Case and Research Letter
Lamellar Ichthyosis Due to ALOX12B Mutation
Ictiosis lamellar debido a una mutación en ALOX12B
a Department of Dermatology and Venerology, Centro Hospital de São João EPE, Porto, Portugal
b Department of Genetics, Centro Hospitalar de São João EPE, Porto, Portugal
c Department of Genetics, Faculty of Medicine of University of Porto, Portugal
d Department of Pharmacology and Therapeutics, Faculty of Medicine of University of Porto, Portugal
Leído
18235
Vecesse ha leído el artículo
2744
Total PDF
15491
Total HTML
Compartir estadísticas
array:24 [ "pii" => "S000173101200405X" "issn" => "00017310" "doi" => "10.1016/j.ad.2012.07.011" "estado" => "S300" "fechaPublicacion" => "2013-06-01" "aid" => "707" "copyright" => "Elsevier España, S.L. and AEDV" "copyrightAnyo" => "2012" "documento" => "simple-article" "crossmark" => 0 "subdocumento" => "cor" "cita" => "Actas Dermosifiliogr. 2013;104:443-4" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 6632 "formatos" => array:3 [ "EPUB" => 45 "HTML" => 6000 "PDF" => 587 ] ] "Traduccion" => array:1 [ "en" => array:19 [ "pii" => "S1578219013001145" "issn" => "15782190" "doi" => "10.1016/j.adengl.2012.07.026" "estado" => "S300" "fechaPublicacion" => "2013-06-01" "aid" => "707" "copyright" => "Elsevier España, S.L. and AEDV" "documento" => "simple-article" "crossmark" => 0 "subdocumento" => "cor" "cita" => "Actas Dermosifiliogr. 2013;104:443-4" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 1447 "formatos" => array:3 [ "EPUB" => 37 "HTML" => 676 "PDF" => 734 ] ] "en" => array:8 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Case and Research Letter</span>" "titulo" => "Lamellar Ichthyosis Due to ALOX12B Mutation" "tienePdf" => "en" "tieneTextoCompleto" => 0 "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "443" "paginaFinal" => "444" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Ictiosis lamellar debido a una mutación en ALOX12B" ] ] "contienePdf" => array:1 [ "en" => true ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S000173101200405X" "doi" => "10.1016/j.ad.2012.07.011" "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/S000173101200405X?idApp=UINPBA000044" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1578219013001145?idApp=UINPBA000044" "url" => "/15782190/0000010400000005/v1_201307051101/S1578219013001145/v1_201307051101/en/main.assets" ] ] "itemSiguiente" => array:19 [ "pii" => "S0001731012004061" "issn" => "00017310" "doi" => "10.1016/j.ad.2012.04.020" "estado" => "S300" "fechaPublicacion" => "2013-06-01" "aid" => "708" "copyright" => "Elsevier España, S.L. y AEDV" "documento" => "simple-article" "crossmark" => 0 "subdocumento" => "cor" "cita" => "Actas Dermosifiliogr. 2013;104:445-6" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 5146 "formatos" => array:3 [ "EPUB" => 2 "HTML" => 3224 "PDF" => 1920 ] ] "es" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Carta científico-clínica</span>" "titulo" => "Xantoma verruciforme asociado a reactivación de virus de Epstein-Barr" "tienePdf" => "es" "tieneTextoCompleto" => "es" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "445" "paginaFinal" => "446" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Verruciform Xanthoma Associated with Reactivation of Epstein-Barr Virus" ] ] "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" => 1068 "Ancho" => 1500 "Tamanyo" => 290690 ] ] "descripcion" => array:1 [ "es" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Acantosis papilomatosa con hiperqueratosis y focos de paraqueratosis (hematoxilina-eosina x 2).</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "P. Maldonado-Cid, L. Noguera-Morel, M.J. Beato-Merino, R. de Lucas-Laguna" "autores" => array:4 [ 0 => array:2 [ "nombre" => "P." "apellidos" => "Maldonado-Cid" ] 1 => array:2 [ "nombre" => "L." "apellidos" => "Noguera-Morel" ] 2 => array:2 [ "nombre" => "M.J." "apellidos" => "Beato-Merino" ] 3 => array:2 [ "nombre" => "R." "apellidos" => "de Lucas-Laguna" ] ] ] ] ] "idiomaDefecto" => "es" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S1578219013001029" "doi" => "10.1016/j.adengl.2013.04.010" "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/S1578219013001029?idApp=UINPBA000044" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0001731012004061?idApp=UINPBA000044" "url" => "/00017310/0000010400000005/v1_201307050850/S0001731012004061/v1_201307050850/es/main.assets" ] "itemAnterior" => array:19 [ "pii" => "S0001731012004048" "issn" => "00017310" "doi" => "10.1016/j.ad.2012.05.010" "estado" => "S300" "fechaPublicacion" => "2013-06-01" "aid" => "706" "copyright" => "Elsevier España, S.L. y AEDV" "documento" => "simple-article" "crossmark" => 0 "subdocumento" => "cor" "cita" => "Actas Dermosifiliogr. 2013;104:441-2" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 4808 "formatos" => array:3 [ "EPUB" => 2 "HTML" => 3374 "PDF" => 1432 ] ] "es" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Carta científico-clínica</span>" "titulo" => "Herpes zóster diseminado infantil" "tienePdf" => "es" "tieneTextoCompleto" => "es" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "441" "paginaFinal" => "442" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Disseminated Pediatric Herpes Zoster" ] ] "contieneTextoCompleto" => array:1 [ "es" => true ] "contienePdf" => array:1 [ "es" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0015" "etiqueta" => "Figura 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 2278 "Ancho" => 1500 "Tamanyo" => 284829 ] ] "descripcion" => array:1 [ "es" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">En esta imagen se puede apreciar mejor el grado de diseminación de las lesiones, afectando la cara y el cuello, el tronco y las extremidades.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "A. Ortiz-Brugués, X. Soria-Gili, J.M. Casanova-Seuma" "autores" => array:3 [ 0 => array:2 [ "nombre" => "A." "apellidos" => "Ortiz-Brugués" ] 1 => array:2 [ "nombre" => "X." "apellidos" => "Soria-Gili" ] 2 => array:2 [ "nombre" => "J.M." "apellidos" => "Casanova-Seuma" ] ] ] ] ] "idiomaDefecto" => "es" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S1578219013001017" "doi" => "10.1016/j.adengl.2012.05.025" "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/S1578219013001017?idApp=UINPBA000044" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0001731012004048?idApp=UINPBA000044" "url" => "/00017310/0000010400000005/v1_201307050850/S0001731012004048/v1_201307050850/es/main.assets" ] "en" => array:14 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Case and Research Letter</span>" "titulo" => "Lamellar Ichthyosis Due to ALOX12B Mutation" "tieneTextoCompleto" => true "saludo" => "To the Editor:" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "443" "paginaFinal" => "444" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "F. Osório, M. Leão, F. Azevedo, S. Magina" "autores" => array:4 [ 0 => array:4 [ "nombre" => "F." "apellidos" => "Osório" "email" => array:1 [ 0 => "filipaosorio@gmail.com" ] "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" => "M." "apellidos" => "Leão" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] 2 => array:3 [ "nombre" => "F." "apellidos" => "Azevedo" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 3 => array:3 [ "nombre" => "S." "apellidos" => "Magina" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] ] ] ] "afiliaciones" => array:4 [ 0 => array:3 [ "entidad" => "Department of Dermatology and Venerology, Centro Hospital de São João EPE, Porto, Portugal" "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Department of Genetics, Centro Hospitalar de São João EPE, Porto, Portugal" "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Department of Genetics, Faculty of Medicine of University of Porto, Portugal" "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] 3 => array:3 [ "entidad" => "Department of Pharmacology and Therapeutics, Faculty of Medicine of University of Porto, Portugal" "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Ictiosis lamellar debido a una mutación en ALOX12B" ] ] "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" => 1000 "Ancho" => 1500 "Tamanyo" => 109372 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Clinical picture at birth: collodion baby.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Inherited ichthyoses are a group of genetic Mendelian disorders of cornification that are clinically characterized by hyperkeratosis, scaling, or both, and affect all or most of the integument.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> At the First Ichthyosis Consensus Conference (Sorèze, 2009), autosomal recessive congenital ichthyosis (ARCI) was proposed as an umbrella term for harlequin ichthyosis, lamellar ichthyosis, and congenital ichthyosiform erythroderma.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> ARCI is a rare disorder, with an estimated prevalence of 1 case per 200<span class="elsevierStyleHsp" style=""></span>000 population in Europe and 1 case per 200<span class="elsevierStyleHsp" style=""></span>000–300<span class="elsevierStyleHsp" style=""></span>000 population in the United States.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> According to a recent study, the estimated prevalence in Spain is 7.2 cases per million population (95% CI, 5.7–9.7).<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> ARCI is diagnosed on the basis of skin findings at birth and in infancy.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">Neonates with lamellar ichthyosis typically present with a collodion membrane, which dries and peels away and is replaced by a brown, plate-like scale over the entire body. Disease course ranges from very mild to severe, with the latter involving ectropion, eclabium, scarring alopecia affecting the scalp and the eyebrows, and palmar and plantar hyperkeratosis.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,4</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">With respect to the molecular diagnosis of ARCI, mutations have been identified in 6 genes to date: <span class="elsevierStyleItalic">TGM1</span> (transglutaminase 1), <span class="elsevierStyleItalic">ABCA12</span> (ATP-binding cassette, sub-family A, member 12), <span class="elsevierStyleItalic">NIPAL4</span>/<span class="elsevierStyleItalic">ichthyin</span> (NIPA-like domain containing 4), <span class="elsevierStyleItalic">CYP4F22</span> (cytochrome P450, family 4, subfamily F, polypeptide 22), <span class="elsevierStyleItalic">ALOXE3</span> (arachidonate lipoxygenase 3) and ALOX12B (arachidonate 12-lipoxygenase, 12R type).<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">We herein report the case of a preterm girl with lamellar ichthyosis born with collodion membrane, ectropion, and eclabium at 35 weeks of gestation (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). There was no family history of ichthyosis and the patient had no siblings. Skin biopsy revealed hyperkeratosis with stratum corneum detachment (corresponding to collodion membrane), acanthosis, and a mild lymphohistiocytic infiltrate in the dermis.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">The patient has progressed favorably over a 9-year follow-up at our Pediatric Dermatology Clinic, and now presents with diffuse fine brown scaling and mild palmoplantar keratoderma; there is no ectropion, eclabium, or cicatricial alopecia (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>). Oral retinoids have been administered intermittently since the age of 5 according to dermatological status and cholesterol levels. She is currently taking oral isotretinoin 5<span class="elsevierStyleHsp" style=""></span>mg (0.2<span class="elsevierStyleHsp" style=""></span>mg/kg/d) every other day. She still has no siblings.</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0030" class="elsevierStylePara elsevierViewall">The patient was initially referred to the genetics department, where the following genes were sequentially studied: <span class="elsevierStyleItalic">TGM1</span>, <span class="elsevierStyleItalic">ABCA12</span>, <span class="elsevierStyleItalic">NIPAL4</span>, <span class="elsevierStyleItalic">ALOXE3</span>, and <span class="elsevierStyleItalic">ALOX12B</span>. While the first 4 genes were normal, an apparently homozygous frameshift mutation (c.1272dupC) was identified in exon 9 of <span class="elsevierStyleItalic">ALOX12B</span>, resulting in a truncated ALOX12B protein or diminished ALOX12B messenger RNA (mRNA) due to mRNA decay (GENDIA report). Further studies confirmed that both parents are heterozygous for this mutation.</p><p id="par0035" class="elsevierStylePara elsevierViewall">Molecular diagnosis is crucial in ichthyosis as it provides a firm basis for genetic counseling of affected individuals and families, and also permits DNA-based prenatal diagnosis for families at risk.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a>In a cohort of 520 independent families with ARCI, mutations were identified by direct sequencing of the 6 <span class="elsevierStyleItalic">ARCI</span> genes identified to date in 78% of patients: 32% harbored mutations in <span class="elsevierStyleItalic">TGM1</span>, 16% in <span class="elsevierStyleItalic">NIPAL4</span>, 12% in <span class="elsevierStyleItalic">ALOX12B</span>, 8% in <span class="elsevierStyleItalic">CYP4F22</span>, 5% in <span class="elsevierStyleItalic">ABCA12</span>, and 5% in <span class="elsevierStyleItalic">ALOXE3.</span><a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> At least 22% of the patients did not exhibit mutations in any of the known ARCI genes, indicating the existence of additional loci, such as 2 loci on chromosome 12p11.2-q13.<a class="elsevierStyleCrossRefs" href="#bib0030"><span class="elsevierStyleSup">6–8</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">In another study of 250 independent patients, mutations in <span class="elsevierStyleItalic">TGM1</span> accounted for 38% of all ARCI cases, while mutations in <span class="elsevierStyleItalic">ALOX12B</span> and <span class="elsevierStyleItalic">ALOXE3</span> were found in 6.8% of the cases each.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">More recently, a Spanish group identified mutations in 75% of a group of 20 patients with ARCI. <span class="elsevierStyleItalic">TGM1</span> accounted for 69% of the cases and <span class="elsevierStyleItalic">ALOXE3</span> mutations were detected in a single patient. No mutations were identified in <span class="elsevierStyleItalic">ALOX12B</span>, <span class="elsevierStyleItalic">NIPAL4</span>, or <span class="elsevierStyleItalic">CYP4F22</span>. Causative mutations could not be found in 4 cases, suggesting the involvement of <span class="elsevierStyleItalic">ABCA12</span> or other loci<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a>.</p><p id="par0050" class="elsevierStylePara elsevierViewall">A genetic testing protocol has been proposed for individuals with ARCI. Sequence analysis should start with <span class="elsevierStyleItalic">TGM1</span>, except in cases of harlequin ichthyosis, where <span class="elsevierStyleItalic">ABCA12</span> should be performed first. If negative, further diagnostic testing of <span class="elsevierStyleItalic">ALOX12B</span>, <span class="elsevierStyleItalic">ALOXE3</span>, and <span class="elsevierStyleItalic">NIPAL4</span> should be performed.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">Generally, there seems to be a limited genotype–phenotype correlation in ARCI.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> However, mutations in <span class="elsevierStyleItalic">ALOX12B</span> have been related in mild to moderate phenotypes, including minor manifestations such as white or light-brown scaling, with moderate or no erythema.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> In fact, a recent study found <span class="elsevierStyleItalic">ALOX12B</span> mutations to be the leading cause of self-healing collodion baby in Scandinavia (8/15 patients)<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a>. The mild ichthyotic phenotype observed in our patient is consistent with these data.</p><p id="par0060" class="elsevierStylePara elsevierViewall">We have reported the case of collodion baby with lamellar ichthyosis and a favorable disease course for whom the search for less common mutations, such as those involving <span class="elsevierStyleItalic">ALOX12B</span>, was essential for correct diagnosis and genetic counseling.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "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" => 1000 "Ancho" => 1500 "Tamanyo" => 109372 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Clinical picture at birth: collodion baby.</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" => 2932 "Ancho" => 1667 "Tamanyo" => 407295 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Clinical picture at the age of 9: lamellar ichthyosis.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:10 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "V. Oji" 1 => "G. Tadini" 2 => "M. Akiyama" 3 => "C. Blanchet Bardon" 4 => "C. Bodemer" 5 => "E. Bourrat" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.jaad.2009.11.020" "Revista" => array:6 [ "tituloSerie" => "J Am Acad Dermatol" "fecha" => "2010" "volumen" => "63" "paginaInicial" => "607" "paginaFinal" => "641" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/20643494" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The genetics of ichthyosis: a primer for epidemiologists" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "S.J. Bale" 1 => "S.Z. Doyle" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Invest Dermatol" "fecha" => "1994" "volumen" => "102" "paginaInicial" => "49S" "paginaFinal" => "50S" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/8006437" "web" => "Medline" ] ] ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0015" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "A. Hernandez-Martin" 1 => "I. Garcia-Doval" 2 => "B. Aranegui" 3 => "P. de Unamuno" 4 => "L. Rodríguez-Pazos" 5 => "M.A. González-Enseñat" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:2 [ "tituloSerie" => "J Am Acad Dermatol" "fecha" => "2011" ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0020" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Autosomal recessive congenital ichthyosis" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "S.J. Bale" 1 => "G. Richard" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "LibroEditado" => array:2 [ "titulo" => "Genereviews" "serieFecha" => "1993" ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0025" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "L. Rodriguez-Pazos" 1 => "M. Ginarte" 2 => "L. Fachal" 3 => "J. Toribio" 4 => "A. Carracedo" 5 => "A. Vega" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1111/j.1365-2133.2011.10454.x" "Revista" => array:6 [ "tituloSerie" => "Br J Dermatol" "fecha" => "2011" "volumen" => "165" "paginaInicial" => "906" "paginaFinal" => "911" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/21668430" "web" => "Medline" ] ] ] ] ] ] ] ] 5 => array:3 [ "identificador" => "bib0030" "etiqueta" => "6" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Autosomal recessive congenital ichthyosis" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "J. Fischer" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/jid.2009.57" "Revista" => array:6 [ "tituloSerie" => "J Invest Dermatol" "fecha" => "2009" "volumen" => "129" "paginaInicial" => "1319" "paginaFinal" => "1321" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/19434086" "web" => "Medline" ] ] ] ] ] ] ] ] 6 => array:3 [ "identificador" => "bib0035" "etiqueta" => "7" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "M. Mizrachi-Koren" 1 => "D. Geiger" 2 => "M. Indelman" 3 => "O. Bitterman-Deutsch" 4 => "R. Bergman" 5 => "E. Sprecher" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1111/j.0022-202X.2005.23777.x" "Revista" => array:6 [ "tituloSerie" => "J Invest Dermatol" "fecha" => "2005" "volumen" => "125" "paginaInicial" => "456" "paginaFinal" => "462" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/16117785" "web" => "Medline" ] ] ] ] ] ] ] ] 7 => array:3 [ "identificador" => "bib0040" "etiqueta" => "8" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "S.J. Hatsell" 1 => "H. Stevens" 2 => "A.P. Jackson" 3 => "D.P. Kelsell" 4 => "A. Zvulunov" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Br J Dermatol" "fecha" => "2003" "volumen" => "149" "paginaInicial" => "174" "paginaFinal" => "180" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/12890214" "web" => "Medline" ] ] ] ] ] ] ] ] 8 => array:3 [ "identificador" => "bib0045" "etiqueta" => "9" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "K.M. Eckl" 1 => "S. de Juanes" 2 => "J. Kurtenbach" 3 => "M. Natebus" 4 => "J. Lugassy" 5 => "V. Oji" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/jid.2008.409" "Revista" => array:6 [ "tituloSerie" => "J Invest Dermatol" "fecha" => "2009" "volumen" => "129" "paginaInicial" => "1421" "paginaFinal" => "1428" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/19131948" "web" => "Medline" ] ] ] ] ] ] ] ] 9 => array:3 [ "identificador" => "bib0050" "etiqueta" => "10" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "A. Vahlquist" 1 => "A. Bygum" 2 => "A. Ganemo" 3 => "M. Virtanen" 4 => "M. Hellström-Pigg" 5 => "G. Strauss" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/jid.2009.346" "Revista" => array:6 [ "tituloSerie" => "J Invest Dermatol" "fecha" => "2010" "volumen" => "130" "paginaInicial" => "438" "paginaFinal" => "443" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/19890349" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/00017310/0000010400000005/v1_201307050850/S000173101200405X/v1_201307050850/en/main.assets" "Apartado" => array:4 [ "identificador" => "6160" "tipo" => "SECCION" "es" => array:2 [ "titulo" => "Cartas científico-clínicas" "idiomaDefecto" => true ] "idiomaDefecto" => "es" ] "PDF" => "https://static.elsevier.es/multimedia/00017310/0000010400000005/v1_201307050850/S000173101200405X/v1_201307050850/en/main.pdf?idApp=UINPBA000044&text.app=https://actasdermo.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S000173101200405X?idApp=UINPBA000044" ]
| año/Mes | Html | Total | |
|---|---|---|---|
| 2024 Noviembre | 17 | 16 | 33 |
| 2024 Octubre | 79 | 63 | 142 |
| 2024 Septiembre | 70 | 42 | 112 |
| 2024 Agosto | 109 | 79 | 188 |
| 2024 Julio | 72 | 55 | 127 |
| 2024 Junio | 78 | 55 | 133 |
| 2024 Mayo | 79 | 50 | 129 |
| 2024 Abril | 78 | 33 | 111 |
| 2024 Marzo | 92 | 35 | 127 |
| 2024 Febrero | 105 | 29 | 134 |
| 2024 Enero | 97 | 35 | 132 |
| 2023 Diciembre | 195 | 22 | 217 |
| 2023 Noviembre | 342 | 37 | 379 |
| 2023 Octubre | 360 | 31 | 391 |
| 2023 Septiembre | 306 | 29 | 335 |
| 2023 Agosto | 242 | 37 | 279 |
| 2023 Julio | 243 | 40 | 283 |
| 2023 Junio | 218 | 38 | 256 |
| 2023 Mayo | 367 | 54 | 421 |
| 2023 Abril | 232 | 42 | 274 |
| 2023 Marzo | 217 | 30 | 247 |
| 2023 Febrero | 159 | 29 | 188 |
| 2023 Enero | 219 | 27 | 246 |
| 2022 Diciembre | 241 | 33 | 274 |
| 2022 Noviembre | 119 | 38 | 157 |
| 2022 Octubre | 148 | 33 | 181 |
| 2022 Septiembre | 138 | 49 | 187 |
| 2022 Agosto | 137 | 46 | 183 |
| 2022 Julio | 139 | 58 | 197 |
| 2022 Junio | 188 | 32 | 220 |
| 2022 Mayo | 263 | 43 | 306 |
| 2022 Abril | 241 | 56 | 297 |
| 2022 Marzo | 197 | 55 | 252 |
| 2022 Febrero | 231 | 19 | 250 |
| 2022 Enero | 279 | 44 | 323 |
| 2021 Diciembre | 198 | 55 | 253 |
| 2021 Noviembre | 140 | 47 | 187 |
| 2021 Octubre | 148 | 51 | 199 |
| 2021 Septiembre | 148 | 51 | 199 |
| 2021 Agosto | 189 | 38 | 227 |
| 2021 Julio | 178 | 34 | 212 |
| 2021 Junio | 156 | 53 | 209 |
| 2021 Mayo | 228 | 43 | 271 |
| 2021 Abril | 494 | 90 | 584 |
| 2021 Marzo | 295 | 31 | 326 |
| 2021 Febrero | 178 | 31 | 209 |
| 2021 Enero | 149 | 22 | 171 |
| 2020 Diciembre | 155 | 15 | 170 |
| 2020 Noviembre | 114 | 15 | 129 |
| 2020 Octubre | 51 | 10 | 61 |
| 2020 Septiembre | 116 | 19 | 135 |
| 2020 Agosto | 68 | 22 | 90 |
| 2020 Julio | 54 | 13 | 67 |
| 2020 Junio | 41 | 37 | 78 |
| 2020 Mayo | 28 | 22 | 50 |
| 2020 Abril | 37 | 20 | 57 |
| 2020 Marzo | 26 | 23 | 49 |
| 2020 Febrero | 5 | 10 | 15 |
| 2020 Enero | 4 | 14 | 18 |
| 2019 Diciembre | 3 | 4 | 7 |
| 2019 Noviembre | 4 | 1 | 5 |
| 2019 Octubre | 0 | 2 | 2 |
| 2019 Septiembre | 0 | 4 | 4 |
| 2019 Agosto | 4 | 1 | 5 |
| 2019 Julio | 4 | 1 | 5 |
| 2019 Junio | 4 | 8 | 12 |
| 2019 Mayo | 4 | 13 | 17 |
| 2019 Abril | 2 | 5 | 7 |
| 2019 Marzo | 2 | 9 | 11 |
| 2019 Febrero | 0 | 1 | 1 |
| 2019 Enero | 4 | 0 | 4 |
| 2018 Diciembre | 2 | 2 | 4 |
| 2018 Noviembre | 1 | 0 | 1 |
| 2018 Octubre | 3 | 3 | 6 |
| 2018 Septiembre | 5 | 0 | 5 |
| 2018 Mayo | 0 | 9 | 9 |
| 2018 Abril | 0 | 1 | 1 |
| 2018 Marzo | 24 | 2 | 26 |
| 2018 Febrero | 125 | 6 | 131 |
| 2018 Enero | 115 | 5 | 120 |
| 2017 Diciembre | 148 | 9 | 157 |
| 2017 Noviembre | 131 | 5 | 136 |
| 2017 Octubre | 76 | 4 | 80 |
| 2017 Septiembre | 110 | 15 | 125 |
| 2017 Agosto | 63 | 16 | 79 |
| 2017 Julio | 80 | 9 | 89 |
| 2017 Junio | 94 | 38 | 132 |
| 2017 Mayo | 63 | 15 | 78 |
| 2017 Abril | 49 | 14 | 63 |
| 2017 Marzo | 54 | 35 | 89 |
| 2017 Febrero | 131 | 4 | 135 |
| 2017 Enero | 79 | 4 | 83 |
| 2016 Diciembre | 103 | 13 | 116 |
| 2016 Noviembre | 164 | 11 | 175 |
| 2016 Octubre | 212 | 12 | 224 |
| 2016 Septiembre | 232 | 13 | 245 |
| 2016 Agosto | 39 | 11 | 50 |
| 2016 Julio | 29 | 9 | 38 |
| 2016 Junio | 6 | 20 | 26 |
| 2016 Mayo | 4 | 10 | 14 |
| 2016 Abril | 2 | 0 | 2 |
| 2016 Marzo | 4 | 0 | 4 |
| 2016 Febrero | 3 | 4 | 7 |
| 2016 Enero | 8 | 32 | 40 |
| 2015 Diciembre | 5 | 20 | 25 |
| 2015 Noviembre | 22 | 18 | 40 |
| 2015 Octubre | 7 | 14 | 21 |
| 2015 Septiembre | 14 | 6 | 20 |
| 2015 Agosto | 12 | 0 | 12 |
| 2015 Julio | 351 | 3 | 354 |
| 2015 Junio | 286 | 21 | 307 |
| 2015 Mayo | 226 | 1 | 227 |
| 2015 Abril | 138 | 0 | 138 |
| 2015 Marzo | 210 | 1 | 211 |
| 2015 Febrero | 176 | 0 | 176 |
| 2015 Enero | 93 | 0 | 93 |
| 2014 Diciembre | 124 | 0 | 124 |
| 2014 Noviembre | 119 | 0 | 119 |
| 2014 Octubre | 140 | 0 | 140 |
| 2014 Septiembre | 137 | 0 | 137 |
| 2014 Agosto | 153 | 0 | 153 |
| 2014 Julio | 193 | 0 | 193 |
| 2014 Junio | 169 | 0 | 169 |
| 2014 Mayo | 134 | 0 | 134 |
| 2014 Abril | 111 | 0 | 111 |
| 2014 Marzo | 199 | 11 | 210 |
| 2014 Febrero | 182 | 9 | 191 |
| 2014 Enero | 136 | 5 | 141 |
| 2013 Diciembre | 130 | 8 | 138 |
| 2013 Noviembre | 82 | 1 | 83 |
| 2013 Octubre | 79 | 9 | 88 |
| 2013 Septiembre | 61 | 6 | 67 |
| 2013 Agosto | 51 | 9 | 60 |
| 2013 Julio | 38 | 24 | 62 |
| 2013 Junio | 26 | 18 | 44 |
Mostrar todo
