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(A and B) RE: large tumour concentrations with type I regression pattern (predominant calcification) and diffuse vitreous seeding. (C and D) LE: tumour area occupying the entire inferonasal quadrant with multiple subretinal seedings and diffuse in posterior pole, including the macula.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "P. Llavero-Valero, A.M. Garrido-Hermosilla, M.C. Díaz-Ruiz, D. García Aldana, A. Fernández-Teijeiro Álvarez, F. Espejo-Arjona" "autores" => array:6 [ 0 => array:2 [ "nombre" => "P." "apellidos" => "Llavero-Valero" ] 1 => array:2 [ "nombre" => "A.M." "apellidos" => "Garrido-Hermosilla" ] 2 => array:2 [ "nombre" => "M.C." "apellidos" => "Díaz-Ruiz" ] 3 => array:2 [ "nombre" => "D." "apellidos" => "García Aldana" ] 4 => array:2 [ "nombre" => "A." "apellidos" => "Fernández-Teijeiro Álvarez" ] 5 => array:2 [ "nombre" => "F." 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Barreiro-González, H. Barranco-González, J. Aviñó-Martínez, E. López Blanco, P. Gutiérrez Ontalvilla, M. Évole-Buselli" "autores" => array:6 [ 0 => array:4 [ "nombre" => "A." "apellidos" => "Barreiro-González" "email" => array:1 [ 0 => "antoniobarreiro3@gmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "H." "apellidos" => "Barranco-González" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "J." "apellidos" => "Aviñó-Martínez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 3 => array:3 [ "nombre" => "E." "apellidos" => "López Blanco" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 4 => array:3 [ "nombre" => "P." "apellidos" => "Gutiérrez Ontalvilla" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 5 => array:3 [ "nombre" => "M." "apellidos" => "Évole-Buselli" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Servicio de Oftalmología, Hospital Universitario y Politécnico La Fe, Valencia, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicio de Cirugía Plástica, Hospital Universitario y Politécnico La Fe, Valencia, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Servicio de Dermatología, Hospital Universitario y Politécnico La Fe, Valencia, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "<span class="elsevierStyleItalic">Corresponding author</span>." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Reconstrucción palpebral multidisciplinar en el síndrome de Barber-Say: a propósito de un caso" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0010" "etiqueta" => "Fig. 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 680 "Ancho" => 905 "Tamanyo" => 95818 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Widespread hypertrichosis on the back of the newborn.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">The Barber-Say (BSS) syndrome is a rare congenital malformation characterized by an alteration in the structures derived from the ectoderm. First described in 1982,<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">1</span></a> approximately 20 cases have been documented to date. Very few publications have reported the palpebral surgical approach for these patients, making it difficult to resort to therapeutic protocols. In the case presented herein, differential diagnostic is discussed on the basis of genetic tests, revealing the main clinic findings and the oculoplastic interventions carried out on the patient during 4 years follow-up. This is the first patient diagnosed with BSS with the application of forearm and supraclavicular grafts.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Clinic case report</span><p id="par0010" class="elsevierStylePara elsevierViewall">Newborn, 2 days old, referred to the intensive care unit of the authors’ hospital due to polymalformation syndrome. The patient, born on-term through Cesarean delivery of an uncomplicated pregnancy. Ophthalmological examination revealed hypertelorism and inferior palpebral ectropion (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>), for which reason the first therapeutic measure was manual palpebral closure and continuous lubrication. Despite this treatment, the patient developed inferior dotted keratitis which, together with the failure of the lacrimal pump due to palpebral malpositioning, accounted for the epiphora exhibited by the patient. The rest of anterior and posterior pole were normal. At the clinic level, the patient exhibited widespread hypertrichosis (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>), broad nose, displasic ears with low positioning, retrognatia, long filter, wide mouth with thin lips and hypoplastic nipples. The left testicle was housed in the groin canal, for which reason orchidopexy was performed. Molecular DNA analysis identified p.Glu75Gln mutation of the <span class="elsevierStyleItalic">TWIST2</span> gene in heterozygosis, which confirmed the BSS diagnostic.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">Surgical approach of ectropion was initiated at the age of 3 months through lateral tharsorraphy with absorbable 6/0 suture to avoid exposure keratopathy and achieve adequate corneal protection. Six months later, skin grafts from the palm side of both forearms were used for upper palpebral reconstruction and from the retroauricular area for lower palpebral reconstruction. Donor areas were closed with 4/0 absorbable suture. After careful dissection of the receiving area, the grafts were sutured with 6/0 absorbable suture. Finally, temporal bilateral tharsorraphy was performed with 4/06 silk to avoid possible retractions.</p><p id="par0020" class="elsevierStylePara elsevierViewall">However, 9 months later, post-surgery tissue retraction in the left upper and lower eyelids and the upper right eyelid required subsequent surgery. On this occasion, graphs were taken from both supraclavicular areas, sutured with 6/0 absorbable suture at the palpebral level. The donor areas were closed with 4/0 absorbable suture, taking fat from the internal side of both thighs, centrifuged according to Coleman's technique,<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">2</span></a> after which the intermediate adipose tissue was infiltrated in the left lower eyelid and the external canthus of both upper eyelids in order to increase volume.</p><p id="par0025" class="elsevierStylePara elsevierViewall">One year and 3 months after the last surgical procedure the result was reasonably satisfactory, although left upper palpebral retraction was evidenced which disappeared with palpebral closure, indicating the presence of adherences of the upper eyelid elevator muscle. The patient was again treated with liposuction of the internal side of both thighs for new adipose tissue infiltration using a mini-Toledo fat infiltration cannule with fork tips in order to release said adherences. Seven cc of fat were isolated, injecting a volume of 2<span class="elsevierStyleHsp" style=""></span>cc in both left eyelids.</p><p id="par0030" class="elsevierStylePara elsevierViewall">At the same time as the palpebral reconstruction surgeries, the patient was treated with photodepilative treatment with alexandrite laser in order to eliminate hair. After 4 years follow-up (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>A and B) a satisfactory esthetic and functional result of the eyelids was achieved.</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0035" class="elsevierStylePara elsevierViewall">Ectropion, hypertelorism, hypertrichosis and other dysmorphic features of the patient gave rise to a differential diagnostic between BSS, ablepharon-macrostomy syndrome (AMS) and Setleis syndrome (SS), the latter also known as focal dermofacial dysplasia type III. The phenotypic similarity of said 3 syndromes is considerable and, even though differentiation is possible, overlap is so frequent that some authors<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">3</span></a> conclude that with the passage of time they will be grouped in the same range.</p><p id="par0040" class="elsevierStylePara elsevierViewall">BSS and AMS occurred due to heterozygotic mutations of the <span class="elsevierStyleItalic">TWIST2</span> gene. This gene is located in the 2q37.3 chromosome and codes a protein that acts as a negative transcription regulator. Accordingly, it intervenes in the differentiation of mesenchymal cells of dermal and cartilage tissue.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">3</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Marchegiani et al.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">4</span></a> found that the phenotypic overlap of BSS and AMS could be explained at the molecular level because the only difference between these 2 syndromes is the nature of the substituted amino acid, i.e., a lysine in position 75 that derived in the AMS phenotype, whereas its substitution by residue of glutamine or alanine gave rise to BSS. In the case of SS, the molecular heterogeneity of its origin is more complex and varied, with the ability of giving rise among others to nonsense homozygote mutations affecting the TWIST2 gene.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">3</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">One of the main periocular signs includes the “underdevelopment” of the eyelids, mainly the lower eyelid. However, this underdevelopment mainly compromises the anterior lamella, which causes the medial and posterior lamella to protrude as an ectropion, in turn giving rise to lagophthalmos. The epiphora that these patients can exhibit has been described as a consequence of lacrimal pathway stenosis or lacrimal point malpositioning.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">3</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">In what concerns neuro-ophthalmological alterations, 3 patients were found in the literature with BSS diagnostic with strabismus and one case of nystagmus.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">3</span></a> As regards funduscopic alterations, one documented case has been found with the presence of subretinal drusenoid deposits.<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">5</span></a> Other palpebral and periocular alterations include euryblepharon, lengthening of the horizontal palpebral fissures, impairment of the orbicular and frontal muscles, poor development of tharsal plates, microblepharon, telecanthus and sparsely populated eyebrows.<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">7</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">Since the publication of the first case in 1982<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">1</span></a> by pediatrician Nancy D. Barber and pediatrician-geneticist Burhan Say, approximately 20 cases have been reported although less than half have described surgical management which was a reconstruction challenge due to the size of the defect and the fact that the results of standard surgical techniques were not known as well as more frequent cases, such as traumatism or oncological reconstruction (after surgery or radiotherapy). In addition, any delay in palpebral reconstruction would have damaged the corneal surface and impaired the adequate development of visual acuity, in addition to the psychological impact of the disfigurement caused by the syndrome.</p><p id="par0065" class="elsevierStylePara elsevierViewall">Ng and Rajguru<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">6</span></a> utilized centrally located gold weights in both upper eyelids and mid-facial suspenders to correct both lower eyelids, supplementing the technique with lateral tarsorrhaphy, canthoplasty, facial lifting and botulinum toxin. Other cases describe the use of retroauricular skin grafts.<a class="elsevierStyleCrossRefs" href="#bib0090"><span class="elsevierStyleSup">8,9</span></a></p><p id="par0070" class="elsevierStylePara elsevierViewall">In the present case it was decided to obtain full thickness grafts of the ventral side of forearms, the retroauricular and supraclavicular areas after discarding any dermatological, vascular or orthopedic contraindications. The advantage of grafts from said areas is the similarity of texture and color with the receiving area, low population of hair follicles and other skin accessories, in addition to low previous solar exposure. Even though the size of the grafts were considered to be enough for reconstructing the palpebral defect without creating stress in the donor area, the characteristic alterations of the syndrome could facilitate tissue retraction as described in other cases,<a class="elsevierStyleCrossRef" href="#bib0095"><span class="elsevierStyleSup">9</span></a> which could lead to the failure of surgery and required subsequent interventions. Palpebral fatty infiltration with the Coleman technique<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">2</span></a> completed and improved surgical results.</p><p id="par0075" class="elsevierStylePara elsevierViewall">No complications have been registered after the latest surgery and the patient progresses positively both at the esthetic and functional level, being able to completely closing the eyes without exhibiting epiphora or palpebral stiffness.</p><p id="par0080" class="elsevierStylePara elsevierViewall">The case presented herein is the second describing a Spanish patient with BSS,<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">10</span></a> which emphasizes that both the phenotype and genotype of the disease are similar in different ethnic groups. In addition, the present patient is one of the few reported in the literature having undergone such a high number of surgical interventions for his age, as well as being the first patient with said syndrome receiving supraclavicular and forearm grafts. Finally, this case illustrates the importance of a multidisciplinary approach for palpebral reconstruction to achieve a holistic approach to achieve the best results for the patient.</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conflict of interests</span><p id="par0085" class="elsevierStylePara elsevierViewall">No conflict of interests was declared by the authors.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:9 [ 0 => array:3 [ "identificador" => "xres1173020" "titulo" => "Abstract" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst0005" ] ] ] 1 => array:2 [ "identificador" => "xpalclavsec1097154" "titulo" => "Keywords" ] 2 => array:3 [ "identificador" => "xres1173019" "titulo" => "Resumen" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst0010" ] ] ] 3 => array:2 [ "identificador" => "xpalclavsec1097153" "titulo" => "Palabras clave" ] 4 => array:2 [ "identificador" => "sec0005" "titulo" => "Introduction" ] 5 => array:2 [ "identificador" => "sec0010" "titulo" => "Clinic case report" ] 6 => array:2 [ "identificador" => "sec0015" "titulo" => "Discussion" ] 7 => array:2 [ "identificador" => "sec0020" "titulo" => "Conflict of interests" ] 8 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2018-08-23" "fechaAceptado" => "2018-09-30" "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec1097154" "palabras" => array:6 [ 0 => "Barber-Say syndrome" 1 => "Ectropion" 2 => "Hypertelorism" 3 => "Oculoplastic surgery" 4 => "Skin grafts" 5 => "Tarsorrhaphy" ] ] ] "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec1097153" "palabras" => array:6 [ 0 => "Síndrome de Barber-Say" 1 => "Ectropion" 2 => "Hipertelorismo" 3 => "Cirugía oculoplástica" 4 => "Injertos dérmicos" 5 => "Tarsorrafia" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Barber-Say syndrome is an unusual dysplasia caused by the mutation of the <span class="elsevierStyleItalic">TWIST2</span> gene (2q37.3), which encodes a protein that acts at an epigenetic level. The case is presented of a 2-day-old male child in whom ectropion, hypertelorism, hypertrichosis and other dysmorphic features led to the clinical diagnosis of Barber-Say syndrome, which was later confirmed with genetic tests. Around 20 cases have been reported on this syndrome, of which less than half have described the surgical technique, as it represents a surgical challenge.</p><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">The approach in this case included a lateral tarsorrhaphy and skin grafts taken from the volar surface of the forearm, retroauricular area and supraclavicular fossa, as well as autologous lipografts from the inner side of both thighs for palpebral reconstruction. This is the first case of Barber-Say syndrome in which the use of skin grafts are taken from supraclavicular fossa and forearms.</p></span>" ] "es" => array:2 [ "titulo" => "Resumen" "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">El síndrome de Barber-Say es una infrecuente displasia producida por la mutación del gen <span class="elsevierStyleItalic">TWIST2</span> (2q37.3) que codifica una proteína que actúa a nivel epigenético. Presentamos el caso de un niño de 2 días en el que el ectropion, el hipertelorismo, la hipertricosis y demás rasgos dismórficos condujeron al diagnóstico clínico de síndrome de Barber-Say, posteriormente confirmado genéticamente. Alrededor de 20 casos se han publicado sobre este síndrome; sin embargo, en menos de la mitad se describe la técnica para abordar las malformaciones palpebrales, lo que supuso un reto quirúrgico.</p><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Nuestra actuación incluyó una tarsorrafia lateral y la toma de injertos de piel de la superficie palmar del antebrazo, área retroauricular y fosa supraclavicular, así como injertos grasos de la superficie interna de ambos muslos para la reconstrucción palpebral. Se trata del primer caso de síndrome de Barber-Say en el que se utilizan injertos supraclaviculares y del antebrazo.</p></span>" ] ] "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Barreiro-González A, Barranco-González H, Aviñó-Martínez J, López Blanco E, Gutiérrez Ontalvilla P, Évole-Buselli M. Reconstrucción palpebral multidisciplinar en el síndrome de Barber-Say: a propósito de un caso. Arch Soc Esp Oftalmol. 2019;94:196–199.</p>" ] ] "multimedia" => array:3 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 407 "Ancho" => 905 "Tamanyo" => 49275 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Pre-surgery image of the newborn, showing lower eyelid ectropion, sparsely populated eyebrows and hypertelorism.</p>" ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Fig. 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 680 "Ancho" => 905 "Tamanyo" => 95818 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Widespread hypertrichosis on the back of the newborn.</p>" ] ] 2 => array:7 [ "identificador" => "fig0015" "etiqueta" => "Fig. 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 770 "Ancho" => 905 "Tamanyo" => 90191 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">(A and B) Post-surgery appearance of the patient during the last visit to the hospital (age 4).</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:10 [ 0 => array:3 [ "identificador" => "bib0055" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Macrostomia, ectropion, atrophic skin, hypertrichosis and growth retardation" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "N. 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