Case report
New Mutation in the Birt Hogg Dube Gene
Nueva mutación en el síndrome de Birt Hogg Dubé
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"apellidos" => "Sempau" "email" => array:1 [ 0 => "leticiasempau@gmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">¿</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "I." "apellidos" => "Ruiz" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "A." "apellidos" => "González-Morán" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 3 => array:3 [ "nombre" => "X." "apellidos" => "Susanna" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] 4 => array:3 [ "nombre" => "T.V.O." 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We present the case of a 54-year-old woman with a long history of whitish papules in the central region of the face and a family history of similar lesions. Biopsy and genetic study revealed a new mutation of the gene involved in Birt-Hogg-Dube syndrome.</p>" ] "es" => array:2 [ "titulo" => "Resumen" "resumen" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">El Birt Hogg Dubé es un síndrome que predispone a la aparición de hamartomas del folículo pilosebáceo y a mayor riesgo de presentar tumores renales de diversa estirpe, quistes pulmonares y neumotórax espontáneos.</p><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Presentamos el caso de una mujer de 54 años que presenta desde hace años pápulas blanquecinas centrofaciales e historia familiar de esas mismas pápulas. Tras biopsia y estudio genético de la paciente se detecta una nueva mutación en el gen implicado en este síndrome.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:14 [ 0 => array:3 [ "identificador" => "bib1" "etiqueta" => "1." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Clinical and genetic studies of Birt-Hogg-Dube syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "S.K. Khoo" 1 => "S. Giraud" 2 => "K. Kahnoski" 3 => "J. Chen" 4 => "O. Motorna" 5 => "R. 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|---|---|---|---|
| 2024 Noviembre | 8 | 12 | 20 |
| 2024 Octubre | 58 | 42 | 100 |
| 2024 Septiembre | 60 | 36 | 96 |
| 2024 Agosto | 78 | 60 | 138 |
| 2024 Julio | 63 | 58 | 121 |
| 2024 Junio | 56 | 40 | 96 |
| 2024 Mayo | 47 | 36 | 83 |
| 2024 Abril | 42 | 34 | 76 |
| 2024 Marzo | 52 | 48 | 100 |
| 2024 Febrero | 37 | 39 | 76 |
| 2024 Enero | 35 | 43 | 78 |
| 2023 Diciembre | 45 | 33 | 78 |
| 2023 Noviembre | 41 | 45 | 86 |
| 2023 Octubre | 42 | 37 | 79 |
| 2023 Septiembre | 49 | 31 | 80 |
| 2023 Agosto | 29 | 25 | 54 |
| 2023 Julio | 44 | 49 | 93 |
| 2023 Junio | 46 | 22 | 68 |
| 2023 Mayo | 58 | 36 | 94 |
| 2023 Abril | 38 | 29 | 67 |
| 2023 Marzo | 55 | 25 | 80 |
| 2023 Febrero | 37 | 24 | 61 |
| 2023 Enero | 24 | 47 | 71 |
| 2022 Diciembre | 26 | 34 | 60 |
| 2022 Noviembre | 15 | 32 | 47 |
| 2022 Octubre | 14 | 30 | 44 |
| 2022 Septiembre | 14 | 40 | 54 |
| 2022 Agosto | 19 | 51 | 70 |
| 2022 Julio | 15 | 44 | 59 |
| 2022 Junio | 12 | 30 | 42 |
| 2022 Mayo | 19 | 41 | 60 |
| 2022 Abril | 21 | 54 | 75 |
| 2022 Marzo | 24 | 56 | 80 |
| 2022 Febrero | 21 | 29 | 50 |
| 2022 Enero | 24 | 46 | 70 |
| 2021 Diciembre | 41 | 43 | 84 |
| 2021 Noviembre | 23 | 52 | 75 |
| 2021 Octubre | 28 | 54 | 82 |
| 2021 Septiembre | 21 | 50 | 71 |
| 2021 Agosto | 17 | 30 | 47 |
| 2021 Julio | 21 | 37 | 58 |
| 2021 Junio | 19 | 27 | 46 |
| 2021 Mayo | 17 | 32 | 49 |
| 2021 Abril | 64 | 36 | 100 |
| 2021 Marzo | 47 | 18 | 65 |
| 2021 Febrero | 79 | 26 | 105 |
| 2021 Enero | 38 | 16 | 54 |
| 2020 Diciembre | 32 | 18 | 50 |
| 2020 Noviembre | 19 | 23 | 42 |
| 2020 Octubre | 19 | 10 | 29 |
| 2020 Septiembre | 17 | 20 | 37 |
| 2020 Agosto | 27 | 19 | 46 |
| 2020 Julio | 12 | 4 | 16 |
| 2020 Junio | 23 | 30 | 53 |
| 2020 Mayo | 19 | 28 | 47 |
| 2020 Abril | 17 | 21 | 38 |
| 2020 Marzo | 19 | 20 | 39 |
| 2020 Febrero | 0 | 5 | 5 |
| 2020 Enero | 0 | 12 | 12 |
| 2019 Diciembre | 0 | 12 | 12 |
| 2019 Noviembre | 0 | 7 | 7 |
| 2019 Octubre | 0 | 9 | 9 |
| 2019 Septiembre | 0 | 5 | 5 |
| 2019 Agosto | 0 | 2 | 2 |
| 2019 Julio | 0 | 11 | 11 |
| 2019 Junio | 0 | 1 | 1 |
| 2019 Mayo | 2 | 56 | 58 |
| 2019 Abril | 0 | 23 | 23 |
| 2019 Marzo | 0 | 6 | 6 |
| 2019 Febrero | 0 | 7 | 7 |
| 2018 Marzo | 1 | 0 | 1 |
| 2018 Febrero | 8 | 4 | 12 |
| 2018 Enero | 13 | 9 | 22 |
| 2017 Diciembre | 11 | 9 | 20 |
| 2017 Noviembre | 15 | 2 | 17 |
| 2017 Octubre | 17 | 6 | 23 |
| 2017 Septiembre | 16 | 3 | 19 |
| 2017 Agosto | 24 | 7 | 31 |
| 2017 Julio | 25 | 6 | 31 |
| 2017 Junio | 20 | 16 | 36 |
| 2017 Mayo | 15 | 7 | 22 |
| 2017 Abril | 17 | 6 | 23 |
| 2017 Marzo | 16 | 5 | 21 |
| 2017 Febrero | 11 | 12 | 23 |
| 2017 Enero | 8 | 7 | 15 |
| 2016 Diciembre | 21 | 18 | 39 |
| 2016 Noviembre | 12 | 8 | 20 |
| 2016 Octubre | 17 | 16 | 33 |
| 2016 Septiembre | 31 | 8 | 39 |
| 2016 Agosto | 36 | 10 | 46 |
| 2016 Julio | 26 | 5 | 31 |
| 2016 Junio | 11 | 6 | 17 |
| 2016 Mayo | 5 | 5 | 10 |
| 2016 Abril | 7 | 12 | 19 |
| 2016 Marzo | 3 | 9 | 12 |
| 2016 Febrero | 6 | 12 | 18 |
| 2016 Enero | 6 | 12 | 18 |
| 2015 Diciembre | 8 | 10 | 18 |
| 2015 Noviembre | 11 | 14 | 25 |
| 2015 Octubre | 6 | 11 | 17 |
| 2015 Septiembre | 4 | 7 | 11 |
| 2015 Agosto | 11 | 2 | 13 |
| 2015 Julio | 35 | 7 | 42 |
| 2015 Junio | 26 | 1 | 27 |
| 2015 Mayo | 65 | 6 | 71 |
| 2015 Abril | 37 | 4 | 41 |
| 2015 Marzo | 30 | 13 | 43 |
| 2015 Febrero | 32 | 20 | 52 |
| 2015 Enero | 13 | 11 | 24 |
| 2014 Diciembre | 21 | 6 | 27 |
| 2014 Noviembre | 18 | 16 | 34 |
| 2014 Octubre | 30 | 21 | 51 |
| 2014 Septiembre | 28 | 15 | 43 |
| 2014 Agosto | 33 | 18 | 51 |
| 2014 Julio | 29 | 17 | 46 |
| 2014 Junio | 38 | 15 | 53 |
| 2014 Mayo | 41 | 12 | 53 |
| 2014 Abril | 36 | 4 | 40 |
| 2014 Marzo | 45 | 11 | 56 |
| 2014 Febrero | 22 | 14 | 36 |
| 2014 Enero | 28 | 14 | 42 |
| 2013 Diciembre | 31 | 15 | 46 |
| 2013 Noviembre | 27 | 14 | 41 |
| 2013 Octubre | 28 | 17 | 45 |
| 2013 Septiembre | 28 | 19 | 47 |
| 2013 Agosto | 13 | 12 | 25 |
| 2013 Julio | 36 | 21 | 57 |
| 2013 Junio | 17 | 19 | 36 |
| 2013 Mayo | 20 | 11 | 31 |
| 2013 Abril | 16 | 19 | 35 |
| 2013 Marzo | 24 | 13 | 37 |
| 2013 Febrero | 12 | 9 | 21 |
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