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Villegas-Romero, M. Domínguez-Gómez, M. Linares-Barrios" "autores" => array:3 [ 0 => array:4 [ "nombre" => "I." "apellidos" => "Villegas-Romero" "email" => array:1 [ 0 => "imvr91@gmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "*" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "M." "apellidos" => "Domínguez-Gómez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "M." "apellidos" => "Linares-Barrios" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Unidad de Gestión Clínica de Dermatología Médico-Quirúrgica y Venereología, Hospital Universitario Puerta del Mar, Cádiz, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicio de Anatomía Patológica, Hospital Universitario Puerta del Mar, Cádiz, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Sospecha tras la herencia" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0015" "etiqueta" => "Figure 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 750 "Ancho" => 750 "Tamanyo" => 52427 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0015" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Magnetic resonance imaging of the brain of one of the patient’s daughters showing a popcorn-like image compatible with cerebral cavernous malformation.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Medical History</span><p id="par0005" class="elsevierStylePara elsevierViewall">A 69-year-old man presented for evaluation of skin lesions on the chest that had appeared several years earlier and had grown progressively. He had no medical history of interest. His family history included a daughter who had experienced a spontaneous brain hemorrhage and another daughter with venous malformations of the spine.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Physical Examination</span><p id="par0010" class="elsevierStylePara elsevierViewall">Examination revealed grouped violaceous papules on the presternal region and the face, including the lips and oral mucosa (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). Deeper, larger lesions were also observed on the arms.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Histopathology</span><p id="par0015" class="elsevierStylePara elsevierViewall">A skin biopsy showed dilated vascular lumina and negative WT-1 and D2-40 staining, findings compatible with a venous malformation (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>).</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Additional Tests</span><p id="par0020" class="elsevierStylePara elsevierViewall">A genetic study revealed a heterozygous pathogenic variant of the <span class="elsevierStyleItalic">KRIT1</span> gene in the patient and 4 of his children. Magnetic resonance imaging (MRI) showed cerebral venous malformations in one of the patient’s daughters (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>). None of the remaining family members who carried the mutation showed any vascular alterations of the central nervous system (CNS).</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">What is Your Diagnosis?</span><p id="par0025" class="elsevierStylePara elsevierViewall">Diagnosis: Cerebral cavernous malformation (CCM).</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Discussion</span><p id="par0030" class="elsevierStylePara elsevierViewall">CCM presents with venous malformations that tend to mainly affect the brain, but can also affect the skin, spinal cord, and retina. CCM most commonly affects the CNS, causing neurological signs including seizures, focal neurological deficits, and cerebral hemorrhage in the most severe cases.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> Histologically it is characterized by the formation of enlarged and irregular vascular lumina that are composed of a single layer of endothelial cells and lack other supporting structures, such as elastic fibers and smooth muscle, making them more prone to leakage and disrupting the blood–brain barrier. CCM can occur sporadically or can be inherited in an autosomal dominant manner, with variable expression and incomplete clinical and radiological penetrance.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> Genetic analysis of this condition is positive in 70% of cases, revealing mutations that cause loss of function of a protein encoded at 3 different loci, in the following order of frequency: <span class="elsevierStyleItalic">CCM1</span>/<span class="elsevierStyleItalic">KRIT1</span> (7q11-q22); <span class="elsevierStyleItalic">CCM2</span>/Malcaverin (7p13-15); and <span class="elsevierStyleItalic">CCM3</span>/<span class="elsevierStyleItalic">PDCD10</span> (3q25.2q27).<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">Screening for nervous system involvement is performed using gradient echo MRI. MRI reveals a characteristic popcorn-like appearance, consisting of a well-delimited reticulated nucleus, heterogeneous signal due to bleeding at different stages, and a hypointense hemosiderin ring.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> To date, surgery is the only described treatment, and is indicated for single, symptomatic lesions in specific locations, but not for multiple or asymptomatic lesions, with certain exceptions.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> Long-term use of statins is being studied in a clinical trial, for which data are not yet available.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">We describe a case in which the presence of cutaneous venous malformations in multiple individuals in the same family was crucial for early diagnosis and treatment of this disease.</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Conflicts of Interest</span><p id="par0045" class="elsevierStylePara elsevierViewall">The authors declare no conflicts of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:8 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Medical History" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Physical Examination" ] 2 => array:2 [ "identificador" => "sec0015" "titulo" => "Histopathology" ] 3 => array:2 [ "identificador" => "sec0020" "titulo" => "Additional Tests" ] 4 => array:2 [ "identificador" => "sec0025" "titulo" => "What is Your Diagnosis?" ] 5 => array:2 [ "identificador" => "sec0030" "titulo" => "Discussion" ] 6 => array:2 [ "identificador" => "sec0035" "titulo" => "Conflicts of Interest" ] 7 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Villegas-Romero I, Domínguez-Gómez M, Linares-Barrios M. Sospecha tras la herencia. Actas Dermosifiliogr. 2021;112:911–912.</p>" ] ] "multimedia" => array:3 [ 0 => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 645 "Ancho" => 750 "Tamanyo" => 84132 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Clinical image of venous malformations in the oral mucosa, perioral skin, and presternal area.</p>" ] ] 1 => array:8 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 813 "Ancho" => 947 "Tamanyo" => 222394 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0010" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Histological images showing (A) thin-walled vascular lumina (hematoxylin–eosin staining) and (B) negative staining for D2-40 and WT-1.</p>" ] ] 2 => array:8 [ "identificador" => "fig0015" "etiqueta" => "Figure 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 750 "Ancho" => 750 "Tamanyo" => 52427 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0015" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Magnetic resonance imaging of the brain of one of the patient’s daughters showing a popcorn-like image compatible with cerebral cavernous malformation.</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" => "International Society for the Study of Vascular Anomalies" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "ISSVA Classification of Vascular Anomalies" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Libro" => array:1 [ "fecha" => "2018" ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Genetics of cavernous angiomas" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "P. 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Year/Month | Html | Total | |
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2024 November | 5 | 2 | 7 |
2024 October | 67 | 32 | 99 |
2024 September | 71 | 26 | 97 |
2024 August | 81 | 64 | 145 |
2024 July | 60 | 25 | 85 |
2024 June | 59 | 34 | 93 |
2024 May | 59 | 34 | 93 |
2024 April | 52 | 22 | 74 |
2024 March | 66 | 29 | 95 |
2024 February | 52 | 29 | 81 |
2024 January | 53 | 43 | 96 |
2023 December | 41 | 13 | 54 |
2023 November | 52 | 37 | 89 |
2023 October | 47 | 22 | 69 |
2023 September | 41 | 30 | 71 |
2023 August | 34 | 14 | 48 |
2023 July | 35 | 31 | 66 |
2023 June | 40 | 16 | 56 |
2023 May | 40 | 20 | 60 |
2023 April | 30 | 20 | 50 |
2023 March | 50 | 32 | 82 |
2023 February | 36 | 25 | 61 |
2023 January | 28 | 27 | 55 |
2022 December | 59 | 44 | 103 |
2022 November | 38 | 28 | 66 |
2022 October | 30 | 23 | 53 |
2022 September | 25 | 36 | 61 |
2022 August | 24 | 38 | 62 |
2022 July | 34 | 36 | 70 |
2022 June | 27 | 35 | 62 |
2022 May | 48 | 45 | 93 |
2022 April | 64 | 55 | 119 |
2022 March | 57 | 67 | 124 |
2022 February | 61 | 31 | 92 |
2022 January | 56 | 48 | 104 |
2021 December | 56 | 49 | 105 |
2021 November | 69 | 44 | 113 |
2021 October | 75 | 89 | 164 |