Genetic analysis and clinical phenotype of a family with lymphedema-distichiasis syndrome / 浙江大学学报·医学版

OBJECTIVE@#To identify the genetic causes of a family with lymphedema-distichiasis syndrome (LDS).@*METHODS@#The whole exome sequencing was performed in a aborted fetus as the proband, and a candidate gene was identified. Peripheral blood of 8 family members were collected. Genotypic-phenotypic analysis were carried out through PCR amplification and Sanger sequencing.@*RESULTS@#The proband, and the mother, grandmother, uncle, granduncle of the proband all had distichiasis or varix of lower limb carried a @*CONCLUSIONS@#The

Rothmund-Thomson syndrome and ocular surface findings: case reports and review of the literature / Síndrome de Rothmund-Thomson e achados da superfície ocular: casos clínicos e revisão da literatura

ABSTRACT Rothmund-Thomson syndrome (RTS) is a rare dermatosis with about 300 cases reported to date. The authors describe two siblings with RTS and inflammatory conjunctival disease featuring fornix shortening and symblepharon as well as palpebral disease with sparse eyelashes. These cases demonstrate RTS ocular surface findings different to those usually described.

RESUMO A síndrome de Rothmund-Thomson (SRT) é uma dermatose rara com cerca de 300 casos reportados. Os autores descrevem dois irmãos com síndrome de Rothmund-Thomson e doença inflamatória conjuntival com encurtamento do fundo de saco e simbléfaro, assim como doença palpebral com escassez de cilíos. Ambos os casos demonstram achados da superfície ocular diferentes dos habitualmente descritos.

Essential trichomegaly: case report / Tricomegalia essencial: relato de caso

The present study reports two cases of symptomatic essential trichomegaly. Trichomegaly may develop in various diseases, including anorexia nervosa, hypothyroidism, pregnancy, pretibial myxedema, systemic lupus erythematosus, vernal keratoconjunctivitis, and uveitis. The exact incidence trichomegaly is unknown, and the condition remains sporadically reported. Two cases of symptomatic trichomegaly without any associated systemic disorder are presented in this paper.

O presente estudo tem por objetivo relatar dois casos de tricomegalia essencial com diminuição da acuidade visual. A tricomegalia pode se desenvolver em várias doenças, incluindo anorexia nervosa, hipotireoidismo, gravidez, mixedema pré-tibial, lúpus eritematoso sistêmico, ceratoconjuntivite primaveril, e uveíte. A incidência da tricomegalia essencial é desconhecida e a condição permanece esporadicamente relatada. São apresentados dois casos de tricomegalia sintomática em pacientes sem distúrbios sistêmicos associados.

Poliosis of Eyelashes as an Unusual Sign of a Halo Nevus

A 39-year-old man with poliosis of his lower eyelid lashes visited our clinic. He reported that his symptoms began with a few central lashes and then spread along the adjacent lashes during the ensuing 2 weeks. A pigmented nevus, approximately 4 mm in diameter, was identified just above the white lashes without surrounding skin depigmentation. No specific findings were identified with regard to the patient's general health or serologic and radiologic testing. Excisional biopsy of the pigmented nevus was performed. On histopathologic examination, infiltration of the dermis by numerous lymphocytes and melanophages was observed. The poliosis was ultimately diagnosed as a presenting sign of the halo phenomenon in the regressive stage of a melanocytic nevus.

The Effect of Epiblepharon Surgery on Visual Acuity and With-the-Rule Astigmatism in Children

PURPOSE: To evaluate the effect of epiblepharon surgery on visual acuity and with-the-rule astigmatism in children compared to patients without surgical treatment. METHODS: We undertook a retrospective case control study and reviewed the charts of 202 eyes treated with epiblepharon surgery and of 142 eyes without surgery. The surgical procedure for epiblepharon correction used rotating suture techniques. Data regarding age, best corrected visual acuity, and degree of astigmatism were recorded. Baseline and 1-, 3-, 6-, and 12-month postoperative data were collected. The chi-square test, Student's t-test and general linear model analysis for repeated measures were applied. RESULTS: The mean astigmatism in the surgical group decreased from 1.10 +/- 1.02 diopter (D) preoperatively to 0.84 +/- 1.05 D at 3 months after surgery (p < 0.05). However, there was no statistically significant difference compared to the non-surgical group during the first year. The general linear model analysis comparing the mean astigmatism between the two groups over time showed a significant group-time interaction (p < 0.05). Within the surgical group, the higher baseline astigmatic subgroup and the 5- to 8-year-old group demonstrated greater cylinder reduction over time. The change in mean visual acuity was not significant in either group. CONCLUSIONS: Significant astigmatic reduction was found after surgical correction in epiblepharon patients. Patients with higher baseline astigmatism exhibited greater astigmatic reduction after epiblepharon surgery. These results suggest that, in order to reduce astigmatism, an epiblepharon operation should be considered in patients with a high level of astigmatism.

Alterações dos cílios em portadores de cavidade anoftálmica / Eyelash alterations in anophthalmic patients

OBJETIVO: Avaliar a presença de alterações dos cílios em portadores de cavidade anoftálmica. MÉTODOS: Estudo observacional, procurando alterações ciliares em portadores de cavidade anoftálmica, atendidos na Faculdade de Medicina de Botucatu. RESULTADOS: Alterações dos cílios foram observadas em 70,7 por cento dos portadores de cavidade anoftálmica. As alterações mais encontradas foram a ptose dos cílios (24,4 por cento), diminuição do número (19,5 por cento), tricomegalia (19,5 por cento), triquíase (14,6 por cento) e entrópio (17,0 por cento). CONCLUSÃO: Os portadores de cavidade anoftálmica possuem alterações ciliares, sendo as mais observadas: ptose de cílios, redução do número, tricomegalia e triquíase. O fator que leva a estas alterações necessita de maiores investigações.

PURPOSE: To evaluate the eyelash alterations in anophthalmic cavity patients. METHODS: An observational study was done looking for eyelash alterations in anophthalmic cavity patients at "Faculdade de Medicina de Botucatu". RESULTS: Eyelash alterations were observed in 70.7 percent of the anophthalmic patients. The most frequently observed eyelash alterations were eyelash ptosis (24.4 percent), reduction in the quantity (19.5 percent), trichomegaly (19.5 percent), trichiasis (14.6 percent) and entropium (17.0 percent). CONCLUSION: The anophthalmic cavity patients have eyelash alteration and ptosis, reduction in quantity, trichomegaly, trichiasis are the most common observed situations. Further studies are needed to know more about it.

Amniotic membrane transplantation for congenital distichiasis

To evaluate the use of amniotic membrane transplantation [AMT] for management of congenital distichiasis. In this interventional case series, 16 eyelids of 5 patients with congenital distichiasis underwent posterior lamella resection and AMT. All patients were male subjects with mean age of 13.6 +/- 15.2 [range 2-42] years. Mean follow up was 17 +/- 7.5 [range 6-29] months. Distichiasis did not recur in 11 eyelids [68.7%]. Misdirected eyelashes recurred in 3 eyelids [18.8%] outside the AMT area and in 2 eyelids [12.5%] within the AMT area which were successfully treated by gentle laser epilation. Postoperatively, symptoms of dry eye were controlled by medical treatment in all patients. Eyelid contour was not significantly altered in any patient. AMT seems to be an for surgical management of congenital distichiasis yielding acceptable eyelid contour with low rate of complications

Alterações da margem palpebral associadas ao ectrópio / Eyelid alterations associated with palpebral ectropion

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.

Enfermedad de Hansen Tuberculoide en región orbitaria / Hansen's disease tuberculoid in orbit region

La incidencia de complicaciones oculares en la Enfermedad de Hansen es mayor en la forma lepromatosa, dada por la mayor presencia del bacilo en las estructuras oculares y sus anexos, por los fenómenos reaccionales tipo 1 y 2, y por daño neurológico del V y VII par craneal. Se observan complicaciones en la córnea, conjuntiva, párpados, iris, pestañas, cejas, cuerpo ciliar, glandula lagrimal y conducto lacrimonasal, con deterioro progresivo hasta la ceguera. Se presenta más precozmente en pacientes con lepra tuberculoide y tardíamente en la forma lepromatosa. Presentamos el caso de una paciente femenina de 78 años de edad con manifestaciones clínicas única de Enfermedad de Hansen Tuberculoide en región periorbitaria izquierda, de un año de evolución

Hipertricose ciliar: sinal semiológico da síndrome da imunodeficiência adquirida? / Hypertrichosis of the eyelashes: could it be a semiologic sign of AIDS?

Com o objetivo de verificar a existência de hipertricose ciliar em pacientes sidéticos e sua possível utilidade como sinal semiológico, foi conduzido estudo de caso-controle com vinte e três pacientes sidéticos e 23 controles. A média e desvio-padräo do comprimento dos cílios nos casos foi de 8,543 +/- 1,678 mm e nos controles de 7,465 +/- 1,672 mm. A diferença foi de 1,078 mm (p=0,032). Apesar da diferença existir e ser estatisticamente significativa, a utilidade da hipertricose ciliar como sinal semiológico ainda é de discutível significado prático

Nouvelle technique de tarsotomie dans le traitement du trichiasis post trachomateux: a propos de 3000 cas

Transverse tarsotomy and lid margin rotation is a simple method that is effective in repositioning the entropion lid without requiring external incisions or grafting. We report the results of this procedure in 3000 lids of 2000 patients with trachomatous trichiasis, from the south of Tunisia. We obtain excellent cosmetic and functional results, 97% of success rate. We recommend it as the initial procedure and in second intention