IMÁGENES EN DERMATOLOGÍA
Pelo lanoso posnatal: clave diagnóstica en la neuropatía axonal gigante
Postnatal Woolly Hair: A Key to Diagnosis in Giant Axonal Neuropathy
F. Allegue
, D. González-Vilas, A. Zulaica
Corresponding author
Servicio de Dermatología, Hospital do Meixoeiro, EOXI, Vigo, España
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Allegue, D. González-Vilas, A. Zulaica" "autores" => array:3 [ 0 => array:4 [ "nombre" => "F." "apellidos" => "Allegue" "email" => array:1 [ 0 => "fallegue@mundo-r.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "D." "apellidos" => "González-Vilas" ] 2 => array:2 [ "nombre" => "A." "apellidos" => "Zulaica" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Servicio de Dermatología, Hospital do Meixoeiro, EOXI, Vigo, España" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Autor para correspondencia." ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Postnatal Woolly Hair: A Key to Diagnosis in Giant Axonal Neuropathy" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:6 [ "identificador" => "fig0005" "etiqueta" => "Figura 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 605 "Ancho" => 805 "Tamanyo" => 113628 ] ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Una niña de 5 años había nacido con pelo negro liso de aspecto normal, pero al año se le cayó totalmente, naciendo un nuevo cabello más claro, muy ensortijado, de aspecto lanoso (<a class="elsevierStyleCrossRef" href="#fig0005">fig. 1</a>A), con pelos con ondulaciones cortas (<a class="elsevierStyleCrossRef" href="#fig0005">fig. 1</a>B). La menor densidad capilar central, en el momento actual, puede explicarse por una alopecia por tracción. Este pelo lanoso junto con una dificultad para caminar debida a una progresiva pérdida de fuerza y el apoyo de pies en plano valgo, constituyen una tríada clínica que permiten sospechar el diagnóstico de neuropatía axonal gigante, como en nuestra paciente. La neuropatía axonal gigante es un trastorno neurodegenerativo autosómico recesivo poco frecuente. Se debe a una mutación en el gen GAN que codifica la proteína gigaxonina; como consecuencia se acumulan neurofilamentos en los axones del sistema nervioso central y periférico, interfiriendo la transmisión de los impulsos nerviosos. En la neuropatía axonal gigante el pelo es normal al nacer, pero se cae y vuelve a crecer con características diferentes, más fino, más claro, muy rizado, claramente diferente al de sus progenitores, con aspecto de pelo lanoso. No se trata de un pelo lanoso en sentido estricto, que siempre es congénito, con formas difusas, hereditarias y localizadas. Esto se explicaría porque la gigaxonina también esta involucrada en la homeostasis de otros filamentos intermedios como las queratinas.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2018-04-06" "fechaAceptado" => "2018-08-02" "multimedia" => array:1 [ 0 => array:6 [ "identificador" => "fig0005" "etiqueta" => "Figura 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 605 "Ancho" => 805 "Tamanyo" => 113628 ] ] ] ] ] "idiomaDefecto" => "es" "url" => "/00017310/0000011100000006/v1_202008050625/S0001731020301216/v1_202008050625/es/main.assets" "Apartado" => array:4 [ "identificador" => "41021" "tipo" => "SECCION" "es" => array:2 [ "titulo" => "Imágenes en Dermatología" "idiomaDefecto" => true ] "idiomaDefecto" => "es" ] "PDF" => "https://static.elsevier.es/multimedia/00017310/0000011100000006/v1_202008050625/S0001731020301216/v1_202008050625/es/main.pdf?idApp=UINPBA000044&text.app=https://actasdermo.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0001731020301216?idApp=UINPBA000044" ]
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