Imágenes en Dermatología
Síndrome de Noonan con lentiginosis: manifestaciones dermatológicas sutiles y claves
Noonan Syndrome With Multiple Lentigines: Subtle Key Skin Clues to the Diagnosis
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Hospital Universitario de Móstoles, Madrid, España" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Universidad Rey Juan Carlos, Madrid, España" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Servicio de Genética. Hospital Universitario de Móstoles, Madrid, España" "etiqueta" => "c" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Autor para correspondencia." ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Noonan Syndrome With Multiple Lentigines: Subtle Key Skin Clues to the Diagnosis" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figura 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1633 "Ancho" => 2175 "Tamanyo" => 491944 ] ] "descripcion" => array:1 [ "es" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Imagen clínica. Obsérvese lentiginosis, queratosis pilar, cejas poco pobladas, <span class="elsevierStyleItalic">filtrum</span> nasal ancho, nariz bulbosa y pelo ensortijado.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Una mujer de 15 años acudió a consulta por presentar la piel enrojecida y áspera de forma generalizada desde la infancia. Había padecido una estenosis valvular pulmonar congénita, duplicidad pieloureteral incompleta renal derecha y dificultad de aprendizaje. En la exploración física se observaba lentiginosis faciocervical, alrededor de 100 nevus melanocíticos, cuatro manchas tipo nevus spilus, puente nasal deprimido y <span class="elsevierStyleItalic">filtrum</span> ancho (<a class="elsevierStyleCrossRef" href="#fig0005">fig. 1</a>). También destacaban talla baja, cejas poco pobladas, hiperqueratosis folicular en cara, brazos y muslos, pelo ensortijado y un fototipo IV. Los familiares, sin patología de interés, no presentaban ninguno de estos hallazgos. El estudio genético reveló la mutación c.1403 C>T (p.Thr486Met) en heterocigosis en PTPN11, asociada al síndrome Noonan con lentiginosis (anteriormente LEOPARD).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">Bessis et al.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">1</span></a> recogieron prospectivamente las alteraciones dermatológicas de 34 pacientes diagnosticados genéticamente de síndrome de Noonan con lentiginosis. Además de las descritas en nuestra paciente, también pueden verse: manchas <span class="elsevierStyleItalic">café noir</span>, alopecia, alopecia temporal, uleritema ofriógenos, hiperqueratosis palmoplantar, hiperlaxitud cutánea, piel acral redundante, equimosis, hiperhidrosis y linfedema.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Financiación</span><p id="par0015" class="elsevierStylePara elsevierViewall">Este trabajo no ha recibido ningún tipo de financiación.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Conflicto de intereses</span><p id="par0020" class="elsevierStylePara elsevierViewall">Los autores declaran no tener ningún conflicto de intereses.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:3 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Financiación" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Conflicto de intereses" ] 2 => array:1 [ "titulo" => "Bibliografía" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "multimedia" => array:1 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figura 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1633 "Ancho" => 2175 "Tamanyo" => 491944 ] ] "descripcion" => array:1 [ "es" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Imagen clínica. Obsérvese lentiginosis, queratosis pilar, cejas poco pobladas, <span class="elsevierStyleItalic">filtrum</span> nasal ancho, nariz bulbosa y pelo ensortijado.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "Bibliografía" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:1 [ 0 => array:3 [ "identificador" => "bib0010" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "D. Bessis" 1 => "J. Miquel" 2 => "E. Bourrat" 3 => "C. Chiaverini" 4 => "F. Morice-Picard" 5 => "C. Abadie" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1111/bjd.17404" "Revista" => array:5 [ "tituloSerie" => "Br J Dermatol." "fecha" => "2019" "volumen" => "180" "paginaInicial" => "1438" "paginaFinal" => "1448" ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "es" "url" => "/00017310/0000011200000009/v1_202110020514/S0001731021001034/v1_202110020514/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/00017310/0000011200000009/v1_202110020514/S0001731021001034/v1_202110020514/es/main.pdf?idApp=UINPBA000044&text.app=https://actasdermo.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0001731021001034?idApp=UINPBA000044" ]
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