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array:24 [ "pii" => "S1578219013001790" "issn" => "15782190" "doi" => "10.1016/j.adengl.2012.04.025" "estado" => "S300" "fechaPublicacion" => "2013-10-01" "aid" => "645" "copyright" => "Elsevier España, S.L. and AEDV" "copyrightAnyo" => "2011" "documento" => "simple-article" "crossmark" => 0 "subdocumento" => "crp" "cita" => "Actas Dermosifiliogr. 2013;104:710-3" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 4295 "formatos" => array:3 [ "EPUB" => 54 "HTML" => 3151 "PDF" => 1090 ] ] "Traduccion" => array:1 [ "es" => array:19 [ "pii" => "S0001731012002293" "issn" => "00017310" "doi" => "10.1016/j.ad.2012.04.010" "estado" => "S300" "fechaPublicacion" => "2013-10-01" "aid" => "645" "copyright" => "Elsevier España, S.L. and AEDV" "documento" => "article" "crossmark" => 0 "subdocumento" => "sco" "cita" => "Actas Dermosifiliogr. 2013;104:710-3" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 6315 "formatos" => array:3 [ "EPUB" => 2 "HTML" => 4275 "PDF" => 2038 ] ] "es" => array:13 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Caso clínico</span>" "titulo" => "Síndrome malformaciones capilares-malformaciones arteriovenosas: presentación de 2 casos, claves diagnósticas y manejo" "tienePdf" => "es" "tieneTextoCompleto" => "es" "tieneResumen" => array:2 [ 0 => "es" 1 => "en" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "710" "paginaFinal" => "713" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Capillary Malformation-Arteriovenous Malformation Syndrome: A Report of 2 Cases, Diagnostic Criteria, and Management" ] ] "contieneResumen" => array:2 [ "es" => true "en" => true ] "contieneTextoCompleto" => array:1 [ "es" => true ] "contienePdf" => array:1 [ "es" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figura 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1627 "Ancho" => 2490 "Tamanyo" => 204588 ] ] "descripcion" => array:1 [ "es" => "<p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Características clínicas de la familia 2. Paciente de 18 meses con malformación capilar en la mejilla derecha (a), además presentaba otras malformaciones capilares más pequeñas de distribución aleatoria (b). Su hermana mayor presentaba varias malformaciones capilares pequeñas y poco aparentes (c y d). El primo de la paciente presentaba varias malformaciones capilares de gran tamaño (e y f) y el padre de la niña tenía una malformación arteriovenosa en la extremidad inferior derecha (g).</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "A. Català, E. Roé, M. Vikkula, E. Baselga" "autores" => array:4 [ 0 => array:2 [ "nombre" => "A." "apellidos" => "Català" ] 1 => array:2 [ "nombre" => "E." "apellidos" => "Roé" ] 2 => array:2 [ "nombre" => "M." "apellidos" => "Vikkula" ] 3 => array:2 [ "nombre" => "E." "apellidos" => "Baselga" ] ] ] ] ] "idiomaDefecto" => "es" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S1578219013001790" "doi" => "10.1016/j.adengl.2012.04.025" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1578219013001790?idApp=UINPBA000044" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0001731012002293?idApp=UINPBA000044" "url" => "/00017310/0000010400000008/v1_201309240051/S0001731012002293/v1_201309240051/es/main.assets" ] ] "itemSiguiente" => array:19 [ "pii" => "S1578219013001807" "issn" => "15782190" "doi" => "10.1016/j.adengl.2013.02.009" "estado" => "S300" "fechaPublicacion" => "2013-10-01" "aid" => "829" "copyright" => "Elsevier España, S.L. and AEDV" "documento" => "simple-article" "crossmark" => 0 "subdocumento" => "cor" "cita" => "Actas Dermosifiliogr. 2013;104:715-6" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 1768 "formatos" => array:3 [ "EPUB" => 47 "HTML" => 1352 "PDF" => 369 ] ] "en" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Case for Diagnosis</span>" "titulo" => "Slow-growing Scaly Erythematous Plaque on the Face and Scalp of an Elderly Woman" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "715" "paginaFinal" => "716" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Placa eritematodescamativa de lento crecimiento en la cara y el cuero cabelludo de una mujer anciana" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0015" "etiqueta" => "Figure 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 450 "Ancho" => 600 "Tamanyo" => 108432 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Hematoxylin-eosin, ×400.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Y. Torres Garcia, B. Escutia Muñoz, R. Botella Estrada" "autores" => array:3 [ 0 => array:2 [ "nombre" => "Y." "apellidos" => "Torres Garcia" ] 1 => array:2 [ "nombre" => "B." "apellidos" => "Escutia Muñoz" ] 2 => array:2 [ "nombre" => "R." 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Consideraciones de eficacia y selección del tratamiento" ] ] "contieneResumen" => array:2 [ "en" => true "es" => true ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1670 "Ancho" => 2253 "Tamanyo" => 152406 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Random-effects model showing pairwise comparisons of PASI 75 response rates to biologic agents. The diamonds represent the odds ratios and the horizontal lines the 95% CIs. PASI 75 indicates a 75% reduction in Psoriasis Area and Severity Index score over baseline.</p> <p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Adapted from Lin et al.<a class="elsevierStyleCrossRef" href="#bib0150"><span class="elsevierStyleSup">30</span></a></p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "L. Puig, J.M. Carrascosa, G. Carretero, P. de la Cueva, R.F. Lafuente-Urrez, I. Belinchón, M. Sánchez-Regaña, M. García-Bustínduy, M. Ribera, M. Alsina, C. Ferrándiz, E. Fonseca, V. García-Patos, E. Herrera, J.L. López-Estebaranz, S.E. Marrón, J.C. Moreno, J. Notario, R. Rivera, C. Rodriguez-Cerdeira, A. Romero, R. Ruiz-Villaverde, R. Taberner, D. Vidal" "autores" => array:25 [ 0 => array:2 [ "nombre" => "L." "apellidos" => "Puig" ] 1 => array:2 [ "nombre" => "J.M." "apellidos" => "Carrascosa" ] 2 => array:2 [ "nombre" => "G." "apellidos" => "Carretero" ] 3 => array:2 [ "nombre" => "P." "apellidos" => "de la Cueva" ] 4 => array:2 [ "nombre" => "R.F." "apellidos" => "Lafuente-Urrez" ] 5 => array:2 [ "nombre" => "I." "apellidos" => "Belinchón" ] 6 => array:2 [ "nombre" => "M." "apellidos" => "Sánchez-Regaña" ] 7 => array:2 [ "nombre" => "M." "apellidos" => "García-Bustínduy" ] 8 => array:2 [ "nombre" => "M." "apellidos" => "Ribera" ] 9 => array:2 [ "nombre" => "M." "apellidos" => "Alsina" ] 10 => array:2 [ "nombre" => "C." "apellidos" => "Ferrándiz" ] 11 => array:2 [ "nombre" => "E." "apellidos" => "Fonseca" ] 12 => array:2 [ "nombre" => "V." "apellidos" => "García-Patos" ] 13 => array:2 [ "nombre" => "E." "apellidos" => "Herrera" ] 14 => array:2 [ "nombre" => "J.L." "apellidos" => "López-Estebaranz" ] 15 => array:2 [ "nombre" => "S.E." "apellidos" => "Marrón" ] 16 => array:2 [ "nombre" => "J.C." "apellidos" => "Moreno" ] 17 => array:2 [ "nombre" => "J." "apellidos" => "Notario" ] 18 => array:2 [ "nombre" => "R." "apellidos" => "Rivera" ] 19 => array:2 [ "nombre" => "C." "apellidos" => "Rodriguez-Cerdeira" ] 20 => array:2 [ "nombre" => "A." "apellidos" => "Romero" ] 21 => array:2 [ "nombre" => "R." "apellidos" => "Ruiz-Villaverde" ] 22 => array:2 [ "nombre" => "R." "apellidos" => "Taberner" ] 23 => array:2 [ "nombre" => "D." "apellidos" => "Vidal" ] 24 => array:1 [ "colaborador" => "for the Spanish Psoriasis Group of the Spanish Academy of Dermatology and Venereology" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1578219013001789?idApp=UINPBA000044" "url" => "/15782190/0000010400000008/v1_201309240048/S1578219013001789/v1_201309240048/en/main.assets" ] "en" => array:19 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Case Report</span>" "titulo" => "Capillary Malformation-Arteriovenous Malformation Syndrome: A Report of 2 Cases, Diagnostic Criteria, and Management" "tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "710" "paginaFinal" => "713" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "A. Català, E. Roé, M. Vikkula, E. Baselga" "autores" => array:4 [ 0 => array:4 [ "nombre" => "A." "apellidos" => "Català" "email" => array:1 [ 0 => "acatala@santpau.cat" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">¿</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "E." "apellidos" => "Roé" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "M." "apellidos" => "Vikkula" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 3 => array:3 [ "nombre" => "E." "apellidos" => "Baselga" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Servicio de Dermatología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology, Cliniques Universitaires Saint-Luc, Brussels, Belgium" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Síndrome malformaciones capilares-malformaciones arteriovenosas: presentación de 2 casos, claves diagnósticas y manejo" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1632 "Ancho" => 2468 "Tamanyo" => 227848 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Clinical characteristics of family 1. A, Arteriovenous malformation on the left upper limb of a 4-year-old girl. B-E, Multiple atypical capillary malformations detected on the upper and lower limbs. F and G, Large capillary malformations on the right breast (F) and on the right thigh and buttock (G) of the patient's mother.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is an autosomal dominant disorder that was first described in 2003. It is caused by heterozygous mutations that deactivate the <span class="elsevierStyleItalic">RASA1</span> gene, which encodes the protein p120Gap.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> The main characteristic of CM-AVM syndrome is the presence of atypical, multifocal capillary malformations associated with high-flow vascular malformations both in the affected individual and in other family members.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Case Descriptions</span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Patient 1</span><p id="par0010" class="elsevierStylePara elsevierViewall">A 4-year-old girl was referred to our department for treatment of a vascular lesion on the left upper limb. She presented a pink macule measuring 17<span class="elsevierStyleHsp" style=""></span>×<span class="elsevierStyleHsp" style=""></span>8<span class="elsevierStyleHsp" style=""></span>cm that had geographic borders and superficial telangiectasias and was located on the dorsolateral aspect of the left forearm (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>A). The lesion was pulsatile and warm to the touch. The patient reported paresthesia and pain in the lesion. Magnetic resonance imaging and arteriography of the left forearm confirmed the clinical impression of an arteriovenous malformation. Physical examination revealed several smaller capillary malformations, ranging in size from 1<span class="elsevierStyleHsp" style=""></span>cm to 1.5<span class="elsevierStyleHsp" style=""></span>cm, surrounded by whitish peripheral halos and distributed randomly over the body (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>, B-E). The patient's mother had a capillary malformation measuring 20<span class="elsevierStyleHsp" style=""></span>×<span class="elsevierStyleHsp" style=""></span>5<span class="elsevierStyleHsp" style=""></span>cm on the right breast and another measuring 10<span class="elsevierStyleHsp" style=""></span>×<span class="elsevierStyleHsp" style=""></span>4.5<span class="elsevierStyleHsp" style=""></span>cm on the buttocks (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>, F and G), and a female cousin of the mother had an intracranial arteriovenous malformation. Cerebral magnetic resonance imaging of the patient was normal.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Patient 2</span><p id="par0015" class="elsevierStylePara elsevierViewall">An 18-month-old girl presented a capillary malformation measuring 4<span class="elsevierStyleHsp" style=""></span>×<span class="elsevierStyleHsp" style=""></span>1.5<span class="elsevierStyleHsp" style=""></span>cm on the right cheek and bridge of the nose (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>A). Physical examination revealed a further 3 smaller capillary malformations elsewhere on the body, ranging in size from 1<span class="elsevierStyleHsp" style=""></span>cm to 1.5<span class="elsevierStyleHsp" style=""></span>cm and surrounded by whitish peripheral halos (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>B). The patient's older sister had several capillary malformations, ranging in size from 0.5 to 1.5<span class="elsevierStyleHsp" style=""></span>cm, located on the nose, upper limb and lower limb and surrounded by whitish peripheral halos (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>, C and D). A male paternal cousin of the patient had a capillary malformation measuring 7<span class="elsevierStyleHsp" style=""></span>×<span class="elsevierStyleHsp" style=""></span>4<span class="elsevierStyleHsp" style=""></span>cm on the left thigh and another measuring 13<span class="elsevierStyleHsp" style=""></span>×<span class="elsevierStyleHsp" style=""></span>5<span class="elsevierStyleHsp" style=""></span>cm on the right forearm (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>, E and F). The patient's father had an arteriovenous malformation on the right lower limb (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>G) and her paternal grandmother had an arteriovenous malformation on her right forearm. Familial CM-AVM syndrome was suspected. The patient underwent cerebral magnetic resonance imaging and angiography, which revealed the presence of an arteriovenous fistula in the territory of the middle cerebral artery. Because the lesion was associated with a high risk of bleeding, selective embolization of the arteriovenous fistula was performed even though the patient had no symptoms. The patient remains asymptomatic after more than 4 years of follow-up.</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia></span></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Genetic Testing</span><p id="par0020" class="elsevierStylePara elsevierViewall">Blood samples were collected from all affected family members and sent to Prof. Miikka Vikkula and Dr. Nicole Revencu of the Laboratory of Human Molecular Genetics (Christian de Duve Institute of Cellular Pathology, Université Catholique de Louvain, Brussels, Belgium) for genetic testing. All affected family members were positive for mutations in the <span class="elsevierStyleItalic">RASA1</span> gene.</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Discussion</span><p id="par0025" class="elsevierStylePara elsevierViewall">Capillary malformations, or port-wine stains, are the most common vascular malformations, occurring in 0.3% of newborns.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> These low-flow vascular lesions present as pale pink, erythematous, or violaceous macules. Capillary malformations are usually unilateral but can affect any part of the body. Unlike other macular lesions that appear on the face and fade over time (nevus flammeus neonatorum, also known as salmon patch or <span class="elsevierStyleItalic">angel's kiss</span>), capillary malformations tend to darken with age.</p><p id="par0030" class="elsevierStylePara elsevierViewall">Most capillary malformations occur sporadically and present as solitary lesions. However, since the first description of cases of multiple familial capillary malformations by Shelley and Livingood<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> in 1949, numerous authors have suggested that this type of capillary malformation follows a pattern of autosomal dominant inheritance with variable expression.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> Following these observations, CM-AVM syndrome was first described in 2003 as being the result of a heterozygous mutation in chromosome band 5q13.3,<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,2</span></a> specifically in the <span class="elsevierStyleItalic">RASA1</span> gene.<a class="elsevierStyleCrossRefs" href="#bib0030"><span class="elsevierStyleSup">6,7</span></a> This gene encodes the protein p120Gap, an inhibitor of the Ras pathway, which is involved in cell growth, differentiation, and proliferation.<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">8,9</span></a> Atypical capillary malformations—the main feature of CM-AVM syndrome—are present in 100% of families with the mutation.<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">10–12</span></a> The capillary malformations associated with this syndrome are characterized by an erythematous brownish color, multifocality, random distribution, the presence of a whitish peripheral halo around the lesions, and an increase in local temperature. The malformations may be present at birth, but they usually appear in early childhood. The size of the lesions ranges from 1<span class="elsevierStyleHsp" style=""></span>cm to more than 15<span class="elsevierStyleHsp" style=""></span>cm. Atypical capillary malformations indicate greater susceptibility to high-flow vascular anomalies (arteriovenous malformations or arteriovenous fistulas); a high-flow vascular malformation has been found in at least 1 member of all the families with this mutation that have been studied to date.<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">10–12</span></a> The high-flow malformations associated with CM-AVM syndrome can affect skin, muscle, bone, the intracranial region, or the spinal region.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">13</span></a> One study found that up to 18% of patients with the <span class="elsevierStyleItalic">RASA1</span> gene mutation have an associated arteriovenous malformation or fistula (intracranial in 7.1% of cases and extracranial in 11.4% of cases).<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a> It is also possible that some reported cases of Cobb syndrome (an arteriovenous malformation of the spinal cord associated with a capillary malformation along the involved dermatome) are, in fact, cases of CM-AVM syndrome.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">14</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">It is therefore the multifocal nature of a patient's capillary malformations that should raise suspicion of CM-AVM syndrome and prompt the physician to investigate the existence of potential internal arteriovenous malformations before they cause symptoms. In the case of high-flow cerebral or spinal vascular lesions, detection is of the utmost importance because the first manifestation of such lesions can be hemorrhage, leading to serious consequences.<a class="elsevierStyleCrossRefs" href="#bib0065"><span class="elsevierStyleSup">13,14</span></a> A recent study found that in 43% of cases of children with intracranial hemorrhage secondary to arteriovenous malformation, atypical capillary malformations were present in the patient or a first-degree relative.<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">15</span></a> In the case of our second patient, we detected an arteriovenous fistula in the territory of the middle cerebral artery that might otherwise have first manifested as spontaneous bleeding.</p><p id="par0040" class="elsevierStylePara elsevierViewall">It should be noted that a nonnegligible percentage (21%) of the patients with multifocal capillary malformations (associated or not with high-flow arteriovenous malformations) who have been tested by Prof. Vikkula are negative for the mutation of the <span class="elsevierStyleItalic">RASA1</span> gene.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a> However, most of those cases were sporadic (10/12) and only 2 families have been studied. Patients with multifocal capillary malformations who are negative for the mutation probably have a yet unknown mutation of the <span class="elsevierStyleItalic">RASA1</span> gene, because they and their family members also have a higher risk of high-flow arteriovenous malformations (present in up to 25% of cases). It is therefore recommended that these patients and their family members undergo screening for high-flow lesions. Genetic testing should be performed if possible because it can help to establish a genotype-phenotype correlation. It is not essential, however, because screening for associated arteriovenous malformations is justified in these patients regardless of the results of genetic testing.</p><p id="par0045" class="elsevierStylePara elsevierViewall">In conclusion, the results of the aforementioned studies suggest that an exhaustive medical history should be taken for any patient with atypical capillary malformations and that the patient and his or her family members should undergo a full physical examination so that any atypical capillary malformations or high-flow vascular lesions that suggest an autosomal dominant pattern of inheritance can be detected. If the phenotype with capillary and arteriovenous malformations is found, the patient with the atypical capillary malformations and his or her family members should undergo magnetic resonance imaging and angiography to screen for subclinical high-flow intracranial and spinal vascular lesions. This approach can make it possible to anticipate cerebral and spinal hemorrhages, which could have fatal consequences for these families. The patients described in this article did not undergo cerebrospinal magnetic resonance imaging because the article that described the association between multiple capillary malformations and spinal arteriovenous malformations was published in 2010, several years after the patients were treated in our department.</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Conflicts of Interest</span><p id="par0050" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflicts of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:11 [ 0 => array:2 [ "identificador" => "xres276218" "titulo" => "Abstract" ] 1 => array:2 [ "identificador" => "xpalclavsec258193" "titulo" => "Keywords" ] 2 => array:2 [ "identificador" => "xres276219" "titulo" => "Resumen" ] 3 => array:2 [ "identificador" => "xpalclavsec258194" "titulo" => "Palabras clave" ] 4 => array:2 [ "identificador" => "sec0005" "titulo" => "Introduction" ] 5 => array:3 [ "identificador" => "sec0010" "titulo" => "Case Descriptions" "secciones" => array:2 [ 0 => array:2 [ "identificador" => "sec0015" "titulo" => "Patient 1" ] 1 => array:2 [ "identificador" => "sec0020" "titulo" => "Patient 2" ] ] ] 6 => array:2 [ "identificador" => "sec0025" "titulo" => "Genetic Testing" ] 7 => array:2 [ "identificador" => "sec0030" "titulo" => "Discussion" ] 8 => array:2 [ "identificador" => "sec0035" "titulo" => "Conflicts of Interest" ] 9 => array:2 [ "identificador" => "xack63544" "titulo" => "Acknowledgments" ] 10 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec258193" "palabras" => array:7 [ 0 => "Malformation" 1 => "Capillary" 2 => "Arteriovenous" 3 => "Fistula" 4 => "<span class="elsevierStyleItalic">RASA1</span>" 5 => "RASp21" 6 => "p120RasGAP" ] ] ] "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec258194" "palabras" => array:7 [ 0 => "Malformación" 1 => "Capilar" 2 => "Arteriovenosa" 3 => "Fístula" 4 => "RASA1" 5 => "RASp21" 6 => "p120RasGAP" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Capillary malformation-arteriovenous malformation syndrome is a rare type of vascular malformation first described in 2003. It is an autosomal dominant inherited disorder that has been reported in association with heterozygous mutations in the <span class="elsevierStyleItalic">RASA1</span> gene, which encodes the protein RASp21. The clinical picture is characterized by multiple small capillary malformations which are associated with either arteriovenous malformations or arteriovenous fistulas in both the affected individual and other members of their family. We describe 2 new familial cases of this syndrome that were clinically and genetically diagnosed and studied in our hospital.</p>" ] "es" => array:2 [ "titulo" => "Resumen" "resumen" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">El síndrome malformaciones capilares-malformaciones arteriovenosas es un tipo de malformación vascular poco frecuente que se describió en 2003. Se hereda de forma autosómica dominante, y se ha objetivado que está causado por mutaciones heterocigotas en el gen RASA1, que codifica la proteína RASp21. Dicho síndrome se caracteriza por malformaciones capilares pequeñas y múltiples que se asocian con malformaciones arteriovenosas o fístulas arteriovenosas, tanto en los individuos afectos como en sus familias. Describimos aquí 2 nuevos casos familiares de este síndrome que hemos diagnosticado y estudiado en nuestro centro, tanto desde el punto de vista clínico como genético.</p>" ] ] "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Català A, et al. Síndrome malformaciones capilares-malformaciones arteriovenosas: presentación de 2 casos, claves diagnósticas y manejo. Actas Dermosifiliogr. 2013;104:710–3.</p>" ] ] "multimedia" => array:2 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1632 "Ancho" => 2468 "Tamanyo" => 227848 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Clinical characteristics of family 1. A, Arteriovenous malformation on the left upper limb of a 4-year-old girl. B-E, Multiple atypical capillary malformations detected on the upper and lower limbs. F and G, Large capillary malformations on the right breast (F) and on the right thigh and buttock (G) of the patient's mother.</p>" ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1627 "Ancho" => 2490 "Tamanyo" => 198845 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Clinical characteristics of family 2. A, Capillary malformation on the right cheek of patient 2, an 18-month-old girl. B, Smaller capillary malformations distributed randomly over the body of the same patient. C and D, Several smaller, less apparent capillary malformations on the patient's older sister. E and F, Large capillary malformations on a male cousin of the patient. G, Arteriovenous malformation on the right lower limb of the patient's father.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:15 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Capillary malformation-arteriovenous malformation: a new clinical and genetic disorder caused by RASA1 mutations" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "I. Eerola" 1 => "L.M. Boon" 2 => "J.B. Mulliken" 3 => "P.E. Burrows" 4 => "A. Dompmartin" 5 => "S. 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Torrelo" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:7 [ "tituloSerie" => "Actas Dermosifiliogr" "fecha" => "2011" "volumen" => "102" "paginaInicial" => "402" "paginaFinal" => "416" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/21944771" "web" => "Medline" ] ] "itemHostRev" => array:3 [ "pii" => "S0140673606684407" "estado" => "S300" "issn" => "01406736" ] ] ] ] ] ] ] 9 => array:3 [ "identificador" => "bib0050" "etiqueta" => "10" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "N. Revencu" 1 => "L.M. Boon" 2 => "J.B. Mulliken" 3 => "O. Enjolras" 4 => "M.R. Cordisco" 5 => "P.E. 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Cordisco" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.3174/ajnr.A1907" "Revista" => array:6 [ "tituloSerie" => "Am J Neuroradiol" "fecha" => "2010" "volumen" => "31" "paginaInicial" => "775" "paginaFinal" => "779" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/20007727" "web" => "Medline" ] ] ] ] ] ] ] ] 14 => array:3 [ "identificador" => "bib0075" "etiqueta" => "15" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The potential of capillary birthmarks as a significant marker for capillary malformation-arteriovenous malformation syndrome in children who had nontraumatic cerebral hemorrhage" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "D. Chee" 1 => "R. Phillips" 2 => "W. Maixner" 3 => "B.R. Southwell" 4 => "J.M. Huston" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "J Ped Surg" "fecha" => "2010" "volumen" => "45" "paginaInicial" => "2419" "paginaFinal" => "2422" ] ] ] ] ] ] ] ] ] ] "agradecimientos" => array:1 [ 0 => array:4 [ "identificador" => "xack63544" "titulo" => "Acknowledgments" "texto" => "<p id="par0055" class="elsevierStylePara elsevierViewall">The authors thank the patients and their families for their collaboration. We also wish to thank Prof. Vikkula for performing the genetic tests that made it possible to detect the mutation of the <span class="elsevierStyleItalic">RASA1</span> gene in the affected families.</p>" "vista" => "all" ] ] ] "idiomaDefecto" => "en" "url" => "/15782190/0000010400000008/v1_201309240048/S1578219013001790/v1_201309240048/en/main.assets" "Apartado" => array:4 [ "identificador" => "6156" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Case Report" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/15782190/0000010400000008/v1_201309240048/S1578219013001790/v1_201309240048/en/main.pdf?idApp=UINPBA000044&text.app=https://actasdermo.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1578219013001790?idApp=UINPBA000044" ]
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2022 July | 53 | 42 | 95 |
2022 June | 73 | 51 | 124 |
2022 May | 103 | 49 | 152 |
2022 April | 107 | 56 | 163 |
2022 March | 105 | 77 | 182 |
2022 February | 139 | 48 | 187 |
2022 January | 170 | 61 | 231 |
2021 December | 102 | 60 | 162 |
2021 November | 85 | 63 | 148 |
2021 October | 93 | 76 | 169 |
2021 September | 131 | 57 | 188 |
2021 August | 114 | 45 | 159 |
2021 July | 94 | 57 | 151 |
2021 June | 101 | 44 | 145 |
2021 May | 85 | 52 | 137 |
2021 April | 200 | 82 | 282 |
2021 March | 154 | 40 | 194 |
2021 February | 87 | 37 | 124 |
2021 January | 82 | 23 | 105 |
2020 December | 83 | 21 | 104 |
2020 November | 52 | 24 | 76 |
2020 October | 57 | 15 | 72 |
2020 September | 73 | 22 | 95 |
2020 August | 75 | 21 | 96 |
2020 July | 43 | 18 | 61 |
2020 June | 51 | 24 | 75 |
2020 May | 40 | 19 | 59 |
2020 April | 47 | 24 | 71 |
2020 March | 40 | 26 | 66 |
2020 February | 5 | 4 | 9 |
2020 January | 3 | 11 | 14 |
2019 December | 8 | 11 | 19 |
2019 November | 4 | 9 | 13 |
2019 October | 0 | 9 | 9 |
2019 September | 8 | 15 | 23 |
2019 August | 4 | 13 | 17 |
2019 July | 4 | 16 | 20 |
2019 June | 4 | 30 | 34 |
2019 May | 6 | 103 | 109 |
2019 April | 2 | 26 | 28 |
2019 March | 2 | 12 | 14 |
2019 February | 6 | 7 | 13 |
2019 January | 0 | 6 | 6 |
2018 December | 2 | 10 | 12 |
2018 November | 4 | 3 | 7 |
2018 October | 3 | 0 | 3 |
2018 September | 5 | 2 | 7 |
2018 August | 0 | 7 | 7 |
2018 July | 0 | 12 | 12 |
2018 June | 0 | 8 | 8 |
2018 May | 0 | 4 | 4 |
2018 April | 0 | 3 | 3 |
2018 March | 3 | 16 | 19 |
2018 February | 93 | 21 | 114 |
2018 January | 102 | 18 | 120 |
2017 December | 84 | 11 | 95 |
2017 November | 94 | 22 | 116 |
2017 October | 98 | 26 | 124 |
2017 September | 54 | 21 | 75 |
2017 August | 75 | 21 | 96 |
2017 July | 81 | 22 | 103 |
2017 June | 81 | 41 | 122 |
2017 May | 43 | 22 | 65 |
2017 April | 40 | 31 | 71 |
2017 March | 36 | 30 | 66 |
2017 February | 114 | 31 | 145 |
2017 January | 61 | 22 | 83 |
2016 December | 107 | 19 | 126 |
2016 November | 160 | 30 | 190 |
2016 October | 142 | 48 | 190 |
2016 September | 216 | 27 | 243 |
2016 August | 183 | 17 | 200 |
2016 July | 72 | 15 | 87 |
2016 June | 11 | 17 | 28 |
2016 May | 5 | 17 | 22 |
2016 April | 3 | 2 | 5 |
2016 March | 5 | 7 | 12 |
2016 February | 7 | 20 | 27 |
2016 January | 4 | 23 | 27 |
2015 December | 20 | 3 | 23 |
2015 November | 9 | 2 | 11 |
2015 October | 6 | 1 | 7 |
2015 September | 12 | 3 | 15 |
2015 August | 13 | 5 | 18 |
2015 July | 121 | 8 | 129 |
2015 June | 58 | 10 | 68 |
2015 May | 56 | 8 | 64 |
2015 April | 59 | 12 | 71 |
2015 March | 49 | 7 | 56 |
2015 February | 65 | 8 | 73 |
2015 January | 83 | 6 | 89 |
2014 December | 50 | 4 | 54 |
2014 November | 43 | 6 | 49 |
2014 October | 65 | 4 | 69 |
2014 September | 55 | 9 | 64 |
2014 August | 41 | 7 | 48 |
2014 July | 33 | 11 | 44 |
2014 June | 51 | 4 | 55 |
2014 May | 41 | 10 | 51 |
2014 April | 50 | 9 | 59 |
2014 March | 37 | 7 | 44 |
2014 February | 30 | 6 | 36 |
2014 January | 28 | 11 | 39 |
2013 December | 26 | 6 | 32 |
2013 November | 3 | 4 | 7 |
2013 October | 6 | 4 | 10 |
2013 September | 0 | 1 | 1 |