ABSTRACT
Objective:To analyze pathogenic mutations in a child with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome.Methods:Clinical data were collected from a patient with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, and DNA was extracted from peripheral blood samples from the patient and his parents. High-throughput sequencing was performed in the patient by using a gene panel targeting hereditary skin diseases, aiming to determine sites of disease-causing gene mutations. Then, Sanger sequencing was conducted to bidirectionally verify the mutations in the patient and his parents.Results:The male patient aged 3 years and 9 months, and presented with extensive erythema, scales, erosions as well as repeated infections and erosions of the scalp after birth. Reticulated hyper- and hypopigmented patches and scars left on the trunk and limbs after healing of erosions. Physical examination also showed sparse scalp hair, absence of most eyebrows and eyelashes, cleft palate, dysplastic teeth, dystrophic finger and toe nails, and deformed ears without ankyloblepharon. Genetic testing of the patient showed a novel heterozygous missense mutation c.1790T>A (p.Ile597Asn) in the TP63 gene, which had not been reported previously and was rated as pathogenic according to the American College of Medical Genetics and Genomics guidelines. This mutation was not identified in either of his parents.Conclusion:The novel heterozygous missense mutation c.1790T>A in the TP63 gene probably contributes to ankyloblepharon-ectodermal defects-cleft lip/palate syndrome in the patient, which expands genotypic and phenotypic spectrum of this disease.
ABSTRACT
El anquilobléfaron es la fusión parcial o total de los bordes palpebrales. En dependencia de la localización, este puede clasificarse como medial o interno y lateral o externo. Es una malformación congénita que constituye una condición muy infrecuente. Puede estar genéticamente determinada, aunque su causa exacta o mecanismo de producción no se conoce claramente. El primer caso corresponde a una lactante femenina, de 57 días de nacida, antecedentes de madre con paladar hendido ya operado. Al examen oftalmológico se constata en el ojo derecho fusión a nivel de todo el borde palpebral y en el izquierdo brida hacia sector temporal, además de presentar paladar hendido. El segundo caso, es una paciente femenina de 24 meses de edad, que en el examen ocular se observa brida que fusiona ambos bordes palpebrales del ojo izquierdo, en zona temporal. Se confirma diagnóstico de anquilobléfaron. En el primer caso se decide, por la edad, mantener una conducta expectante y posponer el tratamiento quirúrgico hasta que se realice la cirugía de la fisura labial, la cual se realiza a los 3 meses. En ambos casos la conducta fue quirúrgica, con buenos resultados estéticos y funcionales. El diagnóstico de esta anomalía es clínico y el examen físico minucioso, el cual, unido a los conocimientos del especialista sobre estas anomalías, juega un papel primordial. El tratamiento siempre es quirúrgico, el procedimiento a ejecutar es sencillo, incluso cuando requiere de reconstrucción palpebral(AU)
Ankyloblepharon is the partial or total fusion of eyelid margins. According to its location, it may be classified as medial or internal and lateral or external. This congenital malformation is a very rare condition. Though it may be genetically determined, its exact cause or development mechanism is not clearly known. The first case is a 57-day-old female infant whose mother had undergone cleft palate surgery. Ophthalmological examination revealed fusion of the entire eyelid margin of the right eye and bridling toward the temporal sector of the left eye, as well as a cleft palate. The second case is a 24-month-old female patient whose ophthalmological examination revealed bridling fusing the two eyelid margins of the left eye in the temporal zone. Ankyloblepharon diagnosis was confirmed. In the first case, due to the patient's age it was decided to postpone surgical treatment until lip fissure surgery was performed at 3 months. In both cases management was surgical, with good esthetic and functional results. Diagnosis of this condition is based on meticulous clinical and physical examination, supported by the decisive role played by the specialist's knowledge about these anomalies. Treatment is always surgical and the procedure to be performed is simple, even when palpebral reconstruction is required(AU)
Subject(s)
Humans , Female , Infant , Child, Preschool , Congenital Abnormalities/diagnostic imaging , Eyelid Diseases/surgery , Meibomian Glands/abnormalities , Infant, Newborn, Diseases/diagnosisABSTRACT
We report ankyloblepharon filiforme adnatum (AFA) along with associated skin lesions in a 7‑day‑old child from South India. It could be a variant of the well described ankyloblepharon‑ectodermal defects‑cleft lip and palate syndrome also called Hay–Wells syndrome wherein AFA, skin lesions, and clefting are characteristic. The ocular features, genetic inheritance, and possible systemic associations, along with the options for management, are discussed. The need for awareness among ophthalmologists of its systemic associations is discussed to ensure that proper multidisciplinary care is offered to the individuals affected by this rare disorder. This article also highlights the unusual hypopigmented skin lesions found in this infant, which has been scantily reported in the literature, as a possible variation in patients of Indian ethnicity.
ABSTRACT
Amniotic membrane transplantation (AMT) has gained widespread acceptance in various ocular diseases. Its anti-inflammatory activity and close resemblance to conjunctival epithelium has propagated it as an ideal substitute for ocular surface reconstruction. Here is a case report of a complicated case of recurrent symblepharon and ankyloblepharon after fire cracker injury that was managed successfully with AMT with excellent cosmetic results.
ABSTRACT
Amniotic membrane transplantation (AMT) has gained widespread acceptance in various ocular diseases. Its anti-inflammatory activity and close resemblance to conjunctival epithelium has propagated it as an ideal substitute for ocular surface reconstruction. Here is a case report of a complicated case of recurrent symblepharon and ankyloblepharon after fire cracker injury that was managed successfully with AMT with excellent cosmetic results.
ABSTRACT
PURPOSE: To report a case of ankyloblepharon filiforme adnatum in a newborn male. CASE SUMMARY: A 4-day-old male was referred for fused right eyelids with unremarkable other pediatric examinations. Ocular examination under general anesthesia revealed partial fusion of his right upper and lower eyelids by a 4 mm-wide band of tissue which arose from the skin of the upper and lower eyelids. The adhesion was separated by sharp scissors and no other ocular abnormalities were revealed. CONCLUSIONS: Ankyloblepharon filiforme adnatum is a rare congenital malformation. In this case, the band of tissue connecting the upper and lower eyelids arose not from the eyelid margin but from the eyelid skin, which is even rarer, thus supporting the theory that this condition is due to the fusion of eyelids at abnormal positions, and not due to problems during the separation of eyelids.
Subject(s)
Humans , Infant, Newborn , Male , Anesthesia, General , Cleft Lip , Cleft Palate , Eye Abnormalities , Eyelids , SkinABSTRACT
Fusion of the eyelid margins is normal in human fetal development, but it is abnormal at birth. The approximated margins of developing eyelids fuse during the 9 th week of gestation and remain fused until the end of the 5 th month of gestation. Subsequently, they became separated although the process may not be completed until the 7 th month of gestation. On occasion, the entire or a portion of eyelid margins remain fused postnatally, resulting in a spectrum of eyelid abnormalities that are usually classified according to the morphology. Ankyloblepharon filiforme adnatum comprises single or multiple fine bands of extensile tissue connecting the lid margins at the grey line and it reduces the palpebral fissure by interfering with the movements of lids. This abnormality has been reported as an isolated finding, in association with other anomalies, or as a part of a well-defined syndrome. We have experienced a case with this syndrome. Then we report this rare case with brief review of literature.