Case reports
Birt-Hogg-Dubé Syndrome in a Patient With Cutaneous Symptoms and a c.1429 C>T; p.R477X Mutation in Exon 12 of the Folliculin Gene
Síndrome de Birt-Hogg-Dubé, en un Paciente con Clínica Cutánea y Mutación en el Exón 12 del Gen BHD: c.1429 C> T; p.R477X
I. Fuertes
, J.M. Mascaró-Galy, J. Ferrando
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tressoles8113@hotmail.com
Correspondencia: Servicio de Dermatología, Hospital Clínic, C/Villarroel, 170, 08036 Barcelona, Spain.
Correspondencia: Servicio de Dermatología, Hospital Clínic, C/Villarroel, 170, 08036 Barcelona, Spain.
Servicio de Dermatología, Hospital Clínic, Universidad de Barcelona, Barcelona, Spain
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"apellidos" => "Fuertes" "email" => array:1 [ 0 => "tressoles8113@hotmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">¿</span>" "identificador" => "cor1" ] ] ] 1 => array:2 [ "nombre" => "J.M." "apellidos" => "Mascaró-Galy" ] 2 => array:2 [ "nombre" => "J." "apellidos" => "Ferrando" ] ] "afiliaciones" => array:1 [ 0 => array:1 [ "entidad" => "Servicio de Dermatología, Hospital Clínic, Universidad de Barcelona, Barcelona, Spain" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor1" "etiqueta" => "⁎" "correspondencia" => "Correspondencia: Servicio de Dermatología, Hospital Clínic, C/Villarroel, 170, 08036 Barcelona, Spain." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Síndrome de Birt-Hogg-Dubé, en un Paciente con Clínica Cutánea y Mutación en el Exón 12 del Gen BHD: c.1429 C> T; p.R477X" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaAceptado" => "2008-07-07" "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Key words" "identificador" => "xpalclavsec84422" "palabras" => array:3 [ 0 => "Birt-Hogg-Dubé syndrome" 1 => "fibrofolliculoma" 2 => "folliculin gene" ] ] ] "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec84421" "palabras" => array:3 [ 0 => "síndrome de Birt-Hogg-Dubé" 1 => "fibrofoliculoma" 2 => "gen FCLN" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<p class="elsevierStyleSimplePara elsevierViewall">Birt-Hogg-Dubé syndrome is an autosomal dominant genodermatosis characterized by the presence of fibrofolliculomas, renal cancer, pulmonary cysts, and spontaneous pneumothorax. Recently, the folliculin gene responsible for this process has been identified, located on the short arm of chromosome 17. We present the case of a 49-year-old man with multiple whitish papules on the face, neck, and retroauricular area. Histology was compatible with fibrofolliculoma and genetic study showed a pathogenic mutation of the folliculin gene.</p>" ] "es" => array:2 [ "titulo" => "Resumen" "resumen" => "<p class="elsevierStyleSimplePara elsevierViewall">El síndrome de Birt-Hogg-Dubé es una genodermatosis de herencia autosómica dominantecaracterizada por la presencia de fibrofoliculomas, cáncer renal, quistes pulmonares y pneumotórax espontáneo. Recientemente ha sido identificado el gen FCLN, responsable de este proceso, localizado en el brazo corto del cromosoma 17. Presentamos el caso de un varón de 49 años, con múltiples pápulas blanquecinas en la cara, el cuello y el área retroauricular. La histología fue compatible con fibrofoliculoma y el estudio genético demostró una mutación patogénica en el gen FCLN.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:1 [ "bibliografiaReferencia" => array:24 [ 0 => array:3 [ "identificador" => "bib1" "etiqueta" => "1." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "L.S. Schmidt" 1 => "M.L. Nickerson" 2 => "M.B. Warren" 3 => "G.M. Glenn" 4 => "J.R. Toro" 5 => "M.J. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 3 | 5 | 8 |
| 2024 October | 62 | 78 | 140 |
| 2024 September | 67 | 54 | 121 |
| 2024 August | 121 | 81 | 202 |
| 2024 July | 60 | 55 | 115 |
| 2024 June | 57 | 80 | 137 |
| 2024 May | 49 | 53 | 102 |
| 2024 April | 61 | 50 | 111 |
| 2024 March | 55 | 47 | 102 |
| 2024 February | 51 | 49 | 100 |
| 2024 January | 51 | 50 | 101 |
| 2023 December | 42 | 36 | 78 |
| 2023 November | 44 | 52 | 96 |
| 2023 October | 45 | 37 | 82 |
| 2023 September | 35 | 31 | 66 |
| 2023 August | 32 | 29 | 61 |
| 2023 July | 38 | 80 | 118 |
| 2023 June | 36 | 57 | 93 |
| 2023 May | 44 | 84 | 128 |
| 2023 April | 26 | 51 | 77 |
| 2023 March | 20 | 37 | 57 |
| 2023 February | 21 | 34 | 55 |
| 2023 January | 24 | 32 | 56 |
| 2022 December | 21 | 51 | 72 |
| 2022 November | 16 | 40 | 56 |
| 2022 October | 14 | 17 | 31 |
| 2022 September | 12 | 29 | 41 |
| 2022 August | 19 | 35 | 54 |
| 2022 July | 22 | 33 | 55 |
| 2022 June | 18 | 28 | 46 |
| 2022 May | 24 | 51 | 75 |
| 2022 April | 23 | 44 | 67 |
| 2022 March | 25 | 56 | 81 |
| 2022 February | 23 | 36 | 59 |
| 2022 January | 27 | 59 | 86 |
| 2021 December | 17 | 46 | 63 |
| 2021 November | 31 | 47 | 78 |
| 2021 October | 35 | 61 | 96 |
| 2021 September | 22 | 50 | 72 |
| 2021 August | 41 | 44 | 85 |
| 2021 July | 32 | 54 | 86 |
| 2021 June | 28 | 43 | 71 |
| 2021 May | 30 | 40 | 70 |
| 2021 April | 76 | 43 | 119 |
| 2021 March | 105 | 43 | 148 |
| 2021 February | 62 | 37 | 99 |
| 2021 January | 41 | 23 | 64 |
| 2020 December | 27 | 16 | 43 |
| 2020 November | 26 | 28 | 54 |
| 2020 October | 30 | 17 | 47 |
| 2020 September | 16 | 14 | 30 |
| 2020 August | 34 | 33 | 67 |
| 2020 July | 33 | 15 | 48 |
| 2020 June | 16 | 46 | 62 |
| 2020 May | 22 | 36 | 58 |
| 2020 April | 25 | 32 | 57 |
| 2020 March | 18 | 33 | 51 |
| 2020 February | 1 | 14 | 15 |
| 2020 January | 0 | 14 | 14 |
| 2019 December | 0 | 15 | 15 |
| 2019 November | 0 | 5 | 5 |
| 2019 October | 0 | 12 | 12 |
| 2019 September | 0 | 25 | 25 |
| 2019 August | 0 | 3 | 3 |
| 2019 July | 0 | 10 | 10 |
| 2019 June | 0 | 7 | 7 |
| 2019 May | 0 | 50 | 50 |
| 2019 April | 0 | 30 | 30 |
| 2019 March | 0 | 5 | 5 |
| 2019 February | 0 | 8 | 8 |
| 2019 January | 0 | 2 | 2 |
| 2018 December | 0 | 7 | 7 |
| 2018 April | 0 | 1 | 1 |
| 2018 March | 1 | 1 | 2 |
| 2018 February | 7 | 3 | 10 |
| 2018 January | 11 | 6 | 17 |
| 2017 December | 13 | 9 | 22 |
| 2017 November | 11 | 5 | 16 |
| 2017 October | 10 | 7 | 17 |
| 2017 September | 7 | 6 | 13 |
| 2017 August | 12 | 7 | 19 |
| 2017 July | 7 | 3 | 10 |
| 2017 June | 22 | 23 | 45 |
| 2017 May | 14 | 5 | 19 |
| 2017 April | 14 | 15 | 29 |
| 2017 March | 15 | 8 | 23 |
| 2017 February | 9 | 7 | 16 |
| 2017 January | 13 | 3 | 16 |
| 2016 December | 22 | 8 | 30 |
| 2016 November | 15 | 5 | 20 |
| 2016 October | 18 | 15 | 33 |
| 2016 September | 27 | 7 | 34 |
| 2016 August | 27 | 5 | 32 |
| 2016 July | 17 | 9 | 26 |
| 2016 June | 16 | 10 | 26 |
| 2016 May | 7 | 3 | 10 |
| 2016 April | 6 | 6 | 12 |
| 2016 March | 8 | 3 | 11 |
| 2016 February | 11 | 1 | 12 |
| 2016 January | 2 | 1 | 3 |
| 2015 December | 8 | 0 | 8 |
| 2015 November | 13 | 1 | 14 |
| 2015 October | 10 | 2 | 12 |
| 2015 September | 7 | 2 | 9 |
| 2015 August | 17 | 4 | 21 |
| 2015 July | 40 | 7 | 47 |
| 2015 June | 39 | 4 | 43 |
| 2015 May | 79 | 10 | 89 |
| 2015 April | 40 | 2 | 42 |
| 2015 March | 40 | 9 | 49 |
| 2015 February | 31 | 5 | 36 |
| 2015 January | 30 | 9 | 39 |
| 2014 December | 25 | 4 | 29 |
| 2014 November | 26 | 17 | 43 |
| 2014 October | 38 | 18 | 56 |
| 2014 September | 39 | 15 | 54 |
| 2014 August | 30 | 19 | 49 |
| 2014 July | 47 | 21 | 68 |
| 2014 June | 46 | 13 | 59 |
| 2014 May | 46 | 9 | 55 |
| 2014 April | 55 | 8 | 63 |
| 2014 March | 79 | 15 | 94 |
| 2014 February | 40 | 16 | 56 |
| 2014 January | 48 | 16 | 64 |
| 2013 December | 46 | 10 | 56 |
| 2013 November | 27 | 20 | 47 |
| 2013 October | 33 | 10 | 43 |
| 2013 September | 31 | 15 | 46 |
| 2013 August | 27 | 11 | 38 |
| 2013 July | 30 | 16 | 46 |
| 2013 June | 31 | 10 | 41 |
| 2013 May | 20 | 10 | 30 |
| 2013 April | 27 | 16 | 43 |
| 2013 March | 26 | 16 | 42 |
| 2013 February | 31 | 10 | 41 |
| 2013 January | 12 | 4 | 16 |
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