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Concomitantly evaluated in rheumatology due to aseptic arthritis with scintigraphic uptake in different joints of the hands and feet (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">Given the history and clinical course compatible with PAPASH syndrome (pyogenic arthritis, PG, acne, and HS), a genetic study is requested with a panel of autoinflammatory diseases, observing a mutation of the p.Met694Ile residue in the MEFV gene.</p><p id="par0015" class="elsevierStylePara elsevierViewall">PG is a neutrophilic dermatosis that can occur in isolation or in the context of autoinflammatory syndromes such as PAPASH. Mutations in the PSTPIP1 and MEFV genes have been described for this syndrome, which determine an overproduction of IL-1β in the inflammasome. These changes induce the development of predominantly neutrophilic sterile inflammatory infiltrates in the skin and joints.</p><p id="par0020" class="elsevierStylePara elsevierViewall">Mutations in the Met694 residue of the MEFV gene are associated with autoinflammatory processes. The p.Met694V variant is commonly observed in patients with familial Mediterranean fever and has recently been associated with PAPASH syndrome. We report for the first time a case of PAPASH syndrome with p.Met694Ile mutation as an associated pathogenic variant.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding</span><p id="par0025" class="elsevierStylePara elsevierViewall">For the preparation of this article, no assistance or financial funding has been received from public or private entities.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:1 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Funding" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Monte Serrano J, de la Fuente Meira S, Cruañes Monferrer J, García-Gil MF. Síndrome PAPASH con mutación en el gen MEFV. Med Clin (Barc). 2021;156:317.</p>" ] ] "multimedia" => array:2 [ 0 => array:6 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 825 "Ancho" => 950 "Tamanyo" => 174726 ] ] ] 1 => array:6 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 385 "Ancho" => 950 "Tamanyo" => 29765 ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/23870206/0000015600000006/v1_202103200954/S238702062100067X/v1_202103200954/en/main.assets" "Apartado" => array:4 [ "identificador" => "51820" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Images in medicine" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/23870206/0000015600000006/v1_202103200954/S238702062100067X/v1_202103200954/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S238702062100067X?idApp=UINPBA00004N" ]
Journal Information
Vol. 156. Issue 6.
Pages 313 (March 2021)
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Vol. 156. Issue 6.
Pages 313 (March 2021)
Image in medicine
PAPASH syndrome with MEFV gene mutation
Síndrome PAPASH con mutación en el gen MEFV
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