Case and Research Letter
Expanding the Genotype of Sjögren–Larsson Syndrome: A New Case Due to Two Novel Mutations
Ampliando el genotipo del síndrome de Sjögren-Larsson: un nuevo caso causado por dos nuevas mutaciones
E. García-Peris
, I. Latour-Álvarez, M. Pestana-Eliche, R. Sánchez
Corresponding author
Department of Dermatology, Hospital Universitario de Canarias, Tenerife, Spain
Read
4005
Timeswas read the article
1583
Total PDF
2422
Total HTML
Share statistics
array:24 [ "pii" => "S1578219017302093" "issn" => "15782190" "doi" => "10.1016/j.adengl.2016.12.023" "estado" => "S300" "fechaPublicacion" => "2017-07-01" "aid" => "1603" "copyright" => "Elsevier España, S.L.U. and AEDV" "copyrightAnyo" => "2017" "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "crp" "cita" => "Actas Dermosifiliogr. 2017;108:601-3" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 331 "formatos" => array:3 [ "EPUB" => 27 "HTML" => 223 "PDF" => 81 ] ] "Traduccion" => array:1 [ "en" => array:19 [ "pii" => "S0001731017300595" "issn" => "00017310" "doi" => "10.1016/j.ad.2016.12.015" "estado" => "S300" "fechaPublicacion" => "2017-07-01" "aid" => "1603" "copyright" => "AEDV" "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "crp" "cita" => "Actas Dermosifiliogr. 2017;108:601-3" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 566 "formatos" => array:3 [ "EPUB" => 79 "HTML" => 142 "PDF" => 345 ] ] "en" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Case and Research Letter</span>" "titulo" => "Expanding the Genotype of Sjögren–Larsson Syndrome: A New Case Due to Two Novel Mutations" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "601" "paginaFinal" => "603" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Ampliando el genotipo del síndrome de Sjögren-Larsson: un nuevo caso causado por dos nuevas mutaciones" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1716 "Ancho" => 1980 "Tamanyo" => 1331749 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">A skin biopsy from an armpit revealed hyperkeratosis, psoriasiform epidermal hyperplasia and slightly thickened granular layer in epidermis, and mild perivascular inflammatory infiltrate of mononuclear cells in papillary dermis (H&E 4×).</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "E. García-Peris, I. Latour-Álvarez, M. Pestana-Eliche, R. Sánchez" "autores" => array:4 [ 0 => array:2 [ "nombre" => "E." "apellidos" => "García-Peris" ] 1 => array:2 [ "nombre" => "I." "apellidos" => "Latour-Álvarez" ] 2 => array:2 [ "nombre" => "M." "apellidos" => "Pestana-Eliche" ] 3 => array:2 [ "nombre" => "R." "apellidos" => "Sánchez" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S1578219017302093" "doi" => "10.1016/j.adengl.2016.12.023" "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/S1578219017302093?idApp=UINPBA000044" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0001731017300595?idApp=UINPBA000044" "url" => "/00017310/0000010800000006/v3_201707250313/S0001731017300595/v3_201707250313/en/main.assets" ] ] "itemSiguiente" => array:19 [ "pii" => "S157821901730210X" "issn" => "15782190" "doi" => "10.1016/j.adengl.2016.12.024" "estado" => "S300" "fechaPublicacion" => "2017-07-01" "aid" => "1580" "copyright" => "Elsevier España, S.L.U. and AEDV" "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "crp" "cita" => "Actas Dermosifiliogr. 2017;108:603-4" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 370 "formatos" => array:3 [ "EPUB" => 29 "HTML" => 250 "PDF" => 91 ] ] "en" => array:10 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Case and Research Letter</span>" "titulo" => "Split doses of Methotrexate in patients with moderate to severe Psoriasis" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "603" "paginaFinal" => "604" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Dosis divididas de metotrexato en pacientes con psoriasis moderada a severa" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "M.J.M. Rodríguez-Zúñiga, F. Cortez-Franco, E. Qujiano-Gomero" "autores" => array:3 [ 0 => array:2 [ "nombre" => "M.J.M." "apellidos" => "Rodríguez-Zúñiga" ] 1 => array:2 [ "nombre" => "F." "apellidos" => "Cortez-Franco" ] 2 => array:2 [ "nombre" => "E." "apellidos" => "Qujiano-Gomero" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S0001731017300145" "doi" => "10.1016/j.ad.2016.12.004" "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/S0001731017300145?idApp=UINPBA000044" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S157821901730210X?idApp=UINPBA000044" "url" => "/15782190/0000010800000006/v1_201706300050/S157821901730210X/v1_201706300050/en/main.assets" ] "itemAnterior" => array:19 [ "pii" => "S1578219017302081" "issn" => "15782190" "doi" => "10.1016/j.adengl.2016.11.021" "estado" => "S300" "fechaPublicacion" => "2017-07-01" "aid" => "1604" "copyright" => "Elsevier España, S.L.U. and AEDV" "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "crp" "cita" => "Actas Dermosifiliogr. 2017;108:599-601" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 360 "formatos" => array:3 [ "EPUB" => 31 "HTML" => 258 "PDF" => 71 ] ] "en" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Case and Research Letter</span>" "titulo" => "Sorafenib-induced Acute Generalized Exanthematous Pustulosis: An Increasing Association?" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "599" "paginaFinal" => "601" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Pustulosis exantemática generalizada aguda por sorafenib: ¿una relación en aumento?" ] ] "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" => 773 "Ancho" => 3167 "Tamanyo" => 259430 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Clinical evolution. (a) Exanthema affecting mainly face, upper trunk, superior limbs with isolated patches on abdomen and lower extremities. (b) Closer image showing isolated pustules surrounded by erythema. (c) Evolution of the exanthema 5 days after Sorafenib discontinuation. Mild erythema and desquamation on upper trunk with pustules resolution.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "A. Alegre-Sánchez, D. de Perosanz-Lobo, I. Pinilla-Pagnon, E. Muñoz-Zato" "autores" => array:4 [ 0 => array:2 [ "nombre" => "A." "apellidos" => "Alegre-Sánchez" ] 1 => array:2 [ "nombre" => "D." "apellidos" => "de Perosanz-Lobo" ] 2 => array:2 [ "nombre" => "I." "apellidos" => "Pinilla-Pagnon" ] 3 => array:2 [ "nombre" => "E." "apellidos" => "Muñoz-Zato" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S0001731017300601" "doi" => "10.1016/j.ad.2016.11.018" "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/S0001731017300601?idApp=UINPBA000044" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1578219017302081?idApp=UINPBA000044" "url" => "/15782190/0000010800000006/v1_201706300050/S1578219017302081/v1_201706300050/en/main.assets" ] "en" => array:15 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Case and Research Letter</span>" "titulo" => "Expanding the Genotype of Sjögren–Larsson Syndrome: A New Case Due to Two Novel Mutations" "tieneTextoCompleto" => true "saludo" => "Dear Editor," "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "601" "paginaFinal" => "603" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "E. García-Peris, I. Latour-Álvarez, M. Pestana-Eliche, R. Sánchez" "autores" => array:4 [ 0 => array:4 [ "nombre" => "E." "apellidos" => "García-Peris" "email" => array:1 [ 0 => "estelagperis@gmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "I." "apellidos" => "Latour-Álvarez" ] 2 => array:2 [ "nombre" => "M." "apellidos" => "Pestana-Eliche" ] 3 => array:2 [ "nombre" => "R." "apellidos" => "Sánchez" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Department of Dermatology, Hospital Universitario de Canarias, Tenerife, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Ampliando el genotipo del síndrome de Sjögren-Larsson: un nuevo caso causado por dos nuevas mutaciones" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1716 "Ancho" => 1980 "Tamanyo" => 1335406 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">A skin biopsy from an armpit revealed hyperkeratosis, psoriasiform epidermal hyperplasia and slightly thickened granular layer in epidermis, and mild perivascular inflammatory infiltrate of mononuclear cells in papillary dermis (H&E 4×).</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Sjögren–Larsson syndrome (SLS) is a rare genetic disorder with autosomal recessive inheritance,<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">1,2</span></a> characterized by clinical triad of congenital ichthyosis, spastic diplegia or tetraplegia and mental retardation.<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">1,3,4</span></a> We report a new patient affected by SLS due to two unreported mutations.</p><p id="par0010" class="elsevierStylePara elsevierViewall">A 6 months male child was referred to our hospital because of congenital erythroderma and subsequent development of generalized fine scaling and persistent pruritus. He was the first child of non-consanguineous parents, born at 33 weeks of gestation. There was no history suggestive of a collodion membrane at birth, and no family history of ichthyosis. On physical examination we observed generalized fine desquamation on the limbs and trunk without underlying erythema (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>A) and hyperkeratotic skin on the armpits (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>B), palms and soles (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>C). Hair and nails appeared normal. Given that an ichthyosis was the diagnosis suspected, a skin biopsy from an armpit was made. Histological study showed hyperkeratosis, psoriasiform epidermal hyperplasia, a prominent granulous layer in some areas of the epidermis and mild perivascular inflammatory infiltrate of mononuclear cells in papillary dermis (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>), resulting compatible with a congenital ichthyosis. The rest of the physical exam showed the patient had macrocephaly, mild psychomotor retardation, mild axial hypotonia, incipient signs of spasticity in the lower limbs, and occasional spasms. A transfontanelar ultrasound showed benign external hydrocephaly, which was confirmed in a brain magnetic resonance imaging where others anomalies were not observed. Given the coexistence of congenital ichthyosis and neurological signs, our clinical suspicion was a neurocutaneous disorder. Ophthalmologic examination, peripheral blood smear, peripheral blood analysis and abdominal ultrasound were normal. Genetic analysis of the patient confirmed the diagnosis of Sjögren–Larsson syndrome (SLS) by identifying two unreported heterozygous ALDH3A2 mutations, a deletion mutation c.154_155delAG (p.Ser52Stop) in exon 2 and a missense mutation c.536A<span class="elsevierStyleHsp" style=""></span>><span class="elsevierStyleHsp" style=""></span>T (p.Asp179Val) in exon 4. The c.154_155delAG mutation is considered of pathogenic nature, and the variant c.536A<span class="elsevierStyleHsp" style=""></span>><span class="elsevierStyleHsp" style=""></span>T is likely to cause disease by several in silico analysis. Despite the genetic counseling, the patient's parents did not want to perform the genetic study in that moment. Progressively, the neurological symptoms were worsening by detecting hyperreflexia, spasticity and delay speech in our patient.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">In 1957, Karl Gustaf Torsten Sjögren, on collaboration with Tage K. Larsson, established the clinical and genetic profile of the Sjögren–Larsson syndrome (SLS).<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">5</span></a> SLS is a recessively inherited neurocutaneous disorder characterized by a triad of congenital ichthyosis, mild to moderate mental retardation and spastic diplegia or tetraplegia, caused by a fatty aldehyde dehydrogenase (FALDH) deficiency.<a class="elsevierStyleCrossRefs" href="#bib0060"><span class="elsevierStyleSup">4,6,7</span></a> It occurs in all races and its prevalence worldwide has been estimated as 0.4:100,000 live births.<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">1,4</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">SLS is caused by mutation in the ALDH3A2 gene on the short arm of chromosome 17 (17p11.2), that is the gene for FALDH which catalyzes oxidation of long chain aliphatic alcohols to corresponding fatty acids.<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">3,8</span></a> The consequent accumulation of fatty aldehyde precursors, including fatty alcohols, caused by the FALDH deficiency, is postulated to affect the normal formation of multilamellar membranes in the stratum corneum and myelin, and to result in the symptoms.<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">7</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">The disorder presents at birth or in the neonatal period with varying degrees of erythema and ichthyosis, but a collodion membrane is rarely seen. Ichthyosis has a generalized distribution across the trunk, flexures and nape of neck, although the central face is spared in most cases.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">1</span></a> Palmoplantar keratoderma is seen in 50% of cases.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">3</span></a> The nails and hair are interestingly normal.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">6</span></a> Persistent pruritus is common, which is mostly absent in other forms of ichthyosis.<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">1,4,8</span></a> The histological findings of hyperkeratosis, papillomatosis, acanthosis, and a mildly thickened granular layer are nonspecific.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">5</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">The diagnosis of SLS is delayed until the onset of neurological symptoms, because only cutaneous manifestations are present at birth.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">3</span></a> The neurological symptoms appear in the first or second year of life,<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">3,4</span></a> and include cognitive impairment, brain magnetic resonance imaging (MRI) findings, speech–language development and spasticity.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">1</span></a> One-third of patients present with perifoveal glistening white dots in the ocular fundus which appear after several years of age,<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">3</span></a> and their occurrence strongly suggests SLS.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">4</span></a> Macrocephaly is not a characteristic or common finding in SLS.</p><p id="par0035" class="elsevierStylePara elsevierViewall">Mutation analysis of the ALDH3A2 gene is a highly sensitive method of confirming the diagnosis of SLS.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">4</span></a> More than 90 pathogenic variants of ALDH3A2 have been identified to date.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">1</span></a> The diagnosis of SLS can be confirmed by measurement of enzyme activity in cultured skin fibroblasts or leukocytes.</p><p id="par0040" class="elsevierStylePara elsevierViewall">There is no permanent cure for SLS and no specific therapy, so that a multidisciplinary approach is necessary.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">3</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">In conclusion, we report a new case of SLS caused by two novel mutations, supporting the rich mutational heterogeneity associated with this syndrome. High index of suspicion is necessary for the diagnosis of SLS, so that in a neonate or infant with congenital ichthyosis and neurological symptoms we must rule out this neurocutaneous disorder.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Conflict of interests</span><p id="par0050" class="elsevierStylePara elsevierViewall">The authors declare no conflict of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:2 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Conflict of interests" ] 1 => array:1 [ "titulo" => "References" ] ] ] "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" => 1766 "Ancho" => 3600 "Tamanyo" => 324418 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(A) Generalized xerosis with fine desquamation on the trunk. (B) Hyperkeratotic and brownish skin on the armpits. (C) Hyperkeratotic skin on the soles.</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" => 1716 "Ancho" => 1980 "Tamanyo" => 1335406 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">A skin biopsy from an armpit revealed hyperkeratosis, psoriasiform epidermal hyperplasia and slightly thickened granular layer in epidermis, and mild perivascular inflammatory infiltrate of mononuclear cells in papillary dermis (H&E 4×).</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:8 [ 0 => array:3 [ "identificador" => "bib0045" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Case of Sjögren–Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "N.E. Gaboon" 1 => "M. Jelani" 2 => "M.M. Almramhi" 3 => "H.S. Mohamoud" 4 => "J.Y. Al-Aama" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1111/1346-8138.12861" "Revista" => array:6 [ "tituloSerie" => "J Dermatol" "fecha" => "2015" "volumen" => "42" "paginaInicial" => "706" "paginaFinal" => "709" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/25855245" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0050" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Sjögren-Larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "A. Gånemo" 1 => "S. Jagell" 2 => "A. Vahlquist" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.2340/00015555-0561" "Revista" => array:6 [ "tituloSerie" => "Acta Derm Venereol" "fecha" => "2009" "volumen" => "89" "paginaInicial" => "68" "paginaFinal" => "73" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/19197545" "web" => "Medline" ] ] ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0055" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Sjögren-Larsson syndrome: a study of clinical symptoms in six children" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "S.M. Srinivas" 1 => "K.V. Raju" 2 => "R. Hiremagalore" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.4103/2229-5178.131099" "Revista" => array:6 [ "tituloSerie" => "Indian Dermatol Online J" "fecha" => "2014" "volumen" => "5" "paginaInicial" => "185" "paginaFinal" => "188" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/24860759" "web" => "Medline" ] ] ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0060" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A Turkish family with Sjögren–Larsson syndrome caused by a novel ALDH3A2 mutation" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "F. Incecik" 1 => "O.M. Herguner" 2 => "W.B. Rizzo" 3 => "S. Altunbasak" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.4103/0972-2327.116927" "Revista" => array:6 [ "tituloSerie" => "Ann Indian Acad Neurol" "fecha" => "2013" "volumen" => "16" "paginaInicial" => "425" "paginaFinal" => "427" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/24101836" "web" => "Medline" ] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0065" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Karl Gustaf Torsten Sjögren and Sjögren–Larsson syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "K.A. Aboud" 1 => "D.A. Aboud" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.4081/dr.2011.e34" "Revista" => array:5 [ "tituloSerie" => "Dermatol Reports" "fecha" => "2011" "volumen" => "3" "paginaInicial" => "e34" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/25386286" "web" => "Medline" ] ] ] ] ] ] ] ] 5 => array:3 [ "identificador" => "bib0070" "etiqueta" => "6" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "U. Yiş" 1 => "A. Terrinoni" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Turk J Pediatr" "fecha" => "2012" "volumen" => "54" "paginaInicial" => "64" "paginaFinal" => "66" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/22397046" "web" => "Medline" ] ] ] ] ] ] ] ] 6 => array:3 [ "identificador" => "bib0075" "etiqueta" => "7" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Sjögren–Larsson syndrome due to a novel mutation in the FALDH gene" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "J.M. Botelho Gomes" 1 => "A.P. Vieira" 2 => "J. Navarro" 3 => "R. Maré" 4 => "P. Tavares" 5 => "C. Brito" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1684/ejd.2011.1286" "Revista" => array:6 [ "tituloSerie" => "Eur J Dermatol" "fecha" => "2011" "volumen" => "21" "paginaInicial" => "412" "paginaFinal" => "413" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/21524986" "web" => "Medline" ] ] ] ] ] ] ] ] 7 => array:3 [ "identificador" => "bib0080" "etiqueta" => "8" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Sjogren–Larsson syndrome: a case report of a rare disease" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "S.P. Gupta" 1 => "A. Mittal" 2 => "B. Maini" 3 => "S. Gupta" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.4103/2229-5178.79866" "Revista" => array:6 [ "tituloSerie" => "Indian Dermatol Online J" "fecha" => "2011" "volumen" => "2" "paginaInicial" => "31" "paginaFinal" => "33" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/23130213" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/15782190/0000010800000006/v1_201706300050/S1578219017302093/v1_201706300050/en/main.assets" "Apartado" => array:4 [ "identificador" => "6157" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Case and Research Letters" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/15782190/0000010800000006/v1_201706300050/S1578219017302093/v1_201706300050/en/main.pdf?idApp=UINPBA000044&text.app=https://actasdermo.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1578219017302093?idApp=UINPBA000044" ]
| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 7 | 7 | 14 |
| 2024 October | 69 | 36 | 105 |
| 2024 September | 68 | 21 | 89 |
| 2024 August | 96 | 47 | 143 |
| 2024 July | 77 | 33 | 110 |
| 2024 June | 82 | 42 | 124 |
| 2024 May | 71 | 38 | 109 |
| 2024 April | 70 | 24 | 94 |
| 2024 March | 66 | 28 | 94 |
| 2024 February | 66 | 34 | 100 |
| 2024 January | 61 | 29 | 90 |
| 2023 December | 59 | 15 | 74 |
| 2023 November | 65 | 23 | 88 |
| 2023 October | 44 | 22 | 66 |
| 2023 September | 55 | 29 | 84 |
| 2023 August | 32 | 14 | 46 |
| 2023 July | 37 | 28 | 65 |
| 2023 June | 34 | 15 | 49 |
| 2023 May | 36 | 27 | 63 |
| 2023 April | 33 | 15 | 48 |
| 2023 March | 43 | 17 | 60 |
| 2023 February | 27 | 28 | 55 |
| 2023 January | 26 | 24 | 50 |
| 2022 December | 43 | 37 | 80 |
| 2022 November | 30 | 33 | 63 |
| 2022 October | 35 | 24 | 59 |
| 2022 September | 23 | 28 | 51 |
| 2022 August | 20 | 25 | 45 |
| 2022 July | 20 | 37 | 57 |
| 2022 June | 19 | 24 | 43 |
| 2022 May | 27 | 39 | 66 |
| 2022 April | 26 | 28 | 54 |
| 2022 March | 44 | 38 | 82 |
| 2022 February | 27 | 25 | 52 |
| 2022 January | 30 | 34 | 64 |
| 2021 December | 31 | 41 | 72 |
| 2021 November | 34 | 39 | 73 |
| 2021 October | 40 | 50 | 90 |
| 2021 September | 31 | 42 | 73 |
| 2021 August | 32 | 29 | 61 |
| 2021 July | 29 | 29 | 58 |
| 2021 June | 21 | 15 | 36 |
| 2021 May | 32 | 38 | 70 |
| 2021 April | 54 | 48 | 102 |
| 2021 March | 44 | 26 | 70 |
| 2021 February | 37 | 16 | 53 |
| 2021 January | 24 | 11 | 35 |
| 2020 December | 24 | 18 | 42 |
| 2020 November | 25 | 16 | 41 |
| 2020 October | 12 | 6 | 18 |
| 2020 September | 22 | 14 | 36 |
| 2020 August | 19 | 15 | 34 |
| 2020 July | 34 | 21 | 55 |
| 2020 June | 30 | 28 | 58 |
| 2020 May | 19 | 9 | 28 |
| 2020 April | 17 | 11 | 28 |
| 2020 March | 18 | 12 | 30 |
| 2020 February | 4 | 0 | 4 |
| 2020 January | 2 | 0 | 2 |
| 2019 December | 4 | 0 | 4 |
| 2019 November | 4 | 0 | 4 |
| 2019 September | 6 | 0 | 6 |
| 2019 August | 4 | 0 | 4 |
| 2019 July | 4 | 0 | 4 |
| 2019 June | 4 | 0 | 4 |
| 2019 May | 4 | 0 | 4 |
| 2019 April | 2 | 0 | 2 |
| 2019 February | 1 | 0 | 1 |
| 2019 January | 1 | 0 | 1 |
| 2018 December | 2 | 0 | 2 |
| 2018 November | 3 | 0 | 3 |
| 2018 October | 1 | 0 | 1 |
| 2018 September | 3 | 0 | 3 |
| 2018 February | 10 | 2 | 12 |
| 2018 January | 14 | 1 | 15 |
| 2017 December | 23 | 13 | 36 |
| 2017 November | 11 | 5 | 16 |
| 2017 October | 20 | 9 | 29 |
| 2017 September | 15 | 7 | 22 |
| 2017 August | 33 | 19 | 52 |
| 2017 July | 46 | 24 | 70 |
| 2017 June | 4 | 1 | 5 |
Show all
