Images in Paediatrics
Multiple ephelides: Just freckles?
Efélides múltiples: ¿solo pecas?
María Cristina Pradillo Martín
, Ángeles Porcel Jurado, Ana Nevado Jiménez, Eduardo Antonio Torres Magno
Corresponding author
Centro de Salud El Cónsul, Distrito Sanitario Málaga, Málaga, Spain
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"tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "81" "paginaFinal" => "82" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "María Cristina Pradillo Martín, Ángeles Porcel Jurado, Ana Nevado Jiménez, Eduardo Antonio Torres Magno" "autores" => array:4 [ 0 => array:4 [ "nombre" => "María Cristina" "apellidos" => "Pradillo Martín" "email" => array:1 [ 0 => "mcristinapradillo@gmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "Ángeles" "apellidos" => "Porcel Jurado" ] 2 => array:2 [ "nombre" => "Ana" "apellidos" => "Nevado Jiménez" ] 3 => array:2 [ "nombre" => "Eduardo Antonio" "apellidos" => "Torres Magno" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Centro de Salud El Cónsul, Distrito Sanitario Málaga, Málaga, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Efélides múltiples: ¿solo pecas?" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1970 "Ancho" => 1600 "Tamanyo" => 403582 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0010" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Lesions caused by expossure to sunlight visualised with UV light (courtesy of Javier del Boz González).</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">We present the case of a boy aged 20 months, of European ancestry, born to consanguineous parents (second cousins). From 1 year post birth, he developed multiple ephelides clustered in areas exposed to sunlight, chiefly in the face (<a class="elsevierStyleCrossRefs" href="#fig0005">Figs. 1 and 2</a>), leading to the clinical diagnosis of xeroderma pigmentosum (XP). The diagnosis was confirmed with the detection of the homozygous pathogenic variant c.1643_1644delTG (p.Val548Alafs*25) in the <span class="elsevierStyleItalic">XPC</span> gene, associated with XP type C. Both parents, who were asymptomatic, carried the variant in a single allele. There was no evidence of ophthalmological or neurologic involvement. The examination of the hair with polarised light microscopy did not reveal abnormalities.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">Xeroderma pigmentosum XP is a rare hereditary skin disease (prevalence, 1–2.3/1 000 000) characterised by extreme cellular sensitivity to ultraviolet radiation associated with changes in genes involved in DNA repair.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> It has an autosomal recessive pattern of inheritance, and there are 8 subtypes: XP type A through G and XP variant.<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2,3</span></a> It manifests with multiple ephelides from age 1–2 years in areas exposed to sunlight, sunburn after short exposures, premature skin ageing, increased risk of skin cancer (squamous cell/basal cell carcinoma, melanoma) and ophthalmological and neurologic abnormalities.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1–3</span></a> The latter are infrequent in XP group C, which is most common in Spain.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> It can be diagnosed based on clinical features and confirmed with molecular methods.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> The goal of management, based on lifelong avoidance of exposure to ultraviolet radiation, is the prevention and early detection of skin cancer from a young age.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,3</span></a></p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "multimedia" => array:2 [ 0 => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 2088 "Ancho" => 1600 "Tamanyo" => 345146 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Face of the patient at age 2 years.</p>" ] ] 1 => array:8 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1970 "Ancho" => 1600 "Tamanyo" => 403582 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0010" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Lesions caused by expossure to sunlight visualised with UV light (courtesy of Javier del Boz González).</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:3 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Xeroderma pigmentoso. Dos casos más en España" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "S. Rivera Peñaranda" 1 => "C. Ortuño Gil" 2 => "M. Vera Lorente" 3 => "R. Iniesta Mompeán" 4 => "I. Cascales Barceló" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "An Pediatr" "fecha" => "2003" "volumen" => "58" "paginaInicial" => "395" "paginaFinal" => "403" ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Xeroderma pigmentosum" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "J.O. 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Emmert" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.21873/anticanres.12335" "Revista" => array:6 [ "tituloSerie" => "Anticancer Res" "fecha" => "2018" "volumen" => "38" "paginaInicial" => "1159" "paginaFinal" => "1164" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/29374753" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/23412879/0000010000000001/v1_202401141514/S2341287923002971/v1_202401141514/en/main.assets" "Apartado" => array:4 [ "identificador" => "77701" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Images in Paediatrics" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/23412879/0000010000000001/v1_202401141514/S2341287923002971/v1_202401141514/en/main.pdf?idApp=UINPBA00005H&text.app=https://analesdepediatria.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2341287923002971?idApp=UINPBA00005H" ]
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