Images in Dermatology
Ski-Jump Toenails
Uñas de pies en «salto de esquí»
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Ossorio-García, D. Jiménez-Gallo, R. de la Varga-Martínez" "autores" => array:3 [ 0 => array:4 [ "nombre" => "L." "apellidos" => "Ossorio-García" "email" => array:1 [ 0 => "lidia.ossoriogarcia@gmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "*" "identificador" => "cor1" ] ] ] 1 => array:3 [ "nombre" => "D." "apellidos" => "Jiménez-Gallo" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "R." "apellidos" => "de la Varga-Martínez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Unidad de Gestión Clínica de Dermatología Médico-Quirúrgica y Venereología, Hospital Universitario Puerta del Mar, Cádiz, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Unidad de Gestión Clínica de Hematología e Inmunología, Hospital Universitario Puerta del Mar, Cádiz, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor1" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Uñas de pies en «salto de esquí»" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:6 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 831 "Ancho" => 1305 "Tamanyo" => 174354 ] ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">A 9-month-old breastfeeding baby boy was seen at our department with abnormalities of the toenails and congenital bilateral edema of the feet. The paternal grandmother and a paternal female cousin had also presented congenital lymphedema and abnormalities of the toenails. Examination revealed <span class="elsevierStyleItalic">ski-jump</span> koilonychia in the nails of the first toe of both feet and edema of the toes with slight edema of the back of both feet (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>A and B). The suspected diagnosis was Milroy disease (MD) and this was confirmed by means of a genetic study and presence in the germ line of a heterozygous mutation on p.Gly933Arg (G933R) of the FLT4 gene. This mutation was also detected in the father, a brother, and a paternal female cousin of the patient.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">MD is characterized by congenital lymphedema in the lower limbs caused by mutations in the FLT4 gene, which synthesizes the protein of receptor 3 of the vascular endothelial growth factor (VEGFR3), responsible for the development of the lymphatic system. The spoon or ski-jump nails are characteristic but only appear in between 10% and 14% of patients, in whom it may be a guiding sign. Heredity is autosomal dominant with variable expression and incomplete penetrance, estimated at between 85% and 90%. This explains why the disease was expressed phenotypically by our patient but not by his father or brother.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Ossorio-García L, Jiménez-Gallo D, de la Varga-Martínez R. Uñas de pies en «salto de esquí». Actas Dermosifiliogr. 2020;111:424–425.</p>" ] ] "multimedia" => array:1 [ 0 => array:6 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 831 "Ancho" => 1305 "Tamanyo" => 174354 ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/15782190/0000011100000005/v3_202012020957/S1578219020301542/v3_202012020957/en/main.assets" "Apartado" => array:4 [ "identificador" => "41141" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Images in Dermatology" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/15782190/0000011100000005/v3_202012020957/S1578219020301542/v3_202012020957/en/main.pdf?idApp=UINPBA000044&text.app=https://actasdermo.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1578219020301542?idApp=UINPBA000044" ]
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