Doença de Von Recklinghausen: relato de caso / Von Recklinghausen's disease: case report

JUSTIFICATIVA E OBJETIVOS: A doença de Von Recklinghausen, também conhecida como neurofibromatose, é uma doença multissistêmica com características bem estabelecidas.Algumas manifestações são progressivas e resultam em considerável morbidade e mortalidade. Apresenta grande impacto na qualidade de vida, tanto do ponto de vista clínico como no aspecto estético, constituindo uma verdadeira agressão à autoimagem e à autoestima. Assim torna-se imperioso, relatar manifestações clínicas, critérios de diagnóstico, manuseio e acompanhamento dos pacientes com essa doença, devido à necessidade de diagnóstico precoce das complicações mais comuns em cada faixa etária, e conduta adequada no sentido de minimizá-las ou eliminá-las.RELATO DO CASO: Paciente do sexo feminino, 50 anos,procurou atendimento médico na unidade básica de saúde com queixa principal de caroços espalhados por todo o corpo,que aumentavam de tamanho com o tempo, acompanhado de manchas no tórax e nos membros, associadas à sardas em axila esquerda. Apresentava dor na linha mediana torácica e cefaleia do tipo enxaquequosa, quase que diariamente. Paciente sabidamente hipertensa, com história de catarata e miopia.CONCLUSÃO : Atualmente não há cura, sendo seu tratamento a ressecção cirúrgica das lesões que comprometem a funçãoe/ou a estética do paciente. A psicoterapia e o acompanhamento social são válidos para restaurar e reconstruir o equilíbrio emocional dos pacientes. O encaminhamento do paciente às demais especialidades médicas é de extrema valia para identificar possíveis complicações e realizar tanto o aconselhamento genético quanto o monitoramento da progressão da doença.

BACKGROUND AND OBJECTIVES: Von Recklinghausen's disease, also known as neurofibromatosis, is a multisystem disease with features well established. Some manifestations are progressive and result in considerable morbidity and mortality. This has great impact on quality of life, both in terms of clinical and aesthetic aspects, constituting a veritable assault on the self-image and self esteem. Thus it becomes imperative, to report clinical manifestations, diagnostic criteria, management and monitoring of patients with this disease, due to the need for early diagnosis of common complications in each age group, and appropriate action to minimize or eliminate them.CASE REPORT: Female patient, 50 years-old, sought medical care at primary care unit with a chief complaint of pits scattered throughout the body, which increased in size over time, accompanied by spots on the chest and limbs, associated freckles in the armpit. She had chest pain in the midline and migraine type headache almost daily. Known hypertensive patient with a history of cataract and myopia.CONCLUSION: Currently there is no cure, its treatment is surgical resection of lesions that compromise the function and / or the aesthetics of the patient. Psychotherapy and social support are valid to restore and rebuild the emotional balance of the patients. The referral of patients to other medical specialties is extremely important to identify potential complications and perform both genetic counseling and monitoring of disease progression.

El Pterigion ¿una Lesión Tumoral? / The Pterygium: is a tumoral lesion?

El pterigion es una alteración caracterizada por la proliferación anormal del tejido conjuntival, en algunos individuos crece a tal punto que puede afectar el eje visual. Ha sido considerada por diferentes autores como una lesión neoplásica debido a que presenta características propias de los tejidos tumorales. Se llevó a cabo una revisión sistemática de artículos científicos a partir de los cuales se respalda la propuesta hecha por Clear et al, quienes sugieren por primera vez la asociación entre la enfermedad y las neoplasias, para esto, se resaltan evidencias moleculares reportadas en los genes p53, p21 y COX-2, cuyos polimorfismos se han relacionado con la presencia de tumores, e identificados en algunos casos de pterigion.

Pterygium is an alteration characterized by the abnormal proliferation of the conjunctive tissue, in some people it can grow to the point off affecting the visual axis. It has been considered by different authors like a neoplastic injury because it has some characteristics like tumor tissues. It was carried out a systematic review of scientific articles with molecular evidences that supports the proposal showed by Clear et al, about the association between the disease and neoplasias, based on researches in the genes p53, p21 and COX-2, whose polymorphisms have been related with the presence of tumors, and also they have been identified in patients with pterygium.

Síndrome de pterigium múltiple: recurrencia en una familia / Multiple pterygium syndrome: recurrence in a family

En el presente trabajo se describe un caso de síndrome de pterigium múltiple recurrente familiar de particulares características clínicas. Esta descripción se presenta a continuación del artículo “Síndrome de Escobar: a propósito de un caso” para mostrar la heterogeneidad fenotípica y genotípica de esta entidad. El diagnóstico presuntivo se realizó en el primer hijo a los 5 días de vida y el confirmatorio a los dos meses; sobrevivió hasta los 8 meses con desnutrición, ceguera, retraso global del desarrollo y patología renal crónica. Las manifestaciones clínicas incluían fijación generalizada de articulaciones, pterigium de axila, codo y región poplítea, cifosis dorsal, desviación cubital de las manos, pie bot talo-valgo, pabellones auriculares de implantación baja y micrognatia. El diagnóstico presuntivo del segundo hijo fue ecográfico- genealógico, a las 20 semanas de gestación por síndrome de hipoquinesia fetal y fijación articular. El feto obitó a las 21 semanas de edad gestacional. La anatomía- patológica confirmó los hallazgos ecográficos, constatándose un fenotipo muy similar al de su hermano.

A recurrent and familiar case of pterygium multiple syndrome with particular clinical features is presented. This description comes after the article “Escobar syndrome: a case report” in order to show the phenotypic and genotypic heterogeneity of these cases. A preliminary diagnosis was made at 5 days of age in the first child of the couple; the definitive diagnosis was made at 2 months of age. The patient lived 8 months with malnutrition, blindness, developmental delay and chronic renal pathology. Clinical manifestations included joint contractures; elbow, armpit and popliteal region pterygium; dorsal kyphosis; cubital deviation of hands; club foot deformity; low outer ear and micrognathia. The preliminary diagnosis of the second child was ecographic, at 20 weeks of gestation by Hypokinesia fetal and joint contracture. The pregnancy was ended at 21 weeks. The anatomy pathology confirmed the ecographic findings with a phenotype very similar to the first case.

Autoinjerto conjuntival versus injerto de membrana amniótica en la cirugía del pterigión primario / Conjuctival autograft versus amniotic membrana graft in primary pterygium surgery

Introducción: El pterigión es una de las afecciones oftalmológicas más frecuentes en el mundo. Teniendo en cuenta que actualmente la prevención de la recidiva en el pterigión constituye un reto importante para los oftalmólogos, se decidió realizar un estudio para comparar la eficacia del autoinjerto conjuntival con células límbicas y el injerto de membrana amniótica. Métodos: Se realizó un estudio prospectivo comparativo, cuya muestra estuvo compuesta por 45 ojos de 30 pacientes tratados con excéresis seguida de injerto de membrana amniótica, y 45 ojos de 30 pacientes quienes recibieron autoinjerto conjuntival. El seguimiento posoperatorio se realizó hasta los 12 meses de la cirugía. Resultados: En el grupo al que se le realizó autoinjerto conjuntival, 2 pacientes (4,4 por ciento) desarrollaron inflamación del injerto, de los cuales un caso (2,2 por ciento) evolucionó a un granuloma. Uno de ellos (2,2 por ciento) presentó recidiva del pterigión. En el grupo de injerto de membrana amniótica, 3 casos (6,6 por ciento) recidivaron. El porcentaje de recidiva fue bajo para ambos grupos; pero fue más efectivo el autoinjerto conjuntival con células límbicas. Conclusiones: La complicación más importante fue la recidiva del pterigión. El autoinjerto de conjuntiva fue más efectivo que el injerto de membrana amniótica.

Introduction: Pterygium is a common eye disease worldwide. Preventing recurrence is an important challenge for the ophthalmologic surgeons at present, so it was decided to perform a study in order to compare the efficacy of conjuctival autograft with limbic cells with that of the amniotic membrane graft. Methods: A prospective comparative study was made on 45 eyes from 30 patients treated with exeresis followed by amniotic membrane graft, and 45 eyes from 30 patients who were performed conjunctival autograft. The postoperative follow-up lasted 12 months after the surgery. Results: There were two cases (4.4 percent) with autograft inflammation in the conjunctival autograft group and and one of them (2.2 percent) developed granuloma. Also one presented with pterygium recurrence. In the amniotic membrane graft group there were three recurrences (6.6 percent). The recurrence percentage was low in both groups, but conjunctival autograft with limbic cells was more effective. Conclusions: The most important complication was pterygium recurrence. The conjunctival autograft was more effective than the amniotic membrane graft.

Recurrence rate of pterygium following surgical excision with intraoperative versus postoperative mitomycin-C

To compare the rate of recurrence and complications of pterygium following surgical excision by applying 0.02% mitomycin-C intraoperatively or using topical 0.02% mitomycin-C drops postoperatively. Randomized clinical trial. Baqai Medical University Hospital, Department of Ophthalmology, from January 2001 to July 2005. Eighty-four eyes of 65 patients, aged between 20-70 years, with primary pterygium were randomly allocated into two groups using random tables. Patients with bilateral disease were treated with an interval of 10-14 days and randomized separately. In group-I, 0.02% mitomycin-C was applied intraoperatively for 3 minutes after pterygium excision. Group-II received mitomycin-C 0.02% eye drops twice a day for 2 weeks after pterygium excision. Patients were followed-up for pterygium recurrence for one year. Variables were compared for significance, using Pearson chi-square test. In Group I, recurrence of pterygium was seen in 4 [10.0%] eyes and superficial punctate keratitis in 4 [9.5%] eyes, while 8 [19.0%] eyes developed avascularization of sclera at the pterygium excision site. In group II, 8 [20.51%] eyes had pterygium recurrence [p=0.38], 13 [31.0%] eyes had superficial punctate keratitis and tenon cyst was seen in one [2.4%] eye. One [2.4%] eye in each group developed scleral thinning. There was no significant difference in pterygium recurrence rate intraoperatively or postoperative application of 0.02% mitomycin-C. Complications were comparatively less following application of intraoperative 0.02% mitomycin-C for 3 minutes

Pterygium-induced corneal refractive changes.

To study the effect of pterygium on corneal topography, a retrospective analysis of 151 eyes with primary pterygia was done. All cases underwent videokeratography preoperatively and one month postoperatively. Statistical analysis of average corneal power (ACP), corneal astigmatism, surface regularity index (SRI) and surface asymmetry index (SAI) was done before and one month after surgery. Topographic indices were compared statistically for various grades of pterygia. Increase in the grade of pterygia had a significant effect on topographic indices. Corneal astigmatism reduced from 4.40+/-3.64 diopter (D) to 1.55+/-1.63D ( P value < 0.001) following surgery. The regularity of corneal surface improved and asymmetry of the cornea reduced one month after surgery. Pterygium leads to significant changes in corneal refractive status, which increase with the increase in the grade of pterygia and improve following pterygium excision.

Prolapso de gordura orbitária bilateral associado a pterígio: relato de caso / Bilateral orbital fat prolapse associated with pterygium: case report

O prolapso de gordura orbitária é entidade benigna incomum que pode causar defeitos estéticos. Os autores apresentam uma paciente de 63 anos com prolapso de gordura orbitária temporal bilateral associado a pterígio medial bilateral, ressaltando aspectos clínicos e cirúrgicos. Discute-se a importância do diagnóstico clínico e de imagem, além da comprovação histopatológica da lesão.

Pre and post operative assessment of astigmatism in pterygium cases

A significant degree of corneal astigmatism can be induced by the encroachment of a pterygium on to the cornea, which can have a significant impact on vision. There is a significant correlation between the extension of the pterygium on to the cornea and the amount of induced astigmatism. The pterygium generally causes With the Rule astigmatism that is hemi-meridional on the side of pterygium. This study was undertaken to evaluate the effect of successful pterygium surgery on existing refractive astigmatism. Four eyes with primary pterygium with astigmatism were analysed before and after pterygium excision. Astigmatism increased with the increase in the grade of pterygium, and subsequent excision of the pterygium brought a significant decrease in With the Rule astigmatism

Effect of pterygium excision on pterygium induced astigmatism.

Pterygium is known to affect refractive astigmatism, which can have a significant impact on vision. This study was undertaken to evaluate the effect of pterygium excision on refractive astigmatism. Thirty-six eyes with primary pterygium with astigmatism of 2D or more were analysed before and after pterygium excision. Astigmatism increased with the increase in the grade of pterygium (P = 0.000001). The preoperative refractive cylinder decreased from 4.60 +/- 2D to 2.20 +/- 2.04D (P = 0.00001) after pterygium excision.

Uso da fáscia temporalis para tratamento de afinamento escleral / Temporalis fascial use to treatment scleral thinning

Vários materiais têm sido usados para o tratamento dos afinamentos esclerais. Quando a cirurgia é indicada, um enxerto se faz necessário para recobrir a área exposta. A fáscia temporalis já é usada como enxerto autólogo nas cirurgias de reconstruçäo da órbita há vários anos, com excelentes resultados. Relatamos nesse estudo nossa experiência com a fáscia temporalis autógena como um material de enxerto nos casos de afinamento escleral

Uso de la Milamicina C instalada, como profilaxis en la recurrencia de Pterigiones: en pacientes intervenidos quirúrgicamente en el Centro Nacional de Oftalmología

El presente estudio tiene como objetivo identificar el efecto de la Mitomicina C 0.02, instalada en el postoperatorio, en 20 pacientes escogidos al azar, con historias de 1 a 5 recurrrencias de pterigion. Los sujetosdel estudio se intervinieron entre los meses de septiembre y noviembre de 1998, con la técnica de escisión simple. En el primer día postoperatorio cada pacientes inició el uso de Mitomicina C al 0.02, una gota cada 8 horas, durante 5 días.El corte evaluativo se realizó cuando todos los pacientes tenían por lo menos 3 meses de intervenidos, 2 pacientes presentaron retardo en reepitelización conjuntiva durante las 2 primeras semanas de postoperatorio, que remitieron al final de este período. Dos pacientes presentaron recurrencia (10), teniendo estos las características de historia de más de una recidiva anterior, del grupo etáreo de25 a 34 años, además que fueron intervenido 1 año después de su ultima recurrencia. Se concluyó que el uso de Mitomicina C como porfilaxis en prevenir la recurrencia, es un método seguro y eficaz; y que los pacientes mas jovenes (grupo de 15 a 34 años), del sexo masculino, y con historia de más de recurrencia anterior, o recurrencia última de un año o menor, tienen mayor probalidad de enfrentar una nueva recidiva, aún con el uso de la profilaxis. Se recomendó preferir la técnica de escisión simple más la instalación postquirúrgica de Mitomicina C, a fin de evitar las recurrencias...

Alteraçöes topográficas corneanas desencadeadas pelo pterígio / Corneal topographic changes induced by pterygia

Para avaliar o efeito do acúmulo de lágrima no pterígio induzindo distorçäo corneana, medidas topográficas foram obtidas antes e depois de secar o excesso de lágrima na interface pterígeo-córnea com uma esponja de celulose. As medidas topográficas foram repetidas entre 20 e 30 dias após a ressecçäo do pterígeo. A remoçäo de lágrima näo determinou diferenças no padräo topográfico corneano. A ressecçäo do pterigio determinou aplanamento no semimeridiano superior no eixo de 90§, a 1,5mm e a 2,5mm do ápice corneano e no semimeridiano inferior no eixo de 270§, a 2,5mm do ápice corneano, diminuiçäo da diferença entre os meridianos corneanos mais plano (K1) e mais curvo (k2) e reduçäo no componente cilíndrico refracional

Periósteo autógeno no tratamento da necrose de esclera após exérese de pterígio e betaterapia / Autogenous periosteum in scleral necrosis treatment after pterygium graft and betatherapy

Os autores apresentam um estudo no qual se utiliza o periósteo autógeno como alternativa de enxerto para o tratamento cirúrgico de necrose de esclera e exposiçäo uveal em olhos submetidos a betaterapia após exérese de pterígio. A revisäo da literatura demonstrou que o periósteo autógeno ainda näo havia sido utilizada neste tipo de patologia. A técnica foi empregada em cinco pacientes. Houve boa integraçäo em todos os casos. Como complicaçäo relatam um caso de dellen corneano e um caso de reabsorçäo parcial tardia do enxerto. Ressaltam a necessidade de tratar a necrose escleral para evitar a ocorrência de infecçäo que, frequentemente leva esses olhos a dano funcional irreversível.

Estudo do filme lacrimal em pacientes portadores de pterígeo / Precorneal film abnormalities in pterygium patients

Os autores realizaram um estudo prospectivo envolvendo 58 pacientes portadores de pterígeos unilaterais ou bilaterais. Destes, 70,7 por cento procuraram auxílio médico devido ao pterígio e os outros, por algum outro problema oftálmico. Pesquisaram nestes pacientes alteraçöes do filme lacrimal através dos testes de Schirmer I, tempo de ruptura do filme lacrimal (BUT) e Rosa Bengala, relacionando-as com a presença de pterígeo e pinguécula. Em 96,5 por cento dos pacientes foi encontrada alteraçäo do filme, näo havendo diferença significativa (p>0,05) na comparaçäo da incidência de olho seco e presença ou näo de pterígeo. Houve diferença significativa (5 por cento>p>2 por cento)na comparaçäo da incidência de olho seco e presença ou näo de pterígeo, sugerindo que o olho seco pode ser um importante fator na gênese dos sintomas do pterígeo

Use of cornel patch graft to repair scleral pr corneoscleral defects

Different types of graft materials, such as bucal mucosal membrane, auricular cartilage, conjunctiva, fascia lata, periosteum and dermal autografts, aortic and scleral homografts and synthetic materials have been used in order to repair or reinforce scleral or corneoscleral defects with variable results. We report patients with a minimum one year follow-up, successfully treated with corneal patch graft. In all cases, the corneal patch graft healed well without any evidence of further melting, infection or rejection. The grafts remained intact and able to support the defect, with a favorable final cosmetic appearance. Therefore, we emphasize the importance of human donor cornel tissue as an excellent alternative graft material to reinforce or repair scleral or corneoscleral defect.

Efeitos do uso intra-operatório da mitomicina C na sensibilidade táctil corneana, no filme lacrimal e no epitélio córneoconjuntival de olhos operados de pterígio / Effects of the application of 0,04 por cento mitomycin C during pterygium excision on corneal sensitivy,on precorneal tear film, and corneal-conjunctival epithelium

Este estudo compara a influência do uso intra-operatório da mitomicina C a 0,04 por cento (30 casos) com controles (30 casos) na sensibilidade táctil corneana, medida com o estesiômetro de Cochet e Bonnet, no filme lacrimal avaliado pelos testes de Schirmer 1 e tempo de rompimento do filme lacrimal e no epitélio córneoconjuntival.

Simultaneous pterygium and cataract surgery.

In our country both pterygium and cataract have a high incidence. Hence in this study, thirty patients with pterygium and cataract were treated with a simultaneous pterygium excision and cataract extraction procedure. These patients after pterygium excision were treated intra-operatively with 500 rads of beta radiation over the pterygium site. Then, the cataract was extracted and the patients were treated post-operatively with topical betamethasone 0.1% for a duration of three months. They were followed up for a duration of 6 months postoperatively. Nineteen patients (63%) had visual recovery to 6/12. Twelve of 30 patients (40%) had recurrence of pterygium. The combined procedure did not result in any surgical complications following cataract removal. Post-operatively, after 6 months 13 patients had with the rule astigmatism (WRA) for a mean WRA of 1.3 D, and 17 had against the rule astigmatism (ARA) for a mean ARA of 1.2 D.

Tratamento cirúrgico da necrose de esclera após exérese de pterígio e betaterapia / Surgical treatment of scleral necrosis after pterygium excision and postoperative beta-irradiation

Os autores apresentam como complicaçäo tardia da exérese de pterígio e aplicaçäo de betaterapia, necrose de esclera com exposiçäo uveal que ocorreu em 3 pacientes (4 olhos). Descrevem o tratamento cirúrgico para as áreas necrosadas (enxerto de esclera homóloga). Ressaltam a necessidade de se tratar essas áreas para evitar ocorrência de infecçäo que, freqüentemente leva esses olhos a dano funcional irreversível.

Pterygium and dry eye--a clinical correlation.

Schirmer's test and tear film break-up time (BUT) were studied in 56 eyes of patients with pterygium and compared with 50 eyes of normal healthy subjects representing the same age, sex and geographical distribution. Both the values were found to be significantly reduced in cases of pterygium indicating the inadequacy of tear film in these patients.

Injerto de córnea en quemadura escleral por beta-terapia / Cornea injertion in scleral burn by betatherapy

Se presentan 12 casos de pacientes portadoras de úlceras esclerales necróticas secundarias a beta-terapia y que fueron tratadas mediante la eliminación del tejido necrótico y posterior recubrimiento con trozos de córnea de tamaño y forma adecuada. Los resultados fueron ampliamente favorables, controlándose los síntomas y evitando su progresión hasta por un período de 6 años de control. Creemos que ésta es una buena alternativa de tratamiento para los casos que no pueden controlar médicamente, cuando el colgajo conjuntival ha fracasado y no se cuenta con tejido escleral donante