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"documento" => "simple-article" "crossmark" => 1 "subdocumento" => "cor" "cita" => "Med Clin. 2022;158:246-7" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Letter to the Editor</span>" "titulo" => "Capillary and cutaneous hypopigmentation secondary to pazopanib" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "246" "paginaFinal" => "247" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Hipopigmentación capilar y cutánea secundaria a pazopanib" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 694 "Ancho" => 1255 "Tamanyo" => 109346 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Patient before and after experiencing rapid-onset capillary and cutaneous hypopigmentation induced by treatment with pazopanib.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Marina Meri-Abad, Ana Blasco Cordellat, Carlos Camps Herrero" "autores" => array:3 [ 0 => array:2 [ "nombre" => "Marina" "apellidos" => "Meri-Abad" ] 1 => array:2 [ "nombre" => "Ana" "apellidos" => "Blasco Cordellat" ] 2 => array:2 [ "nombre" => "Carlos" "apellidos" => "Camps Herrero" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0025775321003560" "doi" => "10.1016/j.medcli.2021.05.017" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775321003560?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020622000626?idApp=UINPBA00004N" "url" => "/23870206/0000015800000005/v1_202203050916/S2387020622000626/v1_202203050916/en/main.assets" ] "en" => array:14 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Image in medicine</span>" "titulo" => "Ophthalmological findings in a female with classical Fabry disease" "tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:1 [ "paginaInicial" => "248" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Fernando López-Herrero, Bosco González-Jáuregui, Magdalena Sotomayor-Toribio, José Luis Sánchez-Vicente" "autores" => array:4 [ 0 => array:2 [ "nombre" => "Fernando" "apellidos" => "López-Herrero" ] 1 => array:4 [ "nombre" => "Bosco" "apellidos" => "González-Jáuregui" "email" => array:1 [ 0 => "bgonzalez-j@alumni.unav.es" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "*" "identificador" => "cor0005" ] ] ] 2 => array:2 [ "nombre" => "Magdalena" "apellidos" => "Sotomayor-Toribio" ] 3 => array:2 [ "nombre" => "José Luis" "apellidos" => "Sánchez-Vicente" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Unidad de Gestión Clínica de Oftalmología, Hospital Universitario Virgen del Rocío, Sevilla, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Hallazgos oftalmológicos en paciente mujer con enfermedad de Fabry clásica" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 614 "Ancho" => 750 "Tamanyo" => 72271 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Fig. " "rol" => "short" ] ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">In this paper we describe the case of a 41-year-old woman who was examined for palpitations associated with electrocardiographic signs of left ventricular hypertrophy. Her father had been diagnosed with Fabry disease and passed away from heart failure.</p><p id="par0010" class="elsevierStylePara elsevierViewall">Her symptoms were compatible with Fabry disease due to hypohidrosis and neuropathic pain in her hands. A transthoracic echocardiogram revealed mild, concentric, left ventricular hypertrophy; grade-2 mitral regurgitation; and diastolic dysfunction.</p><p id="par0015" class="elsevierStylePara elsevierViewall">The following values were obtained in the corresponding determinations: α-galactosidase enzymatic activity 0.1 μmol/L/h (reference range: 2.1–14 μmol/L/h) and accumulation of Lyso-Gb3, with levels of 45.27 ng/mL (reference range: 0–1.4 ng/mL).</p><p id="par0020" class="elsevierStylePara elsevierViewall">An ophthalmologic examination showed a linear, subepithelial, corneal, vortex-shaped deposit in the anterior segment (cornea verticillata, <a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>A, white arrows), a conjunctival hemangioma (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>B, black arrow), and an incipient, peripheral, wedge-shaped cataract (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>C, white arrows). A funduscopy showed increased vascular tortuosity, with the second- and third-degree vessels forming a zig-zag pattern (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>D, asterisks).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">Based on these findings, she was diagnosed with classic Fabry disease associated with a <span class="elsevierStyleItalic">GLA p.(Trp95*)</span> mutation, owing to which she started enzyme replacement therapy.</p><p id="par0030" class="elsevierStylePara elsevierViewall">Despite being much less frequent than in males, random inactivation of the X chromosome (lyonization phenomenon) can cause classic Fabry disease phenotypes in females.</p><p id="par0035" class="elsevierStylePara elsevierViewall">Because this entity is probably underdiagnosed, it is important to evaluate possible ophthalmologic signs or to perform familial screening in case of clinical suspicion.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding</span><p id="par0040" class="elsevierStylePara elsevierViewall">The authors declare that they received no financial aid for the conduct of this work.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Conflicts of interest</span><p id="par0045" class="elsevierStylePara elsevierViewall">The authors declare no conflicts of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:2 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Funding" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Conflicts of interest" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: López-Herrero F, González-Jáuregui B, Sotomayor-Toribio M, Sánchez-Vicente JL. Hallazgos oftalmológicos en paciente mujer con enfermedad de Fabry clásica. Med Clin (Barc). 2022;158:248.</p>" ] ] "multimedia" => array:1 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 614 "Ancho" => 750 "Tamanyo" => 72271 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Fig. " "rol" => "short" ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/23870206/0000015800000005/v1_202203050916/S2387020622000663/v1_202203050916/en/main.assets" "Apartado" => array:4 [ "identificador" => "51820" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Images in medicine" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/23870206/0000015800000005/v1_202203050916/S2387020622000663/v1_202203050916/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020622000663?idApp=UINPBA00004N" ]
