Diagnóstico oftalmológico del síndrome de linfedema-distiquiasis a través de la mutación FOXC2 / Ophthalmologic diagnosis of lymphedema-distichiasis syndrome through the FOXC2 mutation

El síndrome de linfedema-distiquiasis es uno de los fenotipos más frecuentes de aparición de linfedema primario; aun así, su prevalencia es baja.Este síndrome cursa con la aparición en la infancia o en la pubertad de pestañas aberrantes y otras formas de distiquiasis que pueden disminuir la calidad de vida, especialmente en pacientes en edades tan tempranas. La valoración clínica de este tipo de signos debe hacernos tener en mente este grupo de síndromes, ya que contamos, en este caso, con el diagnóstico de certeza gracias al análisis genético en suero del gen FOXC2, como ocurre en el caso que presentamos.De esta manera podemos prevenir, diagnosticar y tratar tanto los síntomas oftalmológicos como el resto de los síntomas sistémicos de forma precoz y más efectiva, aumentando así la calidad de vida de nuestros pacientes. (AU)

Lymphedema-distichiasis syndrome is one of the most frequent phenotypes of primary lymphedema, even so, its prevalence is still low.This syndrome courses with the appearance of abnormal eyelashes and distichiasis during childhood or puberty. This can cause a notable discomfort on our patients, especially at such an early age. The clinic evaluation of this signs must make us have in mind this group of syndromes, because in the case of lymphedema distichiasis syndrome, we can certainly diagnose it with the genetic analysis of the FOXC2 gen on patient's serum.With this we could prevent, diagnose and treat the ophthalmologic syndrome alongside the rest of systemic symptoms of this syndrome in a more effective way, giving our patients a higher quality of life. (AU)

Ophtalmologic diagnosis of lymphedema-distichiasis syndrome through the FOXC2 mutation.

Lymphedema distichiasis syndrome is one of the most frequent phenotypes of primary lymphedema, even so, its prevalence is still low. This syndrome courses with the appearance of abnormal eyelashes and distichiasis during childhood or puberty. This can cause a notable discomfort on our patients, especially at such an early age. The clinic evaluation of this signs must make us have in mind this group of syndromes, because in the case of lymphedema distichiasis syndrome, we can certainly diagnose it with the genetic analysis of the FOXC2 gen on patient's serum. With this we could prevent, diagnose and treat the ophthalmologic syndrome alongside the rest of systemic symptoms of this syndrome in a more effective way, giving our patients a higher quality of life.

Aplicación de láser CO 2 para el tratamiento de xantelasmas palpebrales / Application of laser CO 2 for the treatment of xanthelasma palpebrarum

Método: Se trataron a 12 pacientes con xantelasmas bilaterales mediante láser CO2 ultrapulsado. Todos fueron extirpados, sin diferencias entre el párpado superior e inferior. No hubo ectropión, ni sangrado. Todos los pacientes expresaron un gran nivel de satisfacción. Discusión: La utilización del láser CO2 es una opción terapéutica buena para tratar xantelasmas, especialmente los localizados en párpado inferior y en gente joven. Es un tratamiento seguro para regiones delicadas de la periórbita: el riesgo de cicatrices visibles es bajo y hay menos recurrencias. La técnica se puede realizar sin quirófano, evitando con ello la ansiedad que se crea con una intervención quirúrgica (AU)

Method: We treated 12 patients with bilateral xanthelasmas using an ultra-pulse CO2 laser. They were all extirpated, with no differences between the upper and lower eyelids. There were no cases of ectropion or bleeding. All the patients expressed a high level of satisfaction. Discussion: The use of the laser CO2 is a good therapeutic option for treating xanthelasmas especially those located in the lower eyelid, and in young people. It is a safe treatment for delicate periorbital regions, with a low risk of visible scars, and fewer recurrences. The technique can be performed outside the operating room avoiding the anxiety that is created by surgical intervention (AU)

[Application of laser CO2 for the treatment of xanthelasma palpebrarum]. / Aplicación de láser CO2 para el tratamiento de xantelasmas palpebrales.

METHOD: We treated 12 patients with bilateral xanthelasmas using an ultra-pulse CO2 laser. They were all extirpated, with no differences between the upper and lower eyelids. There were no cases of ectropion or bleeding. All the patients expressed a high level of satisfaction. DISCUSSION: The use of the laser CO2 is a good therapeutic option for treating xanthelasmas especially those located in the lower eyelid, and in young people. It is a safe treatment for delicate periorbital regions, with a low risk of visible scars, and fewer recurrences. The technique can be performed outside the operating room avoiding the anxiety that is created by surgical intervention.

[Unsuccessful treatment with OK-432 picibanil for orbital lymphangioma]. / Resultado sin éxito en el tratamiento de un linfangioma orbitario con OK-432. Picibanil.

INTRODUCTION: Lymphangioma is a malformation of the lymphatic system. The classic approach is surgery. We report a case of orbital lymphangioma in a girl who was given OK-432 to avoid surgery and its complications. DISCUSSION: OK-432 is a lyophilized mixture of group A Streptococcus pyogenes which produces a fibrosis limited to the lesion with a high cure rate. The main advantages are the easy intra-lesional application. with no scars and or damage of closed areas. Its main disadvantage is a significant local inflammatory reaction.

Resultado sin éxito en el tratamiento de un linfangioma orbitario con OK-432. Picibanil / Unsuccessful treatment with OK-432 picibanil for orbital lymphangioma

Introducción: El linfangioma es una malformación linfática cuyo tratamiento habitual ha sido la cirugía. Se aporta un caso de linfagioma orbitario en una niña a la que se trató con OK-432 intralesional para evitar la cirugía y sus complicaciones. Discusión: El OK-432 es una mezcla liofilizada de Streptococcus pyogenes del grupo A. que produce una fibrosis circunscrita de la lesión con una alta tasa de curación. Sus principales ventajas son su fácil aplicación intralesional y la falta de cicatrices y lesiones a las estructuras adyacentes de la lesión. Aunque su gran inconveniente es la gran reacción inflamatoria local que provoca(AU)

Introduction: Lymphangioma is a malformation of the lymphatic system. The classic approach is surgery. We report a case of orbital lymphangioma in a girl who was given OK-432 to avoid surgery and its complications. Discussion: OK-432 is a lyophilized mixture of group A Streptococcus pyogenes which produces a fibrosis limited to the lesion with a high cure rate. The main advantages are the easy intra-lesional application. with no scars and or damage of closed areas. Its main disadvantage is a significant local inflammatory reaction(AU)

[Management of lymphoid hyperplasia of the ocular adnexa]. / Manejo de las hiperplasias linfoides orbitarias.

OBJECTIVE: Lymphoid Hyperplasia (LH) is a benign proliferative lymphocyte-rich process. Histologically, LH may be similar to a lymphoma. Its incidence has decreased because of new sophisticated diagnostic procedures and a better knowledge of lymphomas. Most of the cases are seen in patients between forty and sixty years of age. As there was no consensus about the best treatment, determining this was the objective of our study. METHOD: We describe three patients with a lymphoproliferative process affecting the ocular anexae, in whom histologic, immuno-histochemical and molecular studies were performed. PCR analysis allowed a definitive diagnosis to be made. RESULTS: Histologically, all three cases were diagnosed as LH; immuno-histochemically, one was diagnosed as an idiopathic orbital inflammation, and the other two, as LH. After PCR analysis, one of these latter two cases was definitively diagnosed as B-cell Non-Hodgkin's lymphoma. CONCLUSIONS: Today's molecular techniques allow us to make a definite diagnosis of lymphoma, because sometimes histology and immuno-histochemistry alone can result in a wrong diagnosis being made. LH of the ocular adnexae may be the first stage of a much more serious disease, and a benign hyperplasia at this site must lead to suspicion of lymphoma, which can then be diagnosed or excluded by the improved diagnostic procedures. Therefore, when we make a diagnosis of LH it is necessary to complete a full evaluation and institute a defined follow-up of the patient's clinical condition.

Manejo de las hiperplasias linfoides orbitarias / Management of lymphoid hyperplasia of the ocular adnexa

Objetivo: La hiperplasia linfoide (HL) es una proliferación benigna e hipercelular, rica en linfocitos, que morfológicamente puede simular un linfoma. Su incidencia ha disminuido debido a la sofisticación de las técnicas diagnósticas y mejor conocimiento de los linfomas. Se presenta entre la 4.ª y 6.ª década de la vida y no está determinado un manejo apropiado, objetivo de nuestro trabajo.Método: Se ha estudiado tres pacientes con alteración linfoproliferativa de anexos oculares en los que se aplicó las técnicas de histología, inmunohistoquímica y biología molecular y cuyo diagnostico definitivo se realizó gracias a la reacción en cadena de la polimerasa (PCR).Resultados: Las tres muestras fueron diagnosticadas por histología de HL, con las técnicas inmunohistoquímicas el resultado fue de una inflamación orbitaria idiopática y las otras dos restantes de HL. La PCR diagnosticó un linfoma no-Hodgkiniano tipo B y la otra muestra confirmó una HL.Conclusión: Hoy en día las técnicas de biología molecular son las que permiten definir que es un linfoma, en algunos casos sólo la histología y la inmunohistoquímica pueden inducir a error. Las HL de los anexos pueden suponer un estado inicial de la enfermedad. El hallazgo de una hiperplasia presumiblemente benigna en dicha localización debe hacer sospechar un posible linfoma. El diagnóstico de linfoma está en continuo cambio debido a la sofisticación de las técnicas diagnósticas. Por tanto el diagnóstico de una HL inicialmente benigna, obliga a realizar una exploración sistémica y a un seguimiento de los pacientes estrecho y muy minucioso

Objective: Lymphoid Hyperplasia (LH) is a benign proliferative lymphocyte-rich process. Histologically, LH may be similar to a lymphoma. Its incidence has decreased because of new sophisticated diagnostic procedures and a better knowledge of lymphomas. Most of the cases are seen in patients between forty and sixty years of age. As there was no consensus about the best treatment, determining this was the objective of our study. Method: We describe three patients with a lymphoproliferative process affecting the ocular anexae, in whom histologic, immuno-histochemical and molecular studies were performed. PCR analysis allowed a definitive diagnosis to be made. Results: Histologically, all three cases were diagnosed as LH; immuno-histochemically, one was diagnosed as an idiopathic orbital inflammation, and the other two, as LH. After PCR analysis, one of these latter two cases was definitively diagnosed as B-cell Non-Hodgkin’s lymphoma. Conclusions: Today’s molecular techniques allow us to make a definite diagnosis of lymphoma, because sometimes histology and immuno-histochemistry alone can result in a wrong diagnosis being made. LH of the ocular adnexae may be the first stage of a much more serious disease, and a benign hyperplasia at this site must lead to suspicion of lymphoma, which can then be diagnosed or excluded by the improved diagnostic procedures. Therefore, when we make a diagnosis of LH it is necessary to complete a full evaluation and institute a defined follow-up of the patient’s clinical condition

[Orbital manifestation of Wegener's granulomatosis]. / Manifestación orbitaria de la enfermedad de Wegener.

CASE REPORT: Patient who consults for a recidivant orbital mass. Preliminary clinical and image studies suggested an initial differential diagnosis between a lachrymal gland tumor or an orbital located pseudotumor. However, the clinical evolution of the case required a re-evaluation of the preliminary diagnosis. The clinical, histologic and serologic findings were key in the final diagnosis. DISCUSSION: Wegener's granulomatosis is a necrotizing vasculitis. Classically it affects the upper airways, lungs and kidneys. Between 30% and 70% of patients present ophthalmic symptoms during the course of the illness. Ophthalmic affectation prior to systemic manifestations is less frequent and could delay final diagnosis.

[Orbital abscess secondary to sinusitis in a child]. / Absceso orbitario secundario a sinusitis en un niño.

PURPOSE/METHOD: We present the case of a 10-year-old patient who was admitted as an emergency to our hospital with right ocular infection due to pansinusitis. He presented fever and malaise. Clinical, ophthalmic and radiologic examination confirmed the existence of an orbital abscess. Due to the poor evolution, surgical treatment was needed. RESULTS/CONCLUSION: Orbital cellulitis and orbital abscess are two different types of orbital infections. Being able to differentiate between then is very important for selecting the appropriate medical and surgical therapy. Medical treatment is a good solution for infections without abscesses, but surgery is usually needed for infections with an abscess. Abscess formation sometimes require surgical drainage of the orbital abscess with associated treatment of paranasal sinus.

Absceso orbitario secundario a sinusitis en un niño / Orbital abscess secondary to sinusitis in a child

Objetivo/Método: Presentamos un caso de un niño de 10 años que ingresó de urgencia con el diagnóstico de infección orbitaria derecha debido a una pansinusitis. El paciente presentaba fiebre y malestar general. El estudio clínico, oftalmológico y radiológico diagnosticó un absceso orbitario. Por la evolución del cuadro clínico se procedió al tratamiento quirúrgico. Resultados/Conclusiones: La celulitis orbitaria y el absceso orbitario son diferentes patologías dentro del espectro de infecciones orbitarias. La diferenciación entre ellas es importante porque implica diferentes modalidades terapéuticas, la primera se soluciona con tratamiento médico, la segunda es susceptible, según la evolución, de drenaje del absceso (AU)

[Evaluation of the work time used in outpatient ophthalmology techniques]. / Estimación de tiempos médicos para técnicas oftalmológicas ambulatorias.

PURPOSE: To determine the work time used for out-patients seen in the ophthalmology out-patient clinic according to treatment for each diagnosis and examination guidelines. Another objective was to discover the diagnostic related outpatient demand as well as the time spent on each technique. METHOD: We have designed a computer database system that includes examinations, treatments and medical services. Their duration was measured in a random sample of 127 ophthalmology outpatients in the General Hospital of Castellon. Sixty five of the patients had come to their first visit and 62 to the follow-up visits. RESULTS: A new patient spends a mean of 42 minutes and a follow-up patient spends a mean of 27 minutes. The most frequent diagnoses are retinal diseases (30%), cataract (18.6%), glaucoma (11.8%) and ocular motility disorders (11.8%). We present the mean times used by the physician in the ophthalmic techniques used in outpatients. CONCLUSIONS: We have modified the standard times of 30 minutes for the first visit and 15 minutes for the follow-up visit. Data on the work time used for all the ophthalmics techniques in our outpatient clinic are presented. This ophthalmology survey can be used for health care managers to establish the <> and health care plan administration to adapt the resources to the demand.

Estimación de tiempos médicos para técnicas oftalmológicas ambulatorias / Evaluation of the work time used in outpatient ophthalmology techniques

Objetivo: Determinar el tiempo de trabajo consumido en pacientes ambulatorios en la consulta externa de Oftalmología, según protocolos exploratorios y de tratamiento por diagnóstico. Otros objetivos han sido, conocer la demanda ambulatoria por diagnósticos así como el tiempo requerido en cada técnica exploratoria. Método: Hemos diseñado un sistema de información donde se recogen todas las exploraciones, tratamientos y actos médicos. Se ha medido la duración de los mismos en una muestra aleatoria de 127 pacientes de Consultas Externas de Oftalmología del Hospital General de Castellón. Sesenta y cinco pacientes eran primeras visitas y 62 eran revisiones. Resultados: Un paciente de primera visita consume una media de 42 minutos y una revisión una media de 27 minutos, siendo las patologías más frecuentes las enfermedades retinianas (30 per cent), la catarata (18,6 per cent), el glaucoma (11,8 per cent) y las alteraciones oculomotoras (11,8 per cent). Presentamos los tiempos médicos medios consumidos por las técnicas oftalmológicas en pacientes ambulatorios. Conclusión: Modificamos los tiempos estandarizados de 30 minutos la primera visita y 15 minutos la segunda visita. Presentamos los tiempos médicos de todas las técnicas que disponemos en Consultas Externas. Ofrecemos datos a los gestores para establecer los 'Ambulatory Visit Group' (Grupos Relacionados con el Diagnóstico Ambulatorios) y para adecuar los recursos a la demanda (AU)