array:24 [
  "pii" => "S0365059620301252"
  "issn" => "03650596"
  "doi" => "10.1016/j.abd.2019.10.006"
  "estado" => "S300"
  "fechaPublicacion" => "2020-07-01"
  "aid" => "197"
  "copyright" => "Sociedade Brasileira de Dermatologia"
  "copyrightAnyo" => "2020"
  "documento" => "article"
  "crossmark" => 1
  "licencia" => "http://creativecommons.org/licenses/by/4.0/"
  "subdocumento" => "sco"
  "abierto" => array:3 [
    "ES" => true
    "ES2" => true
    "LATM" => true
  ]
  "gratuito" => true
  "lecturas" => array:1 [
    "total" => 0
  ]
  "Traduccion" => array:1 [
    "pt" => array:19 [
      "pii" => "S2666275220302083"
      "issn" => "26662752"
      "doi" => "10.1016/j.abdp.2020.05.013"
      "estado" => "S300"
      "fechaPublicacion" => "2020-07-01"
      "aid" => "197"
      "copyright" => "Sociedade Brasileira de Dermatologia"
      "documento" => "article"
      "crossmark" => 1
      "licencia" => "http://creativecommons.org/licenses/by/4.0/"
      "subdocumento" => "sco"
      "abierto" => array:3 [
        "ES" => true
        "ES2" => true
        "LATM" => true
      ]
      "gratuito" => true
      "lecturas" => array:1 [
        "total" => 0
      ]
      "pt" => array:10 [
        "idiomaDefecto" => true
        "cabecera" => "<span class="elsevierStyleTextfn">Carta &#8211; Caso cl&#237;nico</span>"
        "titulo" => "Apresenta&#231;&#227;o rara da s&#237;ndrome de Rothmund&#8208;Thomson com novas muta&#231;&#245;es heterozig&#243;ticas compostas do gene RECQL4"
        "tienePdf" => "pt"
        "tieneTextoCompleto" => "pt"
        "paginas" => array:1 [
          0 => array:2 [
            "paginaInicial" => "538"
            "paginaFinal" => "540"
          ]
        ]
        "contieneTextoCompleto" => array:1 [
          "pt" => true
        ]
        "contienePdf" => array:1 [
          "pt" => true
        ]
        "resumenGrafico" => array:2 [
          "original" => 0
          "multimedia" => array:7 [
            "identificador" => "fig0010"
            "etiqueta" => "Figura 2"
            "tipo" => "MULTIMEDIAFIGURA"
            "mostrarFloat" => true
            "mostrarDisplay" => false
            "figura" => array:1 [
              0 => array:4 [
                "imagen" => "gr2.jpeg"
                "Alto" => 1413
                "Ancho" => 2079
                "Tamanyo" => 267339
              ]
            ]
            "descripcion" => array:1 [
              "pt" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Duas novas variantes heterozig&#243;ticas no gene RECQL4 confirmadas por sequenciamento gen&#233;tico&#46; Uma estava no local do <span class="elsevierStyleItalic">splicing</span>&#44; c&#46;1391&#8208;2A&#62; C&#44; proveniente do pai e tamb&#233;m observada na irm&#227;&#46; A outra era uma muta&#231;&#227;o de exclus&#227;o&#44; c&#46;2492&#95;2493delAT &#40;p&#46;His831Argfs&#41;&#44; proveniente da m&#227;e&#46;</p>"
            ]
          ]
        ]
        "autores" => array:1 [
          0 => array:2 [
            "autoresLista" => "Xinyue Zhang, Songmei Geng, Yi Zheng"
            "autores" => array:3 [
              0 => array:2 [
                "nombre" => "Xinyue"
                "apellidos" => "Zhang"
              ]
              1 => array:2 [
                "nombre" => "Songmei"
                "apellidos" => "Geng"
              ]
              2 => array:2 [
                "nombre" => "Yi"
                "apellidos" => "Zheng"
              ]
            ]
          ]
        ]
      ]
      "idiomaDefecto" => "pt"
      "Traduccion" => array:1 [
        "en" => array:9 [
          "pii" => "S0365059620301252"
          "doi" => "10.1016/j.abd.2019.10.006"
          "estado" => "S300"
          "subdocumento" => ""
          "abierto" => array:3 [
            "ES" => true
            "ES2" => true
            "LATM" => true
          ]
          "gratuito" => true
          "lecturas" => array:1 [
            "total" => 0
          ]
          "idiomaDefecto" => "en"
          "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0365059620301252?idApp=UINPBA00008Z"
        ]
      ]
      "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2666275220302083?idApp=UINPBA00008Z"
      "url" => "/26662752/0000009500000004/v2_202008070652/S2666275220302083/v2_202008070652/pt/main.assets"
    ]
  ]
  "itemSiguiente" => array:19 [
    "pii" => "S0365059620301276"
    "issn" => "03650596"
    "doi" => "10.1016/j.abd.2019.11.010"
    "estado" => "S300"
    "fechaPublicacion" => "2020-07-01"
    "aid" => "199"
    "copyright" => "Sociedade Brasileira de Dermatologia"
    "documento" => "article"
    "crossmark" => 1
    "licencia" => "http://creativecommons.org/licenses/by/4.0/"
    "subdocumento" => "sco"
    "abierto" => array:3 [
      "ES" => true
      "ES2" => true
      "LATM" => true
    ]
    "gratuito" => true
    "lecturas" => array:1 [
      "total" => 0
    ]
    "en" => array:10 [
      "idiomaDefecto" => true
      "cabecera" => "<span class="elsevierStyleTextfn">Case Letter</span>"
      "titulo" => "Acute generalized exanthematous pustulosis with features mimicking toxic epidermal necrolysis secondary to amiodarone"
      "tienePdf" => "en"
      "tieneTextoCompleto" => "en"
      "paginas" => array:1 [
        0 => array:2 [
          "paginaInicial" => "540"
          "paginaFinal" => "542"
        ]
      ]
      "contieneTextoCompleto" => array:1 [
        "en" => true
      ]
      "contienePdf" => array:1 [
        "en" => true
      ]
      "resumenGrafico" => array:2 [
        "original" => 0
        "multimedia" => array:7 [
          "identificador" => "fig0015"
          "etiqueta" => "Figure 3"
          "tipo" => "MULTIMEDIAFIGURA"
          "mostrarFloat" => true
          "mostrarDisplay" => false
          "figura" => array:1 [
            0 => array:4 [
              "imagen" => "gr3.jpeg"
              "Alto" => 941
              "Ancho" => 755
              "Tamanyo" => 126336
            ]
          ]
          "descripcion" => array:1 [
            "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Bullous lesions that led to small erosions on flanks&#46;</p>"
          ]
        ]
      ]
      "autores" => array:1 [
        0 => array:2 [
          "autoresLista" => "Cheryl Distel, Mar&#237;a Luz Bollea Garlatti, Ana Clara Torre, Julia Riganti"
          "autores" => array:4 [
            0 => array:2 [
              "nombre" => "Cheryl"
              "apellidos" => "Distel"
            ]
            1 => array:2 [
              "nombre" => "Mar&#237;a Luz"
              "apellidos" => "Bollea Garlatti"
            ]
            2 => array:2 [
              "nombre" => "Ana Clara"
              "apellidos" => "Torre"
            ]
            3 => array:2 [
              "nombre" => "Julia"
              "apellidos" => "Riganti"
            ]
          ]
        ]
      ]
    ]
    "idiomaDefecto" => "en"
    "Traduccion" => array:1 [
      "pt" => array:9 [
        "pii" => "S2666275220302010"
        "doi" => "10.1016/j.abdp.2020.05.011"
        "estado" => "S300"
        "subdocumento" => ""
        "abierto" => array:3 [
          "ES" => true
          "ES2" => true
          "LATM" => true
        ]
        "gratuito" => true
        "lecturas" => array:1 [
          "total" => 0
        ]
        "idiomaDefecto" => "pt"
        "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2666275220302010?idApp=UINPBA00008Z"
      ]
    ]
    "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0365059620301276?idApp=UINPBA00008Z"
    "url" => "/03650596/0000009500000004/v3_202008041755/S0365059620301276/v3_202008041755/en/main.assets"
  ]
  "itemAnterior" => array:19 [
    "pii" => "S0365059620301343"
    "issn" => "03650596"
    "doi" => "10.1016/j.abd.2019.08.033"
    "estado" => "S300"
    "fechaPublicacion" => "2020-07-01"
    "aid" => "206"
    "copyright" => "Sociedade Brasileira de Dermatologia"
    "documento" => "article"
    "crossmark" => 1
    "licencia" => "http://creativecommons.org/licenses/by/4.0/"
    "subdocumento" => "sco"
    "abierto" => array:3 [
      "ES" => true
      "ES2" => true
      "LATM" => true
    ]
    "gratuito" => true
    "lecturas" => array:1 [
      "total" => 0
    ]
    "en" => array:10 [
      "idiomaDefecto" => true
      "cabecera" => "<span class="elsevierStyleTextfn">Case Letter</span>"
      "titulo" => "Sporadic form of epidermolysis bullosa simplex with mottled pigmentation"
      "tienePdf" => "en"
      "tieneTextoCompleto" => "en"
      "paginas" => array:1 [
        0 => array:2 [
          "paginaInicial" => "536"
          "paginaFinal" => "538"
        ]
      ]
      "contieneTextoCompleto" => array:1 [
        "en" => true
      ]
      "contienePdf" => array:1 [
        "en" => true
      ]
      "resumenGrafico" => array:2 [
        "original" => 0
        "multimedia" => array:7 [
          "identificador" => "fig0010"
          "etiqueta" => "Figure 2"
          "tipo" => "MULTIMEDIAFIGURA"
          "mostrarFloat" => true
          "mostrarDisplay" => false
          "figura" => array:1 [
            0 => array:4 [
              "imagen" => "gr2.jpeg"
              "Alto" => 642
              "Ancho" => 1007
              "Tamanyo" => 52235
            ]
          ]
          "descripcion" => array:1 [
            "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Close-up&#46; Desiccated blisters and vesicles on the left foot&#46;</p>"
          ]
        ]
      ]
      "autores" => array:1 [
        0 => array:2 [
          "autoresLista" => "Fl&#225;via Regina Ferreira, Carolina Fernandes Pereira, Juliana Carvalho Moretto, Mariana Patriota Naville"
          "autores" => array:4 [
            0 => array:2 [
              "nombre" => "Fl&#225;via Regina"
              "apellidos" => "Ferreira"
            ]
            1 => array:2 [
              "nombre" => "Carolina Fernandes"
              "apellidos" => "Pereira"
            ]
            2 => array:2 [
              "nombre" => "Juliana Carvalho"
              "apellidos" => "Moretto"
            ]
            3 => array:2 [
              "nombre" => "Mariana Patriota"
              "apellidos" => "Naville"
            ]
          ]
        ]
      ]
    ]
    "idiomaDefecto" => "en"
    "Traduccion" => array:1 [
      "pt" => array:9 [
        "pii" => "S2666275220302071"
        "doi" => "10.1016/j.abdp.2020.05.012"
        "estado" => "S300"
        "subdocumento" => ""
        "abierto" => array:3 [
          "ES" => true
          "ES2" => true
          "LATM" => true
        ]
        "gratuito" => true
        "lecturas" => array:1 [
          "total" => 0
        ]
        "idiomaDefecto" => "pt"
        "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2666275220302071?idApp=UINPBA00008Z"
      ]
    ]
    "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0365059620301343?idApp=UINPBA00008Z"
    "url" => "/03650596/0000009500000004/v3_202008041755/S0365059620301343/v3_202008041755/en/main.assets"
  ]
  "en" => array:17 [
    "idiomaDefecto" => true
    "cabecera" => "<span class="elsevierStyleTextfn">Case Letter</span>"
    "titulo" => "Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene"
    "tieneTextoCompleto" => true
    "saludo" => "Dear Editor&#44;"
    "paginas" => array:1 [
      0 => array:2 [
        "paginaInicial" => "538"
        "paginaFinal" => "540"
      ]
    ]
    "autores" => array:1 [
      0 => array:4 [
        "autoresLista" => "Xinyue Zhang, Songmei Geng, Yi Zheng"
        "autores" => array:3 [
          0 => array:2 [
            "nombre" => "Xinyue"
            "apellidos" => "Zhang"
          ]
          1 => array:4 [
            "nombre" => "Songmei"
            "apellidos" => "Geng"
            "email" => array:1 [
              0 => "gsm312@yahoo.com"
            ]
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "&#42;"
                "identificador" => "cor0005"
              ]
            ]
          ]
          2 => array:2 [
            "nombre" => "Yi"
            "apellidos" => "Zheng"
          ]
        ]
        "afiliaciones" => array:1 [
          0 => array:2 [
            "entidad" => "Department of Dermatology&#44; Second Affiliated Hospital&#44; Xi&#8217;An Jiaotong University&#44; Shaanxi&#44; China"
            "identificador" => "aff0005"
          ]
        ]
        "correspondencia" => array:1 [
          0 => array:3 [
            "identificador" => "cor0005"
            "etiqueta" => "&#8270;"
            "correspondencia" => "Corresponding author&#46;"
          ]
        ]
      ]
    ]
    "resumenGrafico" => array:2 [
      "original" => 0
      "multimedia" => array:7 [
        "identificador" => "fig0010"
        "etiqueta" => "Figure 2"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
          0 => array:4 [
            "imagen" => "gr2.jpeg"
            "Alto" => 1413
            "Ancho" => 2079
            "Tamanyo" => 268529
          ]
        ]
        "descripcion" => array:1 [
          "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Two novel heterozygous variants in the RECQL4 gene confirmed by gene sequencing&#46; One was in the splice site&#44; c&#46;1391-2A&#62;C from her father&#44; and also was seen in her sister&#46; The other was a deletion mutation&#44; c&#46;2492&#95;2493delAT &#40;p&#46;His831Argfs&#41; from her mother&#46;</p>"
        ]
      ]
    ]
    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Rothmund-Thomson syndrome &#40;RTS&#41; is a rare autosomal recessive disorder that is characterized by facial rash &#40;poikiloderma&#44; a diagnostic hallmark&#41;&#44; growth retardation&#44; sparse scalp hair&#47;eyelashes&#47;eyebrows&#44; juvenile cataracts&#44; skeletal abnormalities&#44; radial ray defects&#44; and a predisposition to cancer&#46; There are two clinical forms&#58; type I&#44; which is characterized by poikiloderma&#44; ectodermal dysplasia&#44; and juvenile cataracts with unknown etiology&#44; and type II which is characterized by poikiloderma&#44; congenital bone defects&#44; an increased frequency of malignancy &#40;especially osteosarcoma&#41;&#44; and RECQL4 &#40;8q24&#46;3&#41; mutation&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">1</span></a> To date&#44; around 400 cases have been reported&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall">Here&#44; the authors report a case of poikiloderma and growth retardation in a Chinese girl presenting two RECQL4 mutations in a novel&#44; compound heterozygous arrangement &#40;c&#46;2492&#95;2493del and c&#46;1391-2A&#62;C&#41; recorded <span class="elsevierStyleItalic">via</span> mutational screening&#44; which is the first reported in RTS&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">The proband is a 2-year-old girl with poikiloderma bilaterally on her face and ears&#46; Her parents complained that their younger daughter showed erythema&#44; swelling&#44; and blistering bilaterally on her face since the age of 6 months&#44; which gradually developed to reticulated hypo- and hyperpigmentation&#46; The girl also presented with thinning of eyebrows&#44; photosensitivity&#44; and gastrointestinal problems including chronic emesis or diarrhea&#46; Neither her parents nor her 5-year-old sister has similar symptoms&#46; The patient was born at full term with a mild toe abnormality&#46; However&#44; slow weight gain&#44; short stature&#44; and teeth retardation were noted on a physical examination&#46; The dermatological examination found bilateral depigmentation&#44; hyperpigmentation&#44; punctate atrophy&#44; and telangiectasia over the patient&#39;s face and ears &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46; Bone mineral density measurement was performed at 1 year of age&#44; which showed low bone mineral density&#46; Her cognitive ability&#44; ophthalmic testing&#44; and other examination results were within normal limits and no other alterations were found&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">For differential molecular diagnosis of poikiloderma&#44; targeted exome sequencing was performed&#46; Mutational screening for BLM&#44; the defective gene in Bloom&#39;s syndrome and other poikiloderma-related diseases&#44; was negative&#46; Gene sequencing revealed two distinct heterozygous mutations on the RECQL4 gene &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46; One of them is a point mutation located in exon 9&#44; consisting of a change of adenine for cytosine &#40;c&#46;1391-2A&#62;C&#41;&#44; which was found in her unaffected father and sister&#46; This mutation has not been reported&#44; but the possible effect on the protein through a splice acceptor variant can be assumed&#46; On the other allele&#44; the mutation is a deletion of two nucleotides found in exon 16 &#40;c&#46;2492&#95;2493delAT&#41;&#44; which produces a frame shift &#40;p&#46;His831Argfs&#41;&#59; this mutation is known to be rare and last evaluated by Kitao et al&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">2</span></a> This mutation was found in her unaffected mother&#46; These two mutations of the proband respectively come from her father and mother&#44; known as compound heterozygous mutations&#44; and accord with the autosomal recessive inheritance law&#46; Her sister only presents c&#46;1391-2A&#62;C&#44; which is a heterozygous mutation and&#44; theoretically&#44; she won&#8217;t show any symptoms&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">The patient reported here has the clinical signs like poikiloderma&#44; sparse eyebrows&#44; small stature&#44; dental abnormality&#44; and mild skeletal abnormality&#44; which are mentioned in the previous articles&#46;<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">3&#44;4</span></a> No cataracts and cancer have been found so far&#46; Unlike other previous cases&#44; the lesion doesn&#8217;t affect her extremities&#44; and the authors consider that she is too young to show all the symptoms&#46; RTS was diagnosed according to typical lesion and mutation of RECQL4 gene&#44; and the patient was advised to avoid sun exposure and undergo annual checkups for the eyes&#44; skin&#44; and bones&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">The novels compound heterozygous RECQL4 mutations presented in this patient is the first reported in RTS&#46; Loss of RECQL4 protein function occurs in approximately two-thirds of RTS patients and is associated with risk of osteosarcoma&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">5</span></a> Further functional studies to confirm the protein-damaging effect are needed to proceed&#46; Poikiloderma is a symptom of many systemic diseases&#44; such as lupus erythematosus&#44; Bloom syndrome&#44; Kindler syndrome&#44; and dyskeratosis congenita&#46; The result of genetic testing is instructive and meaningful to a definitive diagnosis and future procreation guidance for the patient&#39;s family&#46;</p><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Financial support</span><p id="par0050" class="elsevierStylePara elsevierViewall">None declared&#46;</p></span><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Authors&#8217; contributions</span><p id="par0035" class="elsevierStylePara elsevierViewall">Xinyue Zhang&#58; Drafting and editing of the manuscript&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">Songmei Geng&#58; Approval of final version of the manuscript&#59; intellectual participation in the propaedeutic and&#47;or therapeutic conduct of the studied cases&#46;</p><p id="par0045" class="elsevierStylePara elsevierViewall">Yi Zheng&#58; Critical review of the literature&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Conflicts of interest</span><p id="par0055" class="elsevierStylePara elsevierViewall">None declared&#46;</p></span></span>"
    "textoCompletoSecciones" => array:1 [
      "secciones" => array:4 [
        0 => array:2 [
          "identificador" => "sec0010"
          "titulo" => "Financial support"
        ]
        1 => array:2 [
          "identificador" => "sec0005"
          "titulo" => "Authors&#8217; contributions"
        ]
        2 => array:2 [
          "identificador" => "sec0015"
          "titulo" => "Conflicts of interest"
        ]
        3 => array:1 [
          "titulo" => "References"
        ]
      ]
    ]
    "pdfFichero" => "main.pdf"
    "tienePdf" => true
    "fechaRecibido" => "2019-01-12"
    "fechaAceptado" => "2019-10-04"
    "NotaPie" => array:2 [
      0 => array:2 [
        "etiqueta" => "&#9734;"
        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">How to cite this article&#58; Zhang X&#44; Geng S&#44; Zheng Y&#46; Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene&#46; An Bras Dermatol&#46; 2020&#59;95&#58;538&#8211;40&#46;</p>"
      ]
      1 => array:2 [
        "etiqueta" => "&#9734;&#9734;"
        "nota" => "<p class="elsevierStyleNotepara" id="npar0010">Study conducted at the Department of Dermatology&#44; Second Affiliated Hospital&#44; Xi&#8217;An Jiaotong University&#44; Shaanxi&#44; China&#46;</p>"
      ]
    ]
    "multimedia" => array:2 [
      0 => array:7 [
        "identificador" => "fig0005"
        "etiqueta" => "Figure 1"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
          0 => array:4 [
            "imagen" => "gr1.jpeg"
            "Alto" => 1064
            "Ancho" => 1674
            "Tamanyo" => 304293
          ]
        ]
        "descripcion" => array:1 [
          "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Poikiloderma in a patient with RTS&#46; Depigmentation&#44; hyperpigmentation&#44; punctate atrophy&#44; telangiectasia&#44; and loss of eyebrows are seen bilaterally on the face&#46;</p>"
        ]
      ]
      1 => array:7 [
        "identificador" => "fig0010"
        "etiqueta" => "Figure 2"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
          0 => array:4 [
            "imagen" => "gr2.jpeg"
            "Alto" => 1413
            "Ancho" => 2079
            "Tamanyo" => 268529
          ]
        ]
        "descripcion" => array:1 [
          "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Two novel heterozygous variants in the RECQL4 gene confirmed by gene sequencing&#46; One was in the splice site&#44; c&#46;1391-2A&#62;C from her father&#44; and also was seen in her sister&#46; The other was a deletion mutation&#44; c&#46;2492&#95;2493delAT &#40;p&#46;His831Argfs&#41; from her mother&#46;</p>"
        ]
      ]
    ]
    "bibliografia" => array:2 [
      "titulo" => "References"
      "seccion" => array:1 [
        0 => array:2 [
          "identificador" => "bibs0015"
          "bibliografiaReferencia" => array:5 [
            0 => array:3 [
              "identificador" => "bib0030"
              "etiqueta" => "1"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Rothmund-Thomson syndrome"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [
                            0 => "L&#46; Larizza"
                            1 => "G&#46; Roversi"
                            2 => "L&#46; Volpi"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1186/1750-1172-5-2"
                      "Revista" => array:5 [
                        "tituloSerie" => "Orphanet J Rare Dis"
                        "fecha" => "2010"
                        "volumen" => "5"
                        "paginaInicial" => "2"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/20113479"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            1 => array:3 [
              "identificador" => "bib0035"
              "etiqueta" => "2"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "M&#46;C&#46; van Rij"
                            1 => "M&#46;L&#46; Grijsen"
                            2 => "N&#46;M&#46; Appelman-Dijkstra"
                            3 => "K&#46;B&#46; Hansson"
                            4 => "C&#46;A&#46; Ruivenkamp"
                            5 => "K&#46; Mulder"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1007/s00431-016-2834-3"
                      "Revista" => array:6 [
                        "tituloSerie" => "Eur J Pediatr"
                        "fecha" => "2017"
                        "volumen" => "176"
                        "paginaInicial" => "279"
                        "paginaFinal" => "283"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/28039508"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            2 => array:3 [
              "identificador" => "bib0040"
              "etiqueta" => "3"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Clinical utility gene card for&#58; Rothmund-Thomson syndrome"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [
                            0 => "L&#46; Larizza"
                            1 => "G&#46; Roversi"
                            2 => "A&#46; Verloes"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:4 [
                        "tituloSerie" => "Eur J Hum Genet"
                        "fecha" => "2013"
                        "volumen" => "21"
                        "paginaInicial" => "7"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            3 => array:3 [
              "identificador" => "bib0045"
              "etiqueta" => "4"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:5 [
                            0 => "J&#46;Y&#46; Yang"
                            1 => "Y&#46;B&#46; Sohn"
                            2 => "J&#46;S&#46; Lee"
                            3 => "J&#46;H&#46; Jang"
                            4 => "E&#46;S&#46; Lee"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.jdcr.2017.01.023"
                      "Revista" => array:6 [
                        "tituloSerie" => "JAAD Case Rep"
                        "fecha" => "2017"
                        "volumen" => "3"
                        "paginaInicial" => "172"
                        "paginaFinal" => "174"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/28443301"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            4 => array:3 [
              "identificador" => "bib0050"
              "etiqueta" => "5"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "The mutation spectrum in RECQL4 diseases"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "H&#46;A&#46; Siitonen"
                            1 => "J&#46; Sotkasiira"
                            2 => "M&#46; Biervliet"
                            3 => "A&#46; Benmansour"
                            4 => "Y&#46; Capri"
                            5 => "V&#46; Cormier-Daire"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1038/ejhg.2008.154"
                      "Revista" => array:6 [
                        "tituloSerie" => "Eur J Hum Genet"
                        "fecha" => "2009"
                        "volumen" => "17"
                        "paginaInicial" => "151"
                        "paginaFinal" => "158"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/18716613"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
          ]
        ]
      ]
    ]
  ]
  "idiomaDefecto" => "en"
  "url" => "/03650596/0000009500000004/v3_202008041755/S0365059620301252/v3_202008041755/en/main.assets"
  "Apartado" => array:4 [
    "identificador" => "82769"
    "tipo" => "SECCION"
    "en" => array:2 [
      "titulo" => "Case Letter"
      "idiomaDefecto" => true
    ]
    "idiomaDefecto" => "en"
  ]
  "PDF" => "https://static.elsevier.es/multimedia/03650596/0000009500000004/v3_202008041755/S0365059620301252/v3_202008041755/en/main.pdf?idApp=UINPBA00008Z&text.app=https://clinics.elsevier.es/"
  "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0365059620301252?idApp=UINPBA00008Z"
]
Compartilhar
Informação da revista

Estatísticas

Siga este link para acessar o texto completo do artigo

Case Letter
Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene
Xinyue Zhang, Songmei Geng
Autor para correspondência
gsm312@yahoo.com

Corresponding author.
, Yi Zheng
Department of Dermatology, Second Affiliated Hospital, Xi’An Jiaotong University, Shaanxi, China
Lido
6345
Vezes
que se leu este artigo
2977
Total PDF
3368
Total HTML
Compartilhar estatísticas
 array:24 [
  "pii" => "S0365059620301252"
  "issn" => "03650596"
  "doi" => "10.1016/j.abd.2019.10.006"
  "estado" => "S300"
  "fechaPublicacion" => "2020-07-01"
  "aid" => "197"
  "copyright" => "Sociedade Brasileira de Dermatologia"
  "copyrightAnyo" => "2020"
  "documento" => "article"
  "crossmark" => 1
  "licencia" => "http://creativecommons.org/licenses/by/4.0/"
  "subdocumento" => "sco"
  "abierto" => array:3 [
    "ES" => true
    "ES2" => true
    "LATM" => true
  ]
  "gratuito" => true
  "lecturas" => array:1 [
    "total" => 0
  ]
  "Traduccion" => array:1 [
    "pt" => array:19 [
      "pii" => "S2666275220302083"
      "issn" => "26662752"
      "doi" => "10.1016/j.abdp.2020.05.013"
      "estado" => "S300"
      "fechaPublicacion" => "2020-07-01"
      "aid" => "197"
      "copyright" => "Sociedade Brasileira de Dermatologia"
      "documento" => "article"
      "crossmark" => 1
      "licencia" => "http://creativecommons.org/licenses/by/4.0/"
      "subdocumento" => "sco"
      "abierto" => array:3 [
        "ES" => true
        "ES2" => true
        "LATM" => true
      ]
      "gratuito" => true
      "lecturas" => array:1 [
        "total" => 0
      ]
      "pt" => array:10 [
        "idiomaDefecto" => true
        "cabecera" => "<span class="elsevierStyleTextfn">Carta &#8211; Caso cl&#237;nico</span>"
        "titulo" => "Apresenta&#231;&#227;o rara da s&#237;ndrome de Rothmund&#8208;Thomson com novas muta&#231;&#245;es heterozig&#243;ticas compostas do gene RECQL4"
        "tienePdf" => "pt"
        "tieneTextoCompleto" => "pt"
        "paginas" => array:1 [
          0 => array:2 [
            "paginaInicial" => "538"
            "paginaFinal" => "540"
          ]
        ]
        "contieneTextoCompleto" => array:1 [
          "pt" => true
        ]
        "contienePdf" => array:1 [
          "pt" => true
        ]
        "resumenGrafico" => array:2 [
          "original" => 0
          "multimedia" => array:7 [
            "identificador" => "fig0010"
            "etiqueta" => "Figura 2"
            "tipo" => "MULTIMEDIAFIGURA"
            "mostrarFloat" => true
            "mostrarDisplay" => false
            "figura" => array:1 [
              0 => array:4 [
                "imagen" => "gr2.jpeg"
                "Alto" => 1413
                "Ancho" => 2079
                "Tamanyo" => 267339
              ]
            ]
            "descripcion" => array:1 [
              "pt" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Duas novas variantes heterozig&#243;ticas no gene RECQL4 confirmadas por sequenciamento gen&#233;tico&#46; Uma estava no local do <span class="elsevierStyleItalic">splicing</span>&#44; c&#46;1391&#8208;2A&#62; C&#44; proveniente do pai e tamb&#233;m observada na irm&#227;&#46; A outra era uma muta&#231;&#227;o de exclus&#227;o&#44; c&#46;2492&#95;2493delAT &#40;p&#46;His831Argfs&#41;&#44; proveniente da m&#227;e&#46;</p>"
            ]
          ]
        ]
        "autores" => array:1 [
          0 => array:2 [
            "autoresLista" => "Xinyue Zhang, Songmei Geng, Yi Zheng"
            "autores" => array:3 [
              0 => array:2 [
                "nombre" => "Xinyue"
                "apellidos" => "Zhang"
              ]
              1 => array:2 [
                "nombre" => "Songmei"
                "apellidos" => "Geng"
              ]
              2 => array:2 [
                "nombre" => "Yi"
                "apellidos" => "Zheng"
              ]
            ]
          ]
        ]
      ]
      "idiomaDefecto" => "pt"
      "Traduccion" => array:1 [
        "en" => array:9 [
          "pii" => "S0365059620301252"
          "doi" => "10.1016/j.abd.2019.10.006"
          "estado" => "S300"
          "subdocumento" => ""
          "abierto" => array:3 [
            "ES" => true
            "ES2" => true
            "LATM" => true
          ]
          "gratuito" => true
          "lecturas" => array:1 [
            "total" => 0
          ]
          "idiomaDefecto" => "en"
          "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0365059620301252?idApp=UINPBA00008Z"
        ]
      ]
      "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2666275220302083?idApp=UINPBA00008Z"
      "url" => "/26662752/0000009500000004/v2_202008070652/S2666275220302083/v2_202008070652/pt/main.assets"
    ]
  ]
  "itemSiguiente" => array:19 [
    "pii" => "S0365059620301276"
    "issn" => "03650596"
    "doi" => "10.1016/j.abd.2019.11.010"
    "estado" => "S300"
    "fechaPublicacion" => "2020-07-01"
    "aid" => "199"
    "copyright" => "Sociedade Brasileira de Dermatologia"
    "documento" => "article"
    "crossmark" => 1
    "licencia" => "http://creativecommons.org/licenses/by/4.0/"
    "subdocumento" => "sco"
    "abierto" => array:3 [
      "ES" => true
      "ES2" => true
      "LATM" => true
    ]
    "gratuito" => true
    "lecturas" => array:1 [
      "total" => 0
    ]
    "en" => array:10 [
      "idiomaDefecto" => true
      "cabecera" => "<span class="elsevierStyleTextfn">Case Letter</span>"
      "titulo" => "Acute generalized exanthematous pustulosis with features mimicking toxic epidermal necrolysis secondary to amiodarone"
      "tienePdf" => "en"
      "tieneTextoCompleto" => "en"
      "paginas" => array:1 [
        0 => array:2 [
          "paginaInicial" => "540"
          "paginaFinal" => "542"
        ]
      ]
      "contieneTextoCompleto" => array:1 [
        "en" => true
      ]
      "contienePdf" => array:1 [
        "en" => true
      ]
      "resumenGrafico" => array:2 [
        "original" => 0
        "multimedia" => array:7 [
          "identificador" => "fig0015"
          "etiqueta" => "Figure 3"
          "tipo" => "MULTIMEDIAFIGURA"
          "mostrarFloat" => true
          "mostrarDisplay" => false
          "figura" => array:1 [
            0 => array:4 [
              "imagen" => "gr3.jpeg"
              "Alto" => 941
              "Ancho" => 755
              "Tamanyo" => 126336
            ]
          ]
          "descripcion" => array:1 [
            "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Bullous lesions that led to small erosions on flanks&#46;</p>"
          ]
        ]
      ]
      "autores" => array:1 [
        0 => array:2 [
          "autoresLista" => "Cheryl Distel, Mar&#237;a Luz Bollea Garlatti, Ana Clara Torre, Julia Riganti"
          "autores" => array:4 [
            0 => array:2 [
              "nombre" => "Cheryl"
              "apellidos" => "Distel"
            ]
            1 => array:2 [
              "nombre" => "Mar&#237;a Luz"
              "apellidos" => "Bollea Garlatti"
            ]
            2 => array:2 [
              "nombre" => "Ana Clara"
              "apellidos" => "Torre"
            ]
            3 => array:2 [
              "nombre" => "Julia"
              "apellidos" => "Riganti"
            ]
          ]
        ]
      ]
    ]
    "idiomaDefecto" => "en"
    "Traduccion" => array:1 [
      "pt" => array:9 [
        "pii" => "S2666275220302010"
        "doi" => "10.1016/j.abdp.2020.05.011"
        "estado" => "S300"
        "subdocumento" => ""
        "abierto" => array:3 [
          "ES" => true
          "ES2" => true
          "LATM" => true
        ]
        "gratuito" => true
        "lecturas" => array:1 [
          "total" => 0
        ]
        "idiomaDefecto" => "pt"
        "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2666275220302010?idApp=UINPBA00008Z"
      ]
    ]
    "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0365059620301276?idApp=UINPBA00008Z"
    "url" => "/03650596/0000009500000004/v3_202008041755/S0365059620301276/v3_202008041755/en/main.assets"
  ]
  "itemAnterior" => array:19 [
    "pii" => "S0365059620301343"
    "issn" => "03650596"
    "doi" => "10.1016/j.abd.2019.08.033"
    "estado" => "S300"
    "fechaPublicacion" => "2020-07-01"
    "aid" => "206"
    "copyright" => "Sociedade Brasileira de Dermatologia"
    "documento" => "article"
    "crossmark" => 1
    "licencia" => "http://creativecommons.org/licenses/by/4.0/"
    "subdocumento" => "sco"
    "abierto" => array:3 [
      "ES" => true
      "ES2" => true
      "LATM" => true
    ]
    "gratuito" => true
    "lecturas" => array:1 [
      "total" => 0
    ]
    "en" => array:10 [
      "idiomaDefecto" => true
      "cabecera" => "<span class="elsevierStyleTextfn">Case Letter</span>"
      "titulo" => "Sporadic form of epidermolysis bullosa simplex with mottled pigmentation"
      "tienePdf" => "en"
      "tieneTextoCompleto" => "en"
      "paginas" => array:1 [
        0 => array:2 [
          "paginaInicial" => "536"
          "paginaFinal" => "538"
        ]
      ]
      "contieneTextoCompleto" => array:1 [
        "en" => true
      ]
      "contienePdf" => array:1 [
        "en" => true
      ]
      "resumenGrafico" => array:2 [
        "original" => 0
        "multimedia" => array:7 [
          "identificador" => "fig0010"
          "etiqueta" => "Figure 2"
          "tipo" => "MULTIMEDIAFIGURA"
          "mostrarFloat" => true
          "mostrarDisplay" => false
          "figura" => array:1 [
            0 => array:4 [
              "imagen" => "gr2.jpeg"
              "Alto" => 642
              "Ancho" => 1007
              "Tamanyo" => 52235
            ]
          ]
          "descripcion" => array:1 [
            "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Close-up&#46; Desiccated blisters and vesicles on the left foot&#46;</p>"
          ]
        ]
      ]
      "autores" => array:1 [
        0 => array:2 [
          "autoresLista" => "Fl&#225;via Regina Ferreira, Carolina Fernandes Pereira, Juliana Carvalho Moretto, Mariana Patriota Naville"
          "autores" => array:4 [
            0 => array:2 [
              "nombre" => "Fl&#225;via Regina"
              "apellidos" => "Ferreira"
            ]
            1 => array:2 [
              "nombre" => "Carolina Fernandes"
              "apellidos" => "Pereira"
            ]
            2 => array:2 [
              "nombre" => "Juliana Carvalho"
              "apellidos" => "Moretto"
            ]
            3 => array:2 [
              "nombre" => "Mariana Patriota"
              "apellidos" => "Naville"
            ]
          ]
        ]
      ]
    ]
    "idiomaDefecto" => "en"
    "Traduccion" => array:1 [
      "pt" => array:9 [
        "pii" => "S2666275220302071"
        "doi" => "10.1016/j.abdp.2020.05.012"
        "estado" => "S300"
        "subdocumento" => ""
        "abierto" => array:3 [
          "ES" => true
          "ES2" => true
          "LATM" => true
        ]
        "gratuito" => true
        "lecturas" => array:1 [
          "total" => 0
        ]
        "idiomaDefecto" => "pt"
        "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2666275220302071?idApp=UINPBA00008Z"
      ]
    ]
    "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0365059620301343?idApp=UINPBA00008Z"
    "url" => "/03650596/0000009500000004/v3_202008041755/S0365059620301343/v3_202008041755/en/main.assets"
  ]
  "en" => array:17 [
    "idiomaDefecto" => true
    "cabecera" => "<span class="elsevierStyleTextfn">Case Letter</span>"
    "titulo" => "Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene"
    "tieneTextoCompleto" => true
    "saludo" => "Dear Editor&#44;"
    "paginas" => array:1 [
      0 => array:2 [
        "paginaInicial" => "538"
        "paginaFinal" => "540"
      ]
    ]
    "autores" => array:1 [
      0 => array:4 [
        "autoresLista" => "Xinyue Zhang, Songmei Geng, Yi Zheng"
        "autores" => array:3 [
          0 => array:2 [
            "nombre" => "Xinyue"
            "apellidos" => "Zhang"
          ]
          1 => array:4 [
            "nombre" => "Songmei"
            "apellidos" => "Geng"
            "email" => array:1 [
              0 => "gsm312@yahoo.com"
            ]
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "&#42;"
                "identificador" => "cor0005"
              ]
            ]
          ]
          2 => array:2 [
            "nombre" => "Yi"
            "apellidos" => "Zheng"
          ]
        ]
        "afiliaciones" => array:1 [
          0 => array:2 [
            "entidad" => "Department of Dermatology&#44; Second Affiliated Hospital&#44; Xi&#8217;An Jiaotong University&#44; Shaanxi&#44; China"
            "identificador" => "aff0005"
          ]
        ]
        "correspondencia" => array:1 [
          0 => array:3 [
            "identificador" => "cor0005"
            "etiqueta" => "&#8270;"
            "correspondencia" => "Corresponding author&#46;"
          ]
        ]
      ]
    ]
    "resumenGrafico" => array:2 [
      "original" => 0
      "multimedia" => array:7 [
        "identificador" => "fig0010"
        "etiqueta" => "Figure 2"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
          0 => array:4 [
            "imagen" => "gr2.jpeg"
            "Alto" => 1413
            "Ancho" => 2079
            "Tamanyo" => 268529
          ]
        ]
        "descripcion" => array:1 [
          "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Two novel heterozygous variants in the RECQL4 gene confirmed by gene sequencing&#46; One was in the splice site&#44; c&#46;1391-2A&#62;C from her father&#44; and also was seen in her sister&#46; The other was a deletion mutation&#44; c&#46;2492&#95;2493delAT &#40;p&#46;His831Argfs&#41; from her mother&#46;</p>"
        ]
      ]
    ]
    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Rothmund-Thomson syndrome &#40;RTS&#41; is a rare autosomal recessive disorder that is characterized by facial rash &#40;poikiloderma&#44; a diagnostic hallmark&#41;&#44; growth retardation&#44; sparse scalp hair&#47;eyelashes&#47;eyebrows&#44; juvenile cataracts&#44; skeletal abnormalities&#44; radial ray defects&#44; and a predisposition to cancer&#46; There are two clinical forms&#58; type I&#44; which is characterized by poikiloderma&#44; ectodermal dysplasia&#44; and juvenile cataracts with unknown etiology&#44; and type II which is characterized by poikiloderma&#44; congenital bone defects&#44; an increased frequency of malignancy &#40;especially osteosarcoma&#41;&#44; and RECQL4 &#40;8q24&#46;3&#41; mutation&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">1</span></a> To date&#44; around 400 cases have been reported&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall">Here&#44; the authors report a case of poikiloderma and growth retardation in a Chinese girl presenting two RECQL4 mutations in a novel&#44; compound heterozygous arrangement &#40;c&#46;2492&#95;2493del and c&#46;1391-2A&#62;C&#41; recorded <span class="elsevierStyleItalic">via</span> mutational screening&#44; which is the first reported in RTS&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">The proband is a 2-year-old girl with poikiloderma bilaterally on her face and ears&#46; Her parents complained that their younger daughter showed erythema&#44; swelling&#44; and blistering bilaterally on her face since the age of 6 months&#44; which gradually developed to reticulated hypo- and hyperpigmentation&#46; The girl also presented with thinning of eyebrows&#44; photosensitivity&#44; and gastrointestinal problems including chronic emesis or diarrhea&#46; Neither her parents nor her 5-year-old sister has similar symptoms&#46; The patient was born at full term with a mild toe abnormality&#46; However&#44; slow weight gain&#44; short stature&#44; and teeth retardation were noted on a physical examination&#46; The dermatological examination found bilateral depigmentation&#44; hyperpigmentation&#44; punctate atrophy&#44; and telangiectasia over the patient&#39;s face and ears &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46; Bone mineral density measurement was performed at 1 year of age&#44; which showed low bone mineral density&#46; Her cognitive ability&#44; ophthalmic testing&#44; and other examination results were within normal limits and no other alterations were found&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">For differential molecular diagnosis of poikiloderma&#44; targeted exome sequencing was performed&#46; Mutational screening for BLM&#44; the defective gene in Bloom&#39;s syndrome and other poikiloderma-related diseases&#44; was negative&#46; Gene sequencing revealed two distinct heterozygous mutations on the RECQL4 gene &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46; One of them is a point mutation located in exon 9&#44; consisting of a change of adenine for cytosine &#40;c&#46;1391-2A&#62;C&#41;&#44; which was found in her unaffected father and sister&#46; This mutation has not been reported&#44; but the possible effect on the protein through a splice acceptor variant can be assumed&#46; On the other allele&#44; the mutation is a deletion of two nucleotides found in exon 16 &#40;c&#46;2492&#95;2493delAT&#41;&#44; which produces a frame shift &#40;p&#46;His831Argfs&#41;&#59; this mutation is known to be rare and last evaluated by Kitao et al&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">2</span></a> This mutation was found in her unaffected mother&#46; These two mutations of the proband respectively come from her father and mother&#44; known as compound heterozygous mutations&#44; and accord with the autosomal recessive inheritance law&#46; Her sister only presents c&#46;1391-2A&#62;C&#44; which is a heterozygous mutation and&#44; theoretically&#44; she won&#8217;t show any symptoms&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">The patient reported here has the clinical signs like poikiloderma&#44; sparse eyebrows&#44; small stature&#44; dental abnormality&#44; and mild skeletal abnormality&#44; which are mentioned in the previous articles&#46;<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">3&#44;4</span></a> No cataracts and cancer have been found so far&#46; Unlike other previous cases&#44; the lesion doesn&#8217;t affect her extremities&#44; and the authors consider that she is too young to show all the symptoms&#46; RTS was diagnosed according to typical lesion and mutation of RECQL4 gene&#44; and the patient was advised to avoid sun exposure and undergo annual checkups for the eyes&#44; skin&#44; and bones&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">The novels compound heterozygous RECQL4 mutations presented in this patient is the first reported in RTS&#46; Loss of RECQL4 protein function occurs in approximately two-thirds of RTS patients and is associated with risk of osteosarcoma&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">5</span></a> Further functional studies to confirm the protein-damaging effect are needed to proceed&#46; Poikiloderma is a symptom of many systemic diseases&#44; such as lupus erythematosus&#44; Bloom syndrome&#44; Kindler syndrome&#44; and dyskeratosis congenita&#46; The result of genetic testing is instructive and meaningful to a definitive diagnosis and future procreation guidance for the patient&#39;s family&#46;</p><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Financial support</span><p id="par0050" class="elsevierStylePara elsevierViewall">None declared&#46;</p></span><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Authors&#8217; contributions</span><p id="par0035" class="elsevierStylePara elsevierViewall">Xinyue Zhang&#58; Drafting and editing of the manuscript&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">Songmei Geng&#58; Approval of final version of the manuscript&#59; intellectual participation in the propaedeutic and&#47;or therapeutic conduct of the studied cases&#46;</p><p id="par0045" class="elsevierStylePara elsevierViewall">Yi Zheng&#58; Critical review of the literature&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Conflicts of interest</span><p id="par0055" class="elsevierStylePara elsevierViewall">None declared&#46;</p></span></span>"
    "textoCompletoSecciones" => array:1 [
      "secciones" => array:4 [
        0 => array:2 [
          "identificador" => "sec0010"
          "titulo" => "Financial support"
        ]
        1 => array:2 [
          "identificador" => "sec0005"
          "titulo" => "Authors&#8217; contributions"
        ]
        2 => array:2 [
          "identificador" => "sec0015"
          "titulo" => "Conflicts of interest"
        ]
        3 => array:1 [
          "titulo" => "References"
        ]
      ]
    ]
    "pdfFichero" => "main.pdf"
    "tienePdf" => true
    "fechaRecibido" => "2019-01-12"
    "fechaAceptado" => "2019-10-04"
    "NotaPie" => array:2 [
      0 => array:2 [
        "etiqueta" => "&#9734;"
        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">How to cite this article&#58; Zhang X&#44; Geng S&#44; Zheng Y&#46; Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene&#46; An Bras Dermatol&#46; 2020&#59;95&#58;538&#8211;40&#46;</p>"
      ]
      1 => array:2 [
        "etiqueta" => "&#9734;&#9734;"
        "nota" => "<p class="elsevierStyleNotepara" id="npar0010">Study conducted at the Department of Dermatology&#44; Second Affiliated Hospital&#44; Xi&#8217;An Jiaotong University&#44; Shaanxi&#44; China&#46;</p>"
      ]
    ]
    "multimedia" => array:2 [
      0 => array:7 [
        "identificador" => "fig0005"
        "etiqueta" => "Figure 1"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
          0 => array:4 [
            "imagen" => "gr1.jpeg"
            "Alto" => 1064
            "Ancho" => 1674
            "Tamanyo" => 304293
          ]
        ]
        "descripcion" => array:1 [
          "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Poikiloderma in a patient with RTS&#46; Depigmentation&#44; hyperpigmentation&#44; punctate atrophy&#44; telangiectasia&#44; and loss of eyebrows are seen bilaterally on the face&#46;</p>"
        ]
      ]
      1 => array:7 [
        "identificador" => "fig0010"
        "etiqueta" => "Figure 2"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
          0 => array:4 [
            "imagen" => "gr2.jpeg"
            "Alto" => 1413
            "Ancho" => 2079
            "Tamanyo" => 268529
          ]
        ]
        "descripcion" => array:1 [
          "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Two novel heterozygous variants in the RECQL4 gene confirmed by gene sequencing&#46; One was in the splice site&#44; c&#46;1391-2A&#62;C from her father&#44; and also was seen in her sister&#46; The other was a deletion mutation&#44; c&#46;2492&#95;2493delAT &#40;p&#46;His831Argfs&#41; from her mother&#46;</p>"
        ]
      ]
    ]
    "bibliografia" => array:2 [
      "titulo" => "References"
      "seccion" => array:1 [
        0 => array:2 [
          "identificador" => "bibs0015"
          "bibliografiaReferencia" => array:5 [
            0 => array:3 [
              "identificador" => "bib0030"
              "etiqueta" => "1"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Rothmund-Thomson syndrome"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [
                            0 => "L&#46; Larizza"
                            1 => "G&#46; Roversi"
                            2 => "L&#46; Volpi"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1186/1750-1172-5-2"
                      "Revista" => array:5 [
                        "tituloSerie" => "Orphanet J Rare Dis"
                        "fecha" => "2010"
                        "volumen" => "5"
                        "paginaInicial" => "2"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/20113479"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            1 => array:3 [
              "identificador" => "bib0035"
              "etiqueta" => "2"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "M&#46;C&#46; van Rij"
                            1 => "M&#46;L&#46; Grijsen"
                            2 => "N&#46;M&#46; Appelman-Dijkstra"
                            3 => "K&#46;B&#46; Hansson"
                            4 => "C&#46;A&#46; Ruivenkamp"
                            5 => "K&#46; Mulder"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1007/s00431-016-2834-3"
                      "Revista" => array:6 [
                        "tituloSerie" => "Eur J Pediatr"
                        "fecha" => "2017"
                        "volumen" => "176"
                        "paginaInicial" => "279"
                        "paginaFinal" => "283"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/28039508"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            2 => array:3 [
              "identificador" => "bib0040"
              "etiqueta" => "3"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Clinical utility gene card for&#58; Rothmund-Thomson syndrome"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [
                            0 => "L&#46; Larizza"
                            1 => "G&#46; Roversi"
                            2 => "A&#46; Verloes"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:4 [
                        "tituloSerie" => "Eur J Hum Genet"
                        "fecha" => "2013"
                        "volumen" => "21"
                        "paginaInicial" => "7"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            3 => array:3 [
              "identificador" => "bib0045"
              "etiqueta" => "4"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:5 [
                            0 => "J&#46;Y&#46; Yang"
                            1 => "Y&#46;B&#46; Sohn"
                            2 => "J&#46;S&#46; Lee"
                            3 => "J&#46;H&#46; Jang"
                            4 => "E&#46;S&#46; Lee"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.jdcr.2017.01.023"
                      "Revista" => array:6 [
                        "tituloSerie" => "JAAD Case Rep"
                        "fecha" => "2017"
                        "volumen" => "3"
                        "paginaInicial" => "172"
                        "paginaFinal" => "174"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/28443301"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            4 => array:3 [
              "identificador" => "bib0050"
              "etiqueta" => "5"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "The mutation spectrum in RECQL4 diseases"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "H&#46;A&#46; Siitonen"
                            1 => "J&#46; Sotkasiira"
                            2 => "M&#46; Biervliet"
                            3 => "A&#46; Benmansour"
                            4 => "Y&#46; Capri"
                            5 => "V&#46; Cormier-Daire"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1038/ejhg.2008.154"
                      "Revista" => array:6 [
                        "tituloSerie" => "Eur J Hum Genet"
                        "fecha" => "2009"
                        "volumen" => "17"
                        "paginaInicial" => "151"
                        "paginaFinal" => "158"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/18716613"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
          ]
        ]
      ]
    ]
  ]
  "idiomaDefecto" => "en"
  "url" => "/03650596/0000009500000004/v3_202008041755/S0365059620301252/v3_202008041755/en/main.assets"
  "Apartado" => array:4 [
    "identificador" => "82769"
    "tipo" => "SECCION"
    "en" => array:2 [
      "titulo" => "Case Letter"
      "idiomaDefecto" => true
    ]
    "idiomaDefecto" => "en"
  ]
  "PDF" => "https://static.elsevier.es/multimedia/03650596/0000009500000004/v3_202008041755/S0365059620301252/v3_202008041755/en/main.pdf?idApp=UINPBA00008Z&text.app=https://clinics.elsevier.es/"
  "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0365059620301252?idApp=UINPBA00008Z"
]
Informação do artigo
ISSN: 03650596
Idioma original: Inglês
Dados atualizados diariamente
Ano/Mês Html Pdf Total
2024 Novembro 17 10 27
2024 Outubro 101 80 181
2024 Setembro 144 72 216
2024 Agosto 170 101 271
2024 Julho 136 107 243
2024 Junho 130 66 196
2024 Maio 142 74 216
2024 Abril 138 77 215
2024 Março 97 57 154
2024 Fevereiro 93 79 172
2024 Janeiro 61 52 113
2023 Dezembro 55 58 113
2023 Novembro 73 72 145
2023 Outubro 59 74 133
2023 Setembro 81 76 157
2023 Agosto 64 43 107
2023 Julho 60 31 91
2023 Junho 69 47 116
2023 Maio 49 30 79
2023 Abril 45 33 78
2023 Março 65 49 114
2023 Fevereiro 46 34 80
2023 Janeiro 47 47 94
2022 Dezembro 56 24 80
2022 Novembro 75 48 123
2022 Outubro 72 45 117
2022 Setembro 56 72 128
2022 Agosto 45 45 90
2022 Julho 38 55 93
2022 Junho 43 68 111
2022 Maio 39 72 111
2022 Abril 36 48 84
2022 Março 49 66 115
2022 Fevereiro 18 32 50
2022 Janeiro 53 75 128
2021 Dezembro 40 59 99
2021 Novembro 40 56 96
2021 Outubro 51 79 130
2021 Setembro 36 39 75
2021 Agosto 41 48 89
2021 Julho 35 44 79
2021 Junho 36 62 98
2021 Maio 49 81 130
2021 Abril 120 285 405
2021 Março 101 54 155
2021 Fevereiro 60 25 85
2021 Janeiro 73 21 94
2020 Dezembro 36 20 56
2020 Novembro 27 15 42
2020 Outubro 15 9 24
2020 Setembro 29 16 45
2020 Agosto 9 14 23
2020 Julho 30 15 45
2020 Junho 15 11 26
2020 Maio 3 5 8
Mostrar tudo

Siga este link para acessar o texto completo do artigo

Idiomas
Anais Brasileiros de Dermatologia (Portuguese)
en pt
Cookies policy Política de cookies
To improve our services and products, we use "cookies" (own or third parties authorized) to show advertising related to client preferences through the analyses of navigation customer behavior. Continuing navigation will be considered as acceptance of this use. You can change the settings or obtain more information by clicking here. Utilizamos cookies próprios e de terceiros para melhorar nossos serviços e mostrar publicidade relacionada às suas preferências, analisando seus hábitos de navegação. Se continuar a navegar, consideramos que aceita o seu uso. Você pode alterar a configuração ou obter mais informações aqui.