Introdução
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Esta é uma lista de doenças que começam com a letra "A".
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<1/50kMuito rara
1/20kRara
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Genética e causas
O que está alterado no DNA e como passa nas famílias
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Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
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🇧🇷 Atendimento SUS — Anquiloblefaron filiforme adnatum isolado
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Publicações mais relevantes
Bilateral Ankyloblepharon Filiforme Adnatum: A Case Report Highlighting the Importance of Early Recognition and Treatment.
Ankyloblepharon filiforme adnatum (AFA) is a rare congenital anomaly characterized by bands of tissue connecting the upper and lower eyelids, which can lead to visual deprivation and subsequent amblyopia if left untreated. We report a case of a one-month-old girl who presented with bilateral eyelid adhesions causing restricted eyelid opening. The patient was born at 39 weeks of gestation with no prenatal complications. Physical examination revealed tissue bands connecting the eyelids bilaterally, with more severe restriction on the left side. Comprehensive systemic evaluation ruled out associated syndromic conditions, confirming isolated AFA. Due to the risk of deprivation amblyopia during the critical period of visual development, surgical separation of the eyelid adhesions was performed under general anesthesia at three months of age using electrocautery. Histopathological examination confirmed keratinized stratified squamous epithelium. Postoperatively, significant hyperopia and anisometropia were noted, which showed a myopic shift at two-month follow-up. Both eyelids remained well separated with good fixation and tracking in both eyes. This case emphasizes the critical importance of early recognition and prompt surgical intervention in AFA to prevent visual developmental complications. Timely management is essential to avoid stimulus deprivation amblyopia and ensure optimal visual outcomes, particularly in bilateral or extensive cases where the risk of visual impairment is heightened.
Ankyloblepharon filiforme adnatum in a preterm neonate: a case report highlighting early recognition and surgical management.
Ankyloblepharon filiforme adnatum (AFA) is a rare congenital anomaly characterized by fine bands of tissue connecting the upper and lower eyelids, potentially obstructing vision if left untreated. We report a case of a preterm male neonate born at 33 weeks and 4 days of gestation via emergency cesarean section due to maternal preeclampsia. On examination, the infant had bilateral eyelid fusion consistent with AFA, confirmed by ophthalmologic evaluation. Surgical division of the adhesions was performed under general anesthesia with no complications. Postoperative recovery was uneventful, and follow-up confirmed clear corneas and normal ocular structures. This case highlights the importance of early recognition and prompt surgical management of AFA to prevent visual deprivation, particularly in preterm infants. It also underscores the need to assess for possible syndromic associations, although this case appeared isolated. Awareness of AFA among neonatologists and ophthalmologists can support timely diagnosis and intervention.
Ankyloblepharon Filiforme Adnatum in a 3-day-old Neonate: A Case Report.
Ankyloblepharon filiforme adnatum (AFA) is a rare congenital anomaly consisting of partial or complete fusion of the eyelid margins. It is usually isolated and benign, but its presence should alert the neonatologist as it may rarely be associated with other disorders. We present a case of a 3-day-old newborn presenting with isolated AFA at birth.
Isolated Ankyloblepharon Filiforme Adnatum: A Case Report.
Ankyloblepharon filiforme adnatum (AFA) is a rare congenital anomaly consisting of partial or complete adhesion of the upper and lower eyelids, and it can be an isolated finding, or associated with other multisystemic anomalies. Its presence should alert the neonatologist of the need for a detailed systemic evaluation. We present a twenty day old baby who presented to our facility on the 8th of August 2019, with bilateral adhesions of the upper and lower eyelids, and had them excised with the use of McPherson's forceps and Vannas scissors, with no sedation or anesthesia. Timely separation of the lids is important to prevent the onset of stimulus deprivation amblyopia.
Simple surgical approach for treatment of ankyloblepharon filiforme adnatum: A case report.
Ankyloblepharon flliforme adnatum (AFA) is a rare congenital abnormality of the eyelids. Upper and lower eyelids are joined by single or multiple bands. It is usually isolated but can be associated with ophtalmic and systemic diseases. AFA is potentially amblyopic condition. Treatment is quick, safe, and minimizes the risk of amblyopia. We report a case of newborn with isolated AFA at birth, treated by surgical excision of the band tissue. The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling. The diagnosis of a TP63-related disorder is established in a proband with suggestive findings and a heterozygous pathogenic variant in TP63 identified by molecular genetic testing. Treatment of manifestations: A multidisciplinary team of specialists in clinical genetics, dermatology, ophthalmology, otolaryngology, audiology, dentistry and prosthodontics, plastic surgery, nutrition/gastroenterology, and psychology is recommended. Skin erosions are treated with gentle wound care and periodic, dilute bleach soaks to prevent secondary infection, and infants with severe skin erosions are monitored and treated aggressively for dehydration, electrolyte imbalances, malnutrition, and infection. Wigs can be used for sparse hair and alopecia; dentures may be considered in early childhood and dental implants in the teens or early adulthood. Cleft lip/palate is managed per routine protocols; limb malformations are treated with occupational therapy and surgery as needed to optimize function. Surveillance: Regular attention to dental needs and possible hearing loss. The TP63-related disorders are inherited in an autosomal dominant manner. Approximately 30% of individuals diagnosed with a TP63-related disorder have an affected parent. The proportion of individuals with a TP63-related disorder caused by a de novo TP63 pathogenic variant is approximately 70%. If a parent of the proband is affected and/or is known to have the pathogenic variant identified in the proband, the risk to the sibs is 50%. Once the TP63 pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.
📚 EuropePMC2 artigos no totalmostrando 10
Bilateral Ankyloblepharon Filiforme Adnatum: A Case Report Highlighting the Importance of Early Recognition and Treatment.
CureusAnkyloblepharon filiforme adnatum in a preterm neonate: a case report highlighting early recognition and surgical management.
Journal of surgical case reportsAnkyloblepharon Filiforme Adnatum in a 3-day-old Neonate: A Case Report.
Sisli Etfal Hastanesi tip bulteniIsolated Ankyloblepharon Filiforme Adnatum: A Case Report.
Journal of the West African College of SurgeonsSimple surgical approach for treatment of ankyloblepharon filiforme adnatum: A case report.
Nigerian journal of clinical practiceBilateral ankyloblepharon: more than a simple malformation.
Archivos de la Sociedad Espanola de OftalmologiaAnkyloblephron Filiform Adnatum: A Case Report.
Nepalese journal of ophthalmology : a biannual peer-reviewed academic journal of the Nepal Ophthalmic Society : NEPJOPHAnkyloblepharon Filiforme Adnatum in a Newborn.
AJP reports[A neonate who could not open her eye].
Nederlands tijdschrift voor geneeskunde[Ankyloblepharon filiforme adnatum].
Journal francais d'ophtalmologieAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Bilateral Ankyloblepharon Filiforme Adnatum: A Case Report Highlighting the Importance of Early Recognition and Treatment.
- Ankyloblepharon filiforme adnatum in a preterm neonate: a case report highlighting early recognition and surgical management.
- Ankyloblepharon Filiforme Adnatum in a 3-day-old Neonate: A Case Report.
- Isolated Ankyloblepharon Filiforme Adnatum: A Case Report.
- Simple surgical approach for treatment of ankyloblepharon filiforme adnatum: A case report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:91397(Orphanet)
- MONDO:0019626(MONDO)
- GARD:19168(GARD (NIH))
- Q56014334(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
