Image in medicine
Brooke-Spiegler syndrome
Síndrome de Brooke-Spiegler
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Family history revealed that his paternal grandmother and two brothers had similar skin lesions, starting after age 30. Physical examination revealed multiple, asymptomatic, dome-shaped, pinkish-red, and pale blue nodules, as well as flesh-colored papules on the scalp and shoulders (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). Histopathological examination of a pinkish-red and a pale blue nodule revealed typical findings of cylindroma and spiradenoma, respectively. Genetic testing was performed, revealing a heterozygous nonsense mutation in exon 9 of the CYLD gene (c.1112C>A, p. (Ser371*)). Based on these findings, the diagnosis of Brooke-Spiegler syndrome was established. Sequential excision of the larger tumors and CO<span class="elsevierStyleInf">2</span> laser on the remaining tumors were performed.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">Brooke-Spiegler syndrome is a rare, inherited, autosomal dominant disorder characterized by the development of multiple adnexal neoplasms, including spiradenomas, cylindromas, and trichoepitheliomas, and major and minor salivary glands neoplasms. Although these tumors are usually benign, they can be disfiguring and also hold the potential risk of turning malignant (5–10%). In addition, patients have an increased risk of adenocarcinoma of major and minor salivary glands, with parotid gland tumors being the most commonly reported.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding</span><p id="par0015" class="elsevierStylePara elsevierViewall">This article has no funding source.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Ethical approval</span><p id="par0040" class="elsevierStylePara elsevierViewall">The authors declare that the procedures were followed according to the regulations established by the Clinical Research and Ethics Committee and to the Helsinki Declaration of the World Medical Association, updated in 2013.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Conflict of interest</span><p id="par0020" class="elsevierStylePara elsevierViewall">The authors have no conflict of interest to declare.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:3 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Funding" ] 1 => array:2 [ "identificador" => "sec0015" "titulo" => "Ethical approval" ] 2 => array:2 [ "identificador" => "sec0010" "titulo" => "Conflict of interest" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "multimedia" => array:1 [ 0 => array:6 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1101 "Ancho" => 1200 "Tamanyo" => 236762 ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/23870206/0000016000000010/v2_202311101432/S2387020623001791/v2_202311101432/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/23870206/0000016000000010/v2_202311101432/S2387020623001791/v2_202311101432/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020623001791?idApp=UINPBA00004N" ]
