Anquilobléfaro filiforme congênito / Ankyloblepharon filiforme adnatum

RESUMO O anquiloblefáro filiforme congênito é uma rara anomalia congênita, caracterizada por uma fusão palpebral, parcial ou completa, cuja incidência é de 4,4 por 100 mil recém-nascidos. Normalmente, o anquiloblefáro filiforme congênito constitui uma malformação solitária, de ocorrência esporádica, no entanto, pode estar associado a outras malformações. O pediatra possui papel imprescindível para observar as alterações clínicas do recém-nascido e dar orientação para o tratamento adequado. O objetivo deste estudo foi relatar o caso de recém-nascido de termo que teve diagnóstico precoce de anquiloblefáro filiforme congênito associado a outras malformações congênitas, tendo desfeito as aderências em procedimento cirúrgico oportuno, evitando-se a evolução para futuras complicações visuais do paciente.

ABSTRACT Ankyloblepharon filiforme adnatum is a rare congenital anomaly, characterized by partial or complete palpebral fusion, with an incidence of 4.4 per 100,000 newborns. Normally, ankyloblepharon filiforme adnatum constitutes a solitary malformation, with sporadic occurrence, however, it can be associated with other malformations. Pediatricians play an essential role in observing clinical changes in newborns and providing guidance on appropriate treatment. The this study aims to report the case of a full-term newborn who had an early diagnosis of ankyloblepharon filiforme adnatum associated with other congenital malformations.

Congenital eyelid imbrication syndrome in a Hispanic newborn: case report and review of the literature.

A 6-hour newborn boy presented with bilateral overriding of the upper eyelids during sleep and spontaneous eyelid eversion. Physical examination revealed canthal tendon laxity and hyperemia of the tarsal conjunctiva of both eyes. A diagnosis of congenital eyelid imbrication syndrome (CEIS) was established. The cornea and remaining adnexal structures were healthy; therefore, conservative management with lubricant ointment was initiated. On day 4, complete resolution of upper eyelid overriding and absence of spontaneous eversion was observed. CEIS is a rare eyelid malposition disorder in which the upper eyelid overrides the lower. Most CEIS cases described in the literature present at birth, occur in Asian patients, are associated with floppy eyelid, and resolve spontaneously. The authors present the first report of CEIS in a Hispanic newborn and a literature review of previously reported cases.

Distiquíases em gatos / Distichiasis in cats

Background: Distichiasis is a disease that is rare in cats, but very common in dogs. The term distichiasis may be controversial when used in the feline species, given that they do not possess true cilia, but rudimentary hair along the superior palpebra. The patients may be asymptomatic, though some show signs of ocular discomfort and ulcerative keratitis. The diagnosis is reached through an ophthalmological exam, and the treatment consists of the removal of the cilium with or without its hair follicle. With this work, we aim to report a series of cases of distichiasis in cats, as it is an uncommon anomaly, and has the potential to cause ocular discomfort in cats. Cases: Two mobile services of veterinary ophthalmology, one in the federal district of Brasília (DF) and the other in the municipality of Valinhos (SP), attended to 9 cats over a period of 5 years (2018 to 2022). The cats (n = 9) attended are of an undefined breed with ages varying from 10 months to 9 years, with an average of 3.9-year-old. The number of distichiasis presented by the animals was classified according to their quantity, being categorized as a mild grade when there was a single cilium, moderate grade when there were 2 to 4 cilia, and severe grade when there were more than 5 cilia. The highest incidence of distichiasis in this study was in males (78%) while females accounted for (22%) of the cases. The clinical changes reported by the owners consisted of signs of ocular discomfort (photophobia, blepharospasm, and periocular itching), ocular discharge and ocular redness. In the ophthalmological evaluations, blepharospasm (22%), serous to mucosal secretion (56%), chemosis (22%), mild (44%) to moderate (11%) conjunctival hyperemia, and ulcerative keratitis (22%) were observed. Distichiasis was more frequent affecting both eyes (56%), while in only (44%) of cases it affected the left eye only. The highest occurrence of cilia was identified in the upper palpebra (78%). Distichiasis was found more often in the temporal palpebral portion (78%), and in 2 patients the identification was more challenging since these cilia lack pigmentation. Single cilium affected (44%) of patients, while 5 cats had multiple distichiasis (56%). A total of 29% of the cats had a mild grade, whereas 14% had a moderated grade, and 57% had a severe grade. The treatments performed consisted of manual epilation (ME) and electroepilation (EE). ME was carried out in 56% of the cats, with relapses occurring in 80% of the patients, while 44% of the cats submitted to EE had a relapse in 20% of the cases. Discussion: Distichiasis is an inherited disorder very frequent in dogs, but considered uncommon in cats. Its causative factor is still unknown, as is its mode of inheritance. In distichiasis therapy, epilation, electroepilation, electrolysis, diode laser, cryotherapy and surgical palpebral resection techniques are referred to as procedures. Among the treatments used in this study, we observed a lower incidence of relapse with the electroepilation technique, which proved to be a viable and successful therapeutic modality. This series of cases shows that perhaps this disorder is much more frequent than what has been reported in the literature, being sometimes underdiagnosed and consequently underreported. Therefore, distichiasis in cats should be considered as a differential diagnosis in patients with clinical signs of ocular discomfort and ulcerative keratitis.

Coloboma eyelid in cats - treatment with carbon dioxide cryosurgery

Background: Eyelid colobomas are congenital and developmental disorders. Generally, they affect the temporal portion of the upper eyelids of cats, bilaterally. This ocular defect is accompanied by trichiasis associated with pain and ulcerative keratitis. Any breed can be affected and it has been reported in Domestic Shorthair, Persian, Burmese, Mongrel cats and captive felids. The objective of this case report is to describe the technique of dioxide carbon cryosurgery for the treatment of eyelid coloboma in felines. Cases: Seven mongrel cats (14 eyes) with bilateral eyelid coloboma were included in this study, 5 females and 2 males, with a median age of 5 months (range 6-8 months). The patients presented with blepharospasm, bilateral mucopurulent ocular discharge and eyelid coloboma extension of 30-50% in the upper eyelid, resulting in severe trichiasis of both eyes. In 5 cats, 1 or both eyes were diagnosed with keratitis and superficial corneal ulcers. Surgical treatment with general anaesthesia was applied. The pre anaesthesia protocol included acepromazine 0.05 mg/kg with methadone 0.2 mg/kg, followed by intravenous propofol and maintenance with isoflurane and oxygen. An ophthalmological cryocautery unit was utilised with carbon dioxide as the cryogenic agent and a retinal cryoprobe of 3.2 mm diameter tip, reaching -50ºC for the procedure. The method used was a double cycle of freezing and thawing for 60 s in the margins of eyelid agenesis. Epilation of hairs was made after freezing with eyelash tweezers. Immediately after the surgical procedure, an Elizabethan collar was placed to safeguard the area and anti-inflammatory therapy with meloxicam 0.1 mg/kg once daily for 3 days was prescribed. Antibiotic ointment every 6 h (chloramphenicol and associations) was also prescribed for topical application. Two weeks post-operatively, hyperaemia, oedema and skin wounds at the margins were observed. After 30 days these clinical signs were minimal. No signs of pain were observed post-operatively. The follow-up was 90 days and the trichiasis was resolved in all cats. Discussion: Usually, young cats are affected with eyelid colobomas. The age of the patients in this study was between 6-8 months. Eyelid colobomas are repaired with a variety of blepharoplastic procedures and the choice depends on the size and position of the defect. Generally, larger defects require more extensive reconstructive procedures. All techniques can have post-operative complications. Suture dehiscence, skin flap necrosis and facial deformation can occur with traditional surgical techniques. Furthermore, posterior hair growth in the margins can lead to new trichiasis. Cryosurgery was chosen and performed as the temperature of -20°C is sufficient to destroy hair follicles, without surgical incisions, avoiding scar formation. Hence, sutures are not necessary in cryosurgery procedures. Carbon dioxide is a good cryogenic agent for the purpose of this procedure. In the cases described, no recurrence of hair growth was observed in the follow-up period of 90 days. Nevertheless, a good aesthetic appearance was maintained. Therefore, the use of carbon dioxide cryosurgery is an effective and safe alternative for treatment of eyelid coloboma in cats. To our knowledge, no paper has described the use of carbon dioxide cryosurgery for the correction of palpebral agenesis in felines and other species as a single treatment. This technique is easy to perform, has good aesthetic and functional results and can be considered a treatment option for this congenital condition.

Spectrum approach to congenital ectropion / Abordagem espectral do ectrópio congênito

ABSTRACT In the literature, there is a confusing classification among congenital floppy eyelid, eyelid eversion and ectropion. They are described as eyelid malposition with laxity and out-turning of the eyelids in newborns, usually associated with conjunctival prolapse and chemosis. Although the underlying pathophysiology of these rare conditions is obscure, they share anatomic characteristics. Thus, instead of a plethora of denominations, a spectrum approach should join these entities. In this paper, the authors present a case series of four patients that illustrates distinctive presentations of this condition and advocate that it should be considered as variants of a spectrum of congenital ectropion. Mild cases, when promptly treated, can benefit from clinical treatment. On the other hand, severe and delayed cases will need surgical correction as in the case of acquired ectropion.

RESUMO Na literatura, existe uma classificação confusa entre floppy eyelid congênita, eversão palpebral e ectrópio congênito. Essas afecções são similarmente descritas como pálpebras frouxas e evertidas em recém-nascidos e geralmente associadas a prolapso de conjuntiva e quemose. Embora a fisiopatologia dessas raras afecções seja incerta, elas apresentam íntimas características anatômicas em comum. Assim, ao invés dessa nomenclatura variada, seria interessante incluí-las em um espectro de uma só doença. Neste artigo. apresenta-se uma série de quatro casos que ilustram diferentes apresentações dessa afecção e propõe-se que todas devam ser consideradas variações do espectro de ectrópio congênito. Casos leves são beneficiados quando tratados precocemente. Por outro lado, casos mais graves ou que são tratados tardiamente necessitarão de procedimento cirúrgico semelhante ao ectrópio adquirido.

Abordagem conservadora do ectrópio palpebral congênito / Conservative management of congenital eversion of the eyelids

Resumo Ectrópio palpebral congênito é o termo utilizado para descrever a ocorrência da eversão das pálpebras, seja ela superior ou inferior, presente ao nascimento. Trata-se de uma afecção rara com reduzido número de casos publicados no meio científico desde 1896, ano em que o primeiro relato foi documentado. O objetivo desse trabalho é descrever um caso de abordagem conservadora do Ectrópio Palpebral Congênito, evidenciando as suas principais características, importância do diagnóstico precoce e conduta adequada para o seu tratamento. Este é um estudo transversal, retrospectivo e documental baseado na metodologia de relato de caso que envolve um recém-nascido do sexo feminino que apresentou eversão palpebral unilateral e foi tratada de maneira conservadora, obtendo melhora do quadro com satisfatório resultado estético e funcional.

Abstract Congenital eyelid ectropion is the term used to describe the eversion of the eyelids, be it in the upper or lower lid, present at birth. It is a rare condition with a reduced number of cases published in scientific world since 1896, the year it was first reported. The objective of this work is to describe a case of Congenital Ectropion treated conservatively, emphasizing its main characteristics, importance of early diagnosis and appropriate treatment. This is a cross-sectional, retrospective and documentary study based on the methodology of case report involving a female newborn who presented unilateral palpebral eversion at birth and was treated conservatively, showing a satisfactory and functional improvement of the condition.

Lateral Canthal Clefts of the Eyelid.

PURPOSE: Facial clefts are congenital anomalies classified by Tessier based on their anatomical position. Tessier 8 craniofacial clefts extend from the lateral canthus to the temporal region, including bone cleft at the frontozygomatic suture, and it is characterized by the interposition of a strip of skin at the lateral canthus that disrupts the continuity of the orbicularis muscle, preventing its normal functioning. METHODS: This is a retrospective study of 6 patients with congenital eyelid coloboma, of whom 5 underwent surgery for the removal of dermolipoma and reconstruction of the lateral canthus. After surgery, the shape and symmetry of the lid fissure was restored, and motility was maintained. Vertical and horizontal measurements of the palpebral fissure were carried out before and after surgery. RESULTS: Five cases of lateral colobomas were evaluated after surgical treatment up to a year post operatively. The surgical correction with limited resection of the tumor was very effective, and the resulting small horizontal scar almost disappeared over time. In all cases, motility was maintained, and there were no cases of symblepharon. After surgery, there was improvement in the shape and symmetry of the eyelid fissures. CONCLUSIONS: Tessier' Number 8 facial cleft coloboma is characterized by the interposition of a skin strip, constituting a dermolipoma between the upper and lower eyelids that disrupts the continuity of the orbicularis muscle, and lateral bone alteration. The surgical correction of dermolipoma should be performed conservatively with limited resection of the tumor. A simple canthoplasty was very effective, and the small scar practically disappears over time. The absences of bone alteration in the cases presented suggest a unusual variation of lateral canthal cleft.

Treating Tear Trough Deformity: Transconjunctival Blepharoplasty with Fat Pad Repositioning and Fixation in the Intranasal Mucosa-18 Years' Experience.

INTRODUCTION: With aging, progressive changes occur in the eyelid region. The novel technique for repositioning of the fat pads described herein addresses Hester classification type II, lower eyelid aging with minimal decrease in the eyelid/cheek juncture. MATERIALS AND METHODS: In this retrospective study of patients undergoing surgery at our clinic between 2000 and 2018, 92 were classified as Hester II and a transconjunctival surgical procedure was performed with repositioning of the fat pads and intranasal fixation assisted by the Casagrande needle. RESULTS: Erasure of the nasojugal fold was observed in all patients, offering a greater uniformity in the convexity of the middle third and resulting in better rejuvenation of the target area while eliminating visible scarring from a suture through the skin. DISCUSSION: The repositioning of fat pads using intranasal fixation offers the necessary anchoring qualities without worrying about unsightly scars or the need to remove stitches early, which can decrease the proper scarring and adhesion of the pads in their new pockets. CONCLUSION: The quality and longevity of the results of this retrospective study allow us to offer this novel fat pad fixation method in transconjunctival blepharoplasty. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these evidence-based medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Trochlear-oculomotor synkinesis: another congenital cranial dysinnervation disorder? / Sincinesia troclear-oculomotora: outro distúrbio congênito de denervação craniana?

ABSTRACT This report documents an unusual phenomenon. A 6-year-old girl with trochlear-oculomotor synkinesis presented with superior oblique and palpebral levator co-contraction. The literature was reviewed and the possibility of classifying this entity as a congenital cranial dysinnervation disorder was speculated.

RESUMO Este relato descreve um fenômeno incomum. Uma menina de 6 anos com sincinesia troclear-oculomotora apresentou co-contração do oblíquo superior e do levantador da pálpebra. A literatura foi revisada e especulou-se a possibilidade de classificar essa desordem como um distúrbio da congenital cranial dysinnervation disorder.

Trochlear-oculomotor synkinesis: another congenital cranial dysinnervation disorder?

This report documents an unusual phenomenon. A 6-year-old girl with trochlear-oculomotor synkinesis presented with superior oblique and palpebral levator co-contraction. The literature was reviewed and the possibility of classifying this entity as a congenital cranial dysinnervation disorder was speculated.

Association between clinical characteristics, quality of life, and sleep quality in patients with periorbital hyperchromia.

INTRODUCTION: Periorbital hyperchromia (POH) is a multifactorial condition, precipitated or aggravated by sleep disorders, which negatively affects quality of life (QoL). The aim of this study was to evaluate the impact of POH on QoL, sleep quality, and dissatisfaction of affected patients. METHODS: In this cross-sectional study of male and female patients over 18 years, participants were examined, their demographic data were registered, and Dermatology Quality of Life Index (DLQI), Pittsburgh Sleep Quality Index (PSQI-BR), and Visual Analogue Scale (VAS) were used to assess dissatisfaction. RESULTS: Patients (n = 100) were mostly women (91%) with a mean age of 36.9 years and POH duration of 18.32 years. Phototypes II (24%) and III (60%) were predominant. A total of 33% reported 4-6 hours and 66% reported over 6 hours of sleep per night. POH was classified as mild (59%), moderate (37%), or severe (4%). Mean dissatisfaction with POH was 6.9, PSQI was 6.04, and DLQI was 4.92. There was a significant difference in the dissatisfaction scale (P < .005) between men and women. Women reported worse QoL (P < .001) and higher dissatisfaction (P < .0001). A correlation between DLQI and disease duration was found. CONCLUSION: Periorbital hyperchromia negatively impacts patients' QoL. Dissatisfaction is directly related to disease severity.

Do you know this syndrome? Ascher´s syndrome: clinical findings of little known triad.

Ascher's syndrome consists of double lip, blepharochalasis and sometimes non-toxic thyroid enlargement. It is a rare, benign, rarely reported, and sometimes misdiagnosed condition that most often affects patients under 20 years old. The etiology remains unknown, although factors such as trauma, hormonal dysfunction and heredity have been suggested. Treatment based on surgical intervention is indicated to improve aesthetics or function. The presented case shows a patient diagnosed with Ascher's syndrome based on clinical findings such as double lip and blepharochalasis.

Do you know this syndrome? Ascher´s syndrome: clinical findings of little known triad

Abstract: Ascher's syndrome consists of double lip, blepharochalasis and sometimes non-toxic thyroid enlargement. It is a rare, benign, rarely reported, and sometimes misdiagnosed condition that most often affects patients under 20 years old. The etiology remains unknown, although factors such as trauma, hormonal dysfunction and heredity have been suggested. Treatment based on surgical intervention is indicated to improve aesthetics or function. The presented case shows a patient diagnosed with Ascher's syndrome based on clinical findings such as double lip and blepharochalasis.

Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.

Manitoba-oculo-tricho-anal (MOTA) syndrome is an uncommon condition arising from biallelic mutations of FREM1 gene and clinically characterized by a variable spectrum of eyelid malformations, aberrant hairline, bifid or broad nasal tip, and gastrointestinal anomalies. In this report, we describe a patient with a phenotype compatible with MOTA syndrome (aberrant anterior hair line, hypertelorism, unilateral anophthalmia, and bifid and broad nasal tip) in whom two novel FREM1 mutations (c.305 A > G, p.Asp102Gly; and c.2626delG, p.Val876Tyrfs*16) were identified in the compound heterozygous state, thus broadening the mutational spectrum of the disease. We performed a literature review of the clinical and genetic features of individuals carrying FREM1 mutations.

Defective eyelid leading edge cell migration in C57BL/6-corneal opacity mice with an "eye open at birth" phenotype.

Development of the eyelid requires coordination of the cellular processes involved in proliferation, cell size alteration, migration, and cell death. C57BL/6J-corneal opacity (B6-Co) mice are mutant mice generated by the administration of N-ethyl-N-nitrosourea (100 mg/kg). They exhibit the eyelids open at birth phenotype, abnormal round cell shape from tightened F-actin bundles in leading edge keratinocytes at E16.5, and gradual corneal opacity with neovessels. The tip of the leading edge in B6-Co mice did not move forward, and demonstrated a sharp peak shape without obvious directionality. Analysis of the biological characteristics of B6-Co mice demonstrated that abnormal migration of keratinocytes could affect eyelid development, but proliferation and apoptosis in B6-Co mice had no effect. Mutant gene mapping and sequence analysis demonstrated that in B6-Co mice, adenosine was inserted into the untranslated regions, between 3030 and 3031, in the mRNA 3'-terminal of Fgf10. In addition, guanine 7112 was substituted by adenine in the Mtap1B mRNA, and an A2333T mutation was identified in Mtap1B. Quantitative real-time polymerase chain reaction analysis showed that expression of the Hbegf gene was significantly down-regulated in the eyelids of B6- Co mice at E16.5, compared to B6 mice. However, the expression of Rock1, Map3k1, and Jnk1 genes did not show any significant changes. Abnormal keratinocyte migration and down-regulated expression of the Hbegf gene might be associated with impaired eyelid development in B6-Co mice.

Criptoftalmos bilateral / Bilateral cryptophthalmos

El criptoftalmos se origina por un defecto congénito en la migración de la cresta neural que da lugar a un desarrollo anormal de los párpados y de las estructuras oculares anteriores. Se presenta la evolución de un lactante masculino de 6 meses de edad con criptoftalmos. Al examen oftalmológico se constata agenesia de los párpados. La piel transcurre desde la frente pasando por encima del esbozo de los globos oculares hasta la mejilla y ausencia de toda la arquitectura palpebral. El resto de las estructuras faciales son normales. El diagnóstico fue basado en la historia clínica y la realización de pruebas como la ecografía ocular, la tomografía axial computadorizada de órbita y cráneo, así como otros estudios, los cuales confirman el diagnóstico(AU)

Cryptophthalmos comes from a congenital defect in the neural crest migration that gives rise to abnormal development of eyelids and of the anterior ocular structures. Here is the case of a male 6 months-old infant with cryptophthalmos. The ophthalmological exam revealed eyelid agenesis. The infant´s skin went down from the forehead, passing over the eyeball up to the cheek, but the eyelid architecture was absent. The rest of the facial structures were normal. The diagnosis was based on the medical history and some tests as the ocular echography, the orbit and cranial computerized tomography and other studies which confirm the diagnosis(AU)

Criptoftalmos bilateral / Bilateral cryptophthalmos

El criptoftalmos se origina por un defecto congénito en la migración de la cresta neural que da lugar a un desarrollo anormal de los párpados y de las estructuras oculares anteriores. Se presenta la evolución de un lactante masculino de 6 meses de edad con criptoftalmos. Al examen oftalmológico se constata agenesia de los párpados. La piel transcurre desde la frente pasando por encima del esbozo de los globos oculares hasta la mejilla y ausencia de toda la arquitectura palpebral. El resto de las estructuras faciales son normales. El diagnóstico fue basado en la historia clínica y la realización de pruebas como la ecografía ocular, la tomografía axial computadorizada de órbita y cráneo, así como otros estudios, los cuales confirman el diagnóstico(AU)

Cryptophthalmos comes from a congenital defect in the neural crest migration that gives rise to abnormal development of eyelids and of the anterior ocular structures. Here is the case of a male 6 months-old infant with cryptophthalmos. The ophthalmological exam revealed eyelid agenesis. The infant´s skin went down from the forehead, passing over the eyeball up to the cheek, but the eyelid architecture was absent. The rest of the facial structures were normal. The diagnosis was based on the medical history and some tests as the ocular echography, the orbit and cranial computerized tomography and other studies which confirm the diagnosis(AU)