Presence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveae

Congenital ectropion uveae is a rare, nonprogressive anomaly characterized by the presence of iris pigment epithelium on the anterior surface of the iris stroma and is occasionally associated with Rieger's anomaly, Prader-Willi syndrome and neurofibromatosis type 1 (NF1). The most important complication of ectropion uveae is congenital or juvenile glaucoma. We described a patient with ectropion and the mutation R1748X in the NF1 gene. This is the third report in the literature describing ectropion associated with neurofibromatosis. If this association is confirmed by other authors, the NF1 patients should be examined for the presence of ectropion and, consequently, for the development of glaucoma. Copyright (C) 2004 S. Karger AG, Basel.

Revisión sistemática de la literatura: efecto de los rellenos inyectables en la región periorbitaria

Introducción: El conocimiento actual de la fisiopatología del envejecimiento periorbitario justifica la aplicación de materiales de relleno inyectables, dado que se enfocan en la restauración del volumen perdido en esta zona, convirtiéndose en una excelente alternativa a procedimientos quirúrgicos que remueven el tejido excedente. Sin embargo los efectos y la seguridad de esta naciente tendencia terapéutica aún no se sustentan en una sólida base científica. El objetivo de esta revisión es identificar el material de relleno inyectable más adecuado para el manejo de los defectos volumétricos estéticos de la región periorbitaria. Metodología: Se realizó una búsqueda exhaustiva de los artículos indexados publicados del 1º de enero de 2.000 al 30 de septiembre de 2.013, en diversas bases de datos electrónicas, se seleccionaron catorce publicaciones, se extrajo la información referente a datos demográficos, la intervención, el seguimiento y los desenlaces y se realizó un análisis de 14 estudios que cumplieron los criterios. Resultados: Todos los artículos incluidos poseían un bajo nivel de evidencia y del grado de recomendación. Todos los materiales de relleno se asociaron a altos niveles de satisfacción para el paciente, adecuada mejoría de la apariencia estética y similares efectos colaterales, el ácido hialurónico fue el material de relleno inyectable más utilizado en la región periorbitaria. Discusión: Los materiales de relleno inyectable mejoran los defectos volumétricos estéticos de la región periorbitaria pero es necesaria mayor evidencia para determinar el tipo relleno más apropiado para esta condición.

Blepharo-cheilo-dontic (BCD) syndrome: Report on four new patients

We report on four Brazilian patients with, among other signs, cleft lip and palate, dental anomalies, ectropion of the lower eyelids, euryblepharon, and lagophthalmia, Two were sporadic cases and two were familial cases, a mother and her equally affected son, Recently, the reports with different combination of these signs were reviewed by Gorlin et al, [1996; Am J Med Genet 65:109-112] and named blepharo-cheilo-dontic (BCD) syndrome, Variable expressivity and autosomal dominant inheritance were observed. (C) 1998 Wiley-Liss, Inc.

Alterações da margem palpebral associadas ao ectrópio

OBJETIVO: Investigar alterações da margem palpebral em portadores de ectrópio. MÉTODOS: Foi feito estudo observacional, do qual participaram 53 portadores de ectrópio palpebral e 25 portadores de dermatocálase (grupo controle), estudando-se, a partir de imagens digitais, a posição dos cílios e a presença de inflamações na margem palpebral. Os dados foram submetidos a análise estatística. RESULTADOS: Os portadores de ectrópio apresentaram com maior freqüência diminuição do número de cílios, perda da convexidade, triquíase e distiquíase quando comparados aos indivíduos do grupo controle. CONCLUSÃO: O portador de ectrópio possui alterações da margem palpebral provavelmente decorrentes do processo inflamatório crônico que ocorre na região.

Prevalência do ectrópio palpebral e características dos portadores na população da região Centro-Oeste do Estado de São Paulo

OBJETIVO: Apresentar as características dos portadores e a prevalência do ectrópio em uma amostra populacional aleatória do Estado de São Paulo, Brasil. MATERIAL E MÉTODOS: Os dados foram colhidos durante a realização do Projeto de Prevenção da Cegueira da Faculdade de Medicina de Botucatu-UNESP, com amostra domiciliar sistemática aleatória. Foram avaliados 10.432 indivíduos, residentes em 11 municípios da regional de saúde localizada na região Centro-Oeste do Estado de São Paulo. Os resultados obtidos foram submetidos a análise estatística para avaliação de variáveis descritivas e da prevalência do ectrópio palpebral. RESULTADOS: Foram detectados 71 portadores de ectrópio palpebral, com prevalência estimada de 0,68%. A prevalência não foi semelhante nos Municípios estudados. A maioria dos portadores de ectrópio apresentava idade acima dos 70 anos e era do sexo masculino. Vinte e oito por cento dos portadores de ectrópio apresentavam catarata concomitantemente. CONCLUSÃO: A prevalência do ectrópio na população Centro-Oeste do Estado de São Paulo é de 0,68%. O ectrópio palpebral ocorre mais frequentemente em homens, geralmente idosos, expostos ao sol, mais na pálpebra inferior e com acuidade visual corrigida normal.

Suspensão subperiostal do terço médio da face: uma alternativa para correção do ectrópio cicatricial

OBJETIVO: Apresentar a elevação subperiostal do terço médio da face como uma alternativa para o tratamento do ectrópio cicatricial da pálpebra inferior. MÉTODOS: Doze cirurgias foram feitas em 9 pacientes, estudados quanto ao sexo e os resultados do procedimento. Todos os pacientes foram operados com anestesia local, tendo o terço médio da face reposicionado por suturas. O tempo de seguimento foi de 6 meses. RESULTADOS: Foram obtidos bons resultados, com poucas complicações, exceto em duas pálpebras operadas que continuaram com ectrópio. CONCLUSÃO: O midface lift subperiostal é uma boa alternativa para correção do ectrópio cicatricial.

Ectrópio palpebral: Características e relação com alterações óculo-palpebrais

Objective: To evaluate the gender and the characteristics of the ectropion carriers in our region. Methods: A retrospective study was done evolving 112 ectropion carriers. The sex, race, eyelashes alterations (trichiasis and distichiasis), anterior and posterior blepharitis, conjunctival redness, íris color and pterygium presence were evaluated. Gender data were correlated to ectropion classification (involutional, cicatricial, mechanic or paralytic) and submitted to statiscal analysis. Results: The eyelid ectropion occurred more between 71 and 80 years old.The involutional ectropion was the most frequently observed (66,07%), followed by the cicatricial, mechanic, associated types and paralytic. The majority of the patients were male (70,53%), with White skin. Trichiasis (21,42%) and distichiasis (4,46%) were associated to the ectropion eyelid and mainly in the involutional ectropion carriers. Half of the sample had blepharitis and the majority of the patients had red eye (60%) and brown iris (63,39%). Perygium was absent in the majority of the patients. Conclusion: The involutional ectropium is the most frequently observed in our region, mainly in elderly, male, White skin, brown iris and associated to trichiasis, blepharitis and red eyes.

Ectrópio palpebral em portador da síndrome de Down e conjuntivite alérgica: Relato de caso

This is a case report of a patient with Down's syndrome with an important mechanical ectropion and elongation of the lower lid related to chronic allergic conjunctivitis, besides cataract and keratoconus. The tarsal strip technique and ressection of redundant and thick conjunctiva was the surgical approach chosen for this case. Functional and cosmetic outcomes were considered satisfactory.

Medial upper eyelid shortening to correct medial eyelid laxity in floppy eyelid syndrome: A new surgical approach

Purpose: To describe and present the results of a new surgical technique for patients with floppy eyelid syndrome, based on the medial upper eyelid stretching encountered in this condition. Methods: A case series of 24 patients with floppy eyelid syndrome who where found to have symptomatic predominately medial upper eyelid laxity was analyzed. The history, clinical features, histopathology, and outcome were reviewed after patients underwent medial upper eyelid shortening with or without upper eyelid skin reduction as the first surgical procedure. Results: Of the 24 patients, 18 were men (75%) with a mean age at referral of 56 years, having ocular discomfort and conjunctival irritation/papillary conjunctivitis as the main complaints at presentation. Obesity was present in 96% of cases, with lower eyelid laxityl/ectropion (50%) and upper eyelid eyelash ptosis (29%) in conjunction with the upper eyelid laxity. The affected side was related to sleeping habits or recurrent mechanical eyelid trauma. Histologic studies showed a nonspecific inflammatory cell infiltrate and loss of elastin with loose dermal connective tissue. After surgery, complete relief of ocular symptoms and good functional and cosmetic results were present in all cases after 18 months of follow-up. Conclusions: This new surgical approach is based on the presence of predominately medial upper laxity in patients with floppy eyelid syndrome. The excision of this stretched area stabilized the upper eyelid in an anatomic fashion, providing a good and stable long-term result. The possible mechanisms involved in the medial upper eyelid stretching are discussed.

Anterior lamella actinic changes as a factor in involutional eyelid malposition

Purpose: We conducted a noncomparative, retrospective chart review of 45 patients and 51 eyelids with the diagnosis of involutional entropion or ectropion that underwent full-thickness lower eyelid shortening between June 2001 and February 2004, in whom the severity of actinic damage was analyzed in relation to the eyelid position. Patients with any different surgical approach or other primary causes of abnormal eyelid position, such as paralytic, congenital, or mechanical factors, were excluded. Methods: After excision, all eyelid specimens were examined by a single anatomic pathologist, who was masked to the type of eyelid malposition. The extent of dermal actinic change was evaluated under light microscopy, according to a previously validated grading system. Results: Fifty-one eyelids from 26 male and 19 female patients were analyzed. The mean age at the surgery was 76 +/- 10 years (range, 52 to 92 years), affecting one side in 39 cases and both sides in 6 cases. The most frequent eyelid malposition was ectropion, which affected two thirds of the cases (35 eyelids). Half of the patients presented with mild actinic skin changes; however, the severity of the histologic skin actinic changes was significantly worse in patients with ectropion in comparison to those with entropion (p < 0.0001). Conclusions: Actinic damage affecting the anterior lamella of the lower eyelid contributes as an additional factor in final eyelid position in patients with involutional eyelid changes. More severe and extensive actinic changes were present in eyelids with ectropion.