain is rare and requires some time to show sclerotic changes. A clinical case of an 8 years old patient that consulted for a suspicion of an atypical clinical picture of port wine stain and that after 3 years evolved in a progressive facial hemiatrophy is presented. The patients with an acquired port wine stain diagnosis should be monitored to find signs of an evolution to morphea and if it is located on the face there should always be a suspicion of a Parry Romberg syndrome in order to start earlier the therapy and reduce the associated consequences.

Tratamiento de morfea a propósito de tres casos / Treatment for morphea: report of three cases

La morfea es una enfermedad cutánea crónica caracterizada por el depósito de colágeno en dermis o tejidos subcutáneos. Existen variados tratamientos, tanto tópicos como sistémicos, que han sido utilizados en pacientes con morfea. Se presentan tres casos de pacientes con escleroderma localizado que fueron manejados con terapia tópica y metotrexato con buenos resultados. Ya que la morfea es una enfermedad poco común hacen falta mayores estudios y de mejor calidad para determinar terapias que sean beneficiosas para nuestros pacientes.

Localized morphea is a chronic skin disorder characterized by the deposit of collagen in dermis or subcutaneous fat. There are numerous treatments for morphea, which can be divided in topical and systemic. We present 3 cases of patients with localized scleroderma that where treated with topical therapy and methotrexate with good results. Morphea is a rare disease and it is necessary to make bigger studies and with better quality to determine which therapies are beneficial for our patients.

Esclerodermia lineal en coup de sabre y síndrome de Parry Romberg: estudio retrospectivo en un Hospital Pediátrico

La esclerodermia lineal en “coup de sabre” (ELCS) consiste en una lesión lineal esclerosada, que compromete la región frontal y el cuero cabelludo dando el aspecto de un “golpe de sable”. El síndrome de Parry Romberg (SPR) se caracteriza por atrofia unilateral de la piel, tejidos subcutáneos y estructuras óseas subyacentes de la cara. El ELCS así como también es SPR han sido asociados a trastornos autoinmunes, oculares odontológicos y neurológicos. Aún existen controversias acerca de si estas entidades son procesos independientes o forman parte de un mismo espectro de manifestaciones clínicas. Objetivos: 1. Describir las características clínicas de los pacientes con diagnóstico de ELCS y/o SPR, evaluados en nuestro servicio desde agosto de 1987 hasta agosto de 2008. 2. Enumerar las asociaciones cutáneas y extracutáneas y complicaciones presentadas. 3. Describir los tratamientos instaurados y la evolución de estos pacientes. 4. Comparar ambas patologías con el fin identificar si son entidades independientes o representan distintos estadios clínicos de una misma enfermedad. Resultados: Se seleccionaron 31 pacientes, 55% mujeres y 45% varones. El 55% presentaron ECLS, 26% SPR y el 19% restante ambos diagnósticos simultáneamente. Durante el seguimiento se observó la aparición de signos de esclerosis en un paciente con SPR (12,5%) y de atrofia en 6 pacientes (35%) con ELCS. El 41% de los pacientes con ELCS , el 50% con SPR y el 50% de los que presentaban ambas patologías presentaron alteraciones neurológicas. Las manifestaciones oftalmológicas comprometieron al 41%, 83% y 40% de los pacientes respectivamente. Conclusión: observamos que la ELCS y SPR comparten características clínicas y alteraciones extracutáneas asociadas, siendo frecuentemente imposible diferenciarlas, por lo que consideramos a ambas entidades como manifestaciones clínicas diferentes de un único proceso.

[Localized scleroderma: a retrospective study. about 92 cases]

Sclerodermas are rare affections which can be located or generalized Localized form is the most frequent. The purpose of this study was to describe epidemiologic, clinics, biological, immunological, therapeutic, evolutionary characteristics of the localized scleroderma through a personal series and the data of the literature We have performed a retrospective study on all patients followed in the department of dermatology of the Hospital Charles Nicole during 14]ears period. Our study was about 92 cases of localized scleroderma [73 were females and 19 males]. The mean age was 35 years [between 2 and 72 years]. The majority of localised sclerodermas [66 2%of the cases] appeared before 40 years with a maximum of frequency between 10 and 30 years [41,6%]. Only 11.9%of the cases were observed before 10 years. They were 51 cases [55%] of morphea, 35 cases [38%] of scleroderma in bands including 32 linear scleroderma and 3 scleroderma en coup de sabre, 5 cases [5,5%] of generalized morphea and 1 case [0,15%] of deep morphea. Average therapeutic was specified among 63 patients [87%], and the evolution could be appreciated among 45 patients. The epidemiologic data observed in our series are comparable with those reported in the literature. Therapeutic difficulties and risks of functional after-effects, particular in scleroderma in bands, remain the principal concern for all the authors

Combined therapy of interferon alpha. 2b with cyclosporine and prednisolone in scleroderma versus methotrexate and prednisolone

Scleroderma is a rare connective tissue disease characterized by widespread small vessels obliteration and fibrosis of the skin and multiple internal organs. No therapy is of proven value in scleroderma. To evaluate the value of combination of interferon alpha. 2b, cyclosporine and small dose of Prednisolone in the treatment of scleroderma. 46 patients with different histopathological phases of scleroderma were enrolled in this study. The patients was divided randomly in two groups. Group one was composed of 32 patients treated with interferon alpha. 2b 3MIU/day, cyclosporine 100mg/day and Prednisolone 10mg/day. Group two received methotrexate 10 mg/week with 15 mg Prednisolone / day. After one year follow up group one [who received interferon alpha. 2b, cyclosporine and Prednisolone] showed remarkable improvement in the shape of skin, tightness of skin and raynauds phenomena who used prednisolone plus methotrexate who did not show any improvement, in comparison with group two. Combined therapy of interferon alpha. 2b, cyclosporine and small dose of prednisolone could be useful therapy for patients with scleroderma

Liquen escleroso: a propósito de un caso / Lichen sclerosus: apropos of a case

Se presenta la evolución de un liquen escleroso extragenital en una paciente diabética, de 67 años, con discordancia inicial entre la clínica y la histopatología, el cual posteriormente se complicó con un carcinoma espinocelular vulvar. Se realiza una revisión del tema y de la conducta terapéutica, especialmente en mujeres.

Síndrome de las escleroatrofias circunscritas / Circumscribed scleroatrophy syndrome

Nosotros hemos estudiado diez pacientes afectados por el Síndrome de las Escleroatrofias circunscritas, de los cuales ocho eran mujeres y dos varones. Todos ellos tenían Morfea. Un paciente presentó Liquen Escleroso y Atrófico, tres mostraron Esclerodermia Lilácea y uno tenía Atrofia Brillante y Atrofodermia Idiopática de Passini-Pierini. Las lesiones estuvieron más frecuentemente localizadas en la línea media. Los exámenes de laboratorio de rutina fueron casi todos normales. Como asociación mórbida se han detectado parasitosis intestinal, hipertensión arterial, diabetes mellitus y asma bronquial. Los estudios histopatológicos de los diez enfermos mostraron degeneración hialinizada del tejido conjuntivo de la dermis reticular expresión específica de Morfea, con variación en la gradación de la intensidad correspondiendo la tumefacción hialina a la Esclerodermia Lilácea y una moderada hialinización a la Atrofia Brillante. El tratamiento fue realizado con Hidroxiprolina y Vitamina E (Tocoferol), en todos los casos, con buena respuesta en el 90% de ellos y ausencia de respuesta en un caso. El tratamiento efectivo con la asociación de Hidroxiprolina y Vitamina E, es presentado, dada la buena respuesta observada por nosotros, teniendo en consideración el escaso aporte de la literatura a este respecto