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"documento" => "simple-article" "crossmark" => 1 "subdocumento" => "cor" "cita" => "Med Clin. 2023;160:367-8" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Letter to the Editor</span>" "titulo" => "Pilonidal sinus disease and hidradenitis suppurativa due to Pazopanib" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "367" "paginaFinal" => "368" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Sinus pilonidal e hidrosadenitis supurativa asociados a Pazopanib" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1228 "Ancho" => 2507 "Tamanyo" => 366484 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(a) Abscesses (arrows), fistulous tracts (dotted lines), erythematous tender nodules and ulcers in the right groin, pubic and perianal area. 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(b) Ulceration of fistulous tracts (*) and abscesses (arrowhead).</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Francisco Javier García-Martínez, Angela Estenaga Pérez de Albéniz" "autores" => array:2 [ 0 => array:2 [ "nombre" => "Francisco Javier" "apellidos" => "García-Martínez" ] 1 => array:2 [ "nombre" => "Angela" "apellidos" => "Estenaga Pérez de Albéniz" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020623001377?idApp=UINPBA00004N" "url" => "/23870206/0000016000000008/v1_202305031634/S2387020623001377/v1_202305031634/en/main.assets" ] "en" => array:15 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Letter to the Editor</span>" "titulo" => "Dopamine-secreting familial paraganglioma syndrome due to SDHB mutation" "tieneTextoCompleto" => true "saludo" => "Dear Editor:" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "368" "paginaFinal" => "370" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Ángel López Montalbán, Víctor José Simón Frapolli, María José Picón César" "autores" => array:3 [ 0 => array:4 [ "nombre" => "Ángel" "apellidos" => "López Montalbán" "email" => array:1 [ 0 => "angel.lopezmontalban1@gmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "Víctor José" "apellidos" => "Simón Frapolli" ] 2 => array:2 [ "nombre" => "María José" "apellidos" => "Picón César" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Unidad de Gestión Clínica de Endocrinología y Nutrición, Hospital Universitario Virgen de la Victoria, Campus Teatinos, Málaga, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Síndrome de paraganglioma familiar secretor de dopamina por mutación de SDHB" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 873 "Ancho" => 1408 "Tamanyo" => 105547 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0065" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(A) CT angiography of the supra-aortic trunks. A mass (arrows) corresponding to a giant 5<span class="elsevierStyleHsp" style=""></span>cm Shamblin class III right carotid paraganglioma can be observed. (B) Arteriography of bilateral external carotid artery. An intense and early pathological staining in relation to carotid glomus can be observed at the level of the bifurcation (*).</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Paragangliomas are endocrine tumours derived from chromaffin cells of the neural crest. Dopamine secretion is usually associated with worse prognosis and appears to be an independent risk factor for metastatic disease. In turn, its metabolite 3-methoxytyramine confers prognostic value and is related to tumour size. The literature describes germline genetic alterations or hereditary syndromes in 30–50% of patients with paragangliomas.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">We report the case of a 58-year-old woman with a personal history of primary hypothyroidism and arterial hypertension on treatment with doxazosin 8<span class="elsevierStyleHsp" style=""></span>mg daily visited the gynaecology outpatient clinic for pelvic discomfort in 2018. The gynaecological study included a transvaginal ultrasound, a pelvic MRI and an abdominal-pelvic CT, showing a possible lymphadenopathy suspicious of malignancy in the anterior region of the inferior vena cava of 3.2<span class="elsevierStyleHsp" style=""></span>cm in size. Surgical excision was decided, and the pathological diagnosis was retroperitoneal paraganglioma with no evidence of malignancy in the surgical specimen. After the initial surgery, the patient began annual follow-up with a biochemical study and localisation tests in the endocrinology department with the discovery of a new extra-adrenal lesion detected in the imaging tests. The control MIBG scintigraphy showed an asymmetrical distribution of the radioactive marker in the maxillary region, with a focal uptake at level IB-II/III on the right, cranial to the right submandibular gland. The CT scan showed a right cervical lateral mass in the right carotid bifurcation. Both studies showed images suggestive of right carotid paraganglioma or glomus.</p><p id="par0015" class="elsevierStylePara elsevierViewall">History-taking ruled out adrenergic symptoms, although she did have compressive symptoms, mainly discomfort due to mass effect. Physical examination: weight 104<span class="elsevierStyleHsp" style=""></span>kg, height 164<span class="elsevierStyleHsp" style=""></span>cm, BMI<span class="elsevierStyleHsp" style=""></span>38, blood pressure 154/77 (SMBP 140/150–70/80), heart rate<span class="elsevierStyleHsp" style=""></span>67. Examination of the right cervical region was painful on palpation and hard to the touch.</p><p id="par0020" class="elsevierStylePara elsevierViewall">Ancillary tests: normetanephrines 575.5<span class="elsevierStyleHsp" style=""></span>μg/24<span class="elsevierStyleHsp" style=""></span>h* (30–527), metanephrines 187.4<span class="elsevierStyleHsp" style=""></span>μg/24<span class="elsevierStyleHsp" style=""></span>h (20–302), methoxytyramine 8.260<span class="elsevierStyleHsp" style=""></span>μg/24<span class="elsevierStyleHsp" style=""></span>h* (103–434), norepinephrine 116.1<span class="elsevierStyleHsp" style=""></span>μg/24<span class="elsevierStyleHsp" style=""></span>h* (15–80), epinephrine 5.20<span class="elsevierStyleHsp" style=""></span>μg/24<span class="elsevierStyleHsp" style=""></span>h (0.50–20), dopamine 1,306.7<span class="elsevierStyleHsp" style=""></span>μg/24<span class="elsevierStyleHsp" style=""></span>h* (65–400), homovanillic acid 17.80<span class="elsevierStyleHsp" style=""></span>mg/24<span class="elsevierStyleHsp" style=""></span>h* (1.40–8.80).</p><p id="par0025" class="elsevierStylePara elsevierViewall">The genetic study confirmed that the mutation affected the SDHB gene in heterozygous form, c.166_170delCCTCAp.Pro56TyrfsTer5, following an autosomal dominant inheritance pattern, so genetic screening was performed on her descendants up to the third generation, with two of her three children and none of her grandchildren being asymptomatic carriers.</p><p id="par0030" class="elsevierStylePara elsevierViewall">Surgical intervention was performed after α- and β-adrenergic blockade and prior embolization of the external carotid-dependent feeding branches by interventional radiology. The preoperative imaging tests are shown in <a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>. Pathological examination of the surgical specimen: dopamine-secreting paraganglioma with immunoexpression of synaptophysin, CD56 and chromogranin.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0035" class="elsevierStylePara elsevierViewall">After surgery, dopamine levels, a marker of recurrence in this patient, returned to normal. Dopamine: 174 (NV up to 400). The patient is currently undergoing annual follow-up with biochemical determinations and imaging tests. In summary, the patient presented with metachronous multifocal dopamine-secreting paragangliomas with mutation in the SDHB gene. The paragangliomas were located in the retroperitoneal space, specifically in the inferior vena cava, as well as in the cervical region, at the submandibular level of the right carotid artery.</p><p id="par0040" class="elsevierStylePara elsevierViewall">Exclusive dopamine-secreting paragangliomas are extremely rare. Standard treatment is tumour resection, and although the need for preoperative α-blockade is unclear, its implementation is recommended.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">This clinical case allows us to summarise the current recommendations for hormone, genetic and localisation imaging tests. Familial paraganglioma syndrome (FPS) type<span class="elsevierStyleHsp" style=""></span>4 is caused by a mutation in the SDHB gene and is the second most common type. It usually results in catecholamine-producing sympathetic paraganglioma, most commonly dopamine and its metabolite 3-methoxytyramine. It is associated with a worse prognosis and a greater predisposition to malignancy (17–33%), showing multifocality in 20–25% of cases according to the literature. An association with renal carcinomas and GIST has been described.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a></p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Ethical considerations</span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Protection of people and animals</span><p id="par0050" class="elsevierStylePara elsevierViewall">The authors state that no experiments on humans or animals have been carried out for this research.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Confidentiality of data</span><p id="par0055" class="elsevierStylePara elsevierViewall">The authors declare that they have followed the protocols of their institution on the publication of patient data and that all patients included in the study have received sufficient information and have given their written informed consent to participate in the study.</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Right to privacy and informed consent</span><p id="par0060" class="elsevierStylePara elsevierViewall">The authors declare that no patient data appear in this article.</p></span></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Funding</span><p id="par0065" class="elsevierStylePara elsevierViewall">The authors declare that they have not received any funding for this study.</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Conflicts of interest</span><p id="par0070" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflicts of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:4 [ 0 => array:3 [ "identificador" => "sec0005" "titulo" => "Ethical considerations" "secciones" => array:3 [ 0 => array:2 [ "identificador" => "sec0010" "titulo" => "Protection of people and animals" ] 1 => array:2 [ "identificador" => "sec0015" "titulo" => "Confidentiality of data" ] 2 => array:2 [ "identificador" => "sec0020" "titulo" => "Right to privacy and informed consent" ] ] ] 1 => array:2 [ "identificador" => "sec0025" "titulo" => "Funding" ] 2 => array:2 [ "identificador" => "sec0030" "titulo" => "Conflicts of interest" ] 3 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "multimedia" => array:1 [ 0 => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 873 "Ancho" => 1408 "Tamanyo" => 105547 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0065" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(A) CT angiography of the supra-aortic trunks. A mass (arrows) corresponding to a giant 5<span class="elsevierStyleHsp" style=""></span>cm Shamblin class III right carotid paraganglioma can be observed. (B) Arteriography of bilateral external carotid artery. An intense and early pathological staining in relation to carotid glomus can be observed at the level of the bifurcation (*).</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:4 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Genetic stratification of inherited and sporadic phaeochromocytoma and paraganglioma: implications for precision medicine" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "R. Casey" 1 => "H.P.H. Neumann" 2 => "E.R. Maher" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1093/hmg/ddaa201" "Revista" => array:6 [ "tituloSerie" => "Hum Mol Genet" "fecha" => "2020" "volumen" => "29" "paginaInicial" => "R128" "paginaFinal" => "R137" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/33059362" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Pheochromocytoma and paraganglioma" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "H.P.H. Neumann" 1 => "W.F. Young" 2 => "C. 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Shin" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:3 [ "tituloSerie" => "J Endocr Soc" "fecha" => "2021" "volumen" => "5" ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0020" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Clinical manifestations of paraganglioma syndromes types 1-5" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "D.E. Benn" 1 => "B.G. Robinson" 2 => "R.J. 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