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and no family history of ichthyosis&#46; On physical examination we observed generalized fine desquamation on the limbs and trunk without underlying erythema &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>A&#41; and hyperkeratotic skin on the armpits &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>B&#41;&#44; palms and soles &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>C&#41;&#46; Hair and nails appeared normal&#46; Given that an ichthyosis was the diagnosis suspected&#44; a skin biopsy from an armpit was made&#46; Histological study showed hyperkeratosis&#44; psoriasiform epidermal hyperplasia&#44; a prominent granulous layer in some areas of the epidermis and mild perivascular inflammatory infiltrate of mononuclear cells in papillary dermis &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#44; resulting compatible with a congenital ichthyosis&#46; The rest of the physical exam showed the patient had macrocephaly&#44; mild psychomotor retardation&#44; mild axial hypotonia&#44; incipient signs of spasticity in the lower limbs&#44; and occasional spasms&#46; A transfontanelar ultrasound showed benign external hydrocephaly&#44; which was confirmed in a brain magnetic resonance imaging where others anomalies were not observed&#46; Given the coexistence of congenital ichthyosis and neurological signs&#44; our clinical suspicion was a neurocutaneous disorder&#46; Ophthalmologic examination&#44; peripheral blood smear&#44; peripheral blood analysis and abdominal ultrasound were normal&#46; Genetic analysis of the patient confirmed the diagnosis of Sj&#246;gren&#8211;Larsson syndrome &#40;SLS&#41; by identifying two unreported heterozygous ALDH3A2 mutations&#44; a deletion mutation c&#46;154&#95;155delAG &#40;p&#46;Ser52Stop&#41; in exon 2 and a missense mutation c&#46;536A<span class="elsevierStyleHsp" style=""></span>&#62;<span class="elsevierStyleHsp" style=""></span>T &#40;p&#46;Asp179Val&#41; in exon 4&#46; The c&#46;154&#95;155delAG mutation is considered of pathogenic nature&#44; and the variant c&#46;536A<span class="elsevierStyleHsp" style=""></span>&#62;<span class="elsevierStyleHsp" style=""></span>T is likely to cause disease by several in silico analysis&#46; Despite the genetic counseling&#44; the patient&#39;s parents did not want to perform the genetic study in that moment&#46; Progressively&#44; the neurological symptoms were worsening by detecting hyperreflexia&#44; spasticity and delay speech in our patient&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">In 1957&#44; Karl Gustaf Torsten Sj&#246;gren&#44; on collaboration with Tage K&#46; Larsson&#44; established the clinical and genetic profile of the Sj&#246;gren&#8211;Larsson syndrome &#40;SLS&#41;&#46;<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&#44; mild to moderate mental retardation and spastic diplegia or tetraplegia&#44; caused by a fatty aldehyde dehydrogenase &#40;FALDH&#41; deficiency&#46;<a class="elsevierStyleCrossRefs" href="#bib0060"><span class="elsevierStyleSup">4&#44;6&#44;7</span></a> It occurs in all races and its prevalence worldwide has been estimated as 0&#46;4&#58;100&#44;000 live births&#46;<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">1&#44;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 &#40;17p11&#46;2&#41;&#44; that is the gene for FALDH which catalyzes oxidation of long chain aliphatic alcohols to corresponding fatty acids&#46;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">3&#44;8</span></a> The consequent accumulation of fatty aldehyde precursors&#44; including fatty alcohols&#44; caused by the FALDH deficiency&#44; is postulated to affect the normal formation of multilamellar membranes in the stratum corneum and myelin&#44; and to result in the symptoms&#46;<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&#44; but a collodion membrane is rarely seen&#46; Ichthyosis has a generalized distribution across the trunk&#44; flexures and nape of neck&#44; although the central face is spared in most cases&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">1</span></a> Palmoplantar keratoderma is seen in 50&#37; of cases&#46;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">3</span></a> The nails and hair are interestingly normal&#46;<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">6</span></a> Persistent pruritus is common&#44; which is mostly absent in other forms of ichthyosis&#46;<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">1&#44;4&#44;8</span></a> The histological findings of hyperkeratosis&#44; papillomatosis&#44; acanthosis&#44; and a mildly thickened granular layer are nonspecific&#46;<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&#44; because only cutaneous manifestations are present at birth&#46;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">3</span></a> The neurological symptoms appear in the first or second year of life&#44;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">3&#44;4</span></a> and include cognitive impairment&#44; brain magnetic resonance imaging &#40;MRI&#41; findings&#44; speech&#8211;language development and spasticity&#46;<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&#44;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">3</span></a> and their occurrence strongly suggests SLS&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">4</span></a> Macrocephaly is not a characteristic or common finding in SLS&#46;</p><p id="par0035" class="elsevierStylePara elsevierViewall">Mutation analysis of the ALDH3A2 gene is a highly sensitive method of confirming the diagnosis of SLS&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">4</span></a> More than 90 pathogenic variants of ALDH3A2 have been identified to date&#46;<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&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">There is no permanent cure for SLS and no specific therapy&#44; so that a multidisciplinary approach is necessary&#46;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">3</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">In conclusion&#44; we report a new case of SLS caused by two novel mutations&#44; supporting the rich mutational heterogeneity associated with this syndrome&#46; High index of suspicion is necessary for the diagnosis of SLS&#44; so that in a neonate or infant with congenital ichthyosis and neurological symptoms we must rule out this neurocutaneous disorder&#46;</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&#46;</p></span></span>"
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                        0 => array:2 [
                          "etal" => false
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                            4 => "J&#46;Y&#46; Al-Aama"
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                        "volumen" => "42"
                        "paginaInicial" => "706"
                        "paginaFinal" => "709"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/25855245"
                            "web" => "Medline"
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                      ]
                    ]
                  ]
                ]
              ]
            ]
            1 => array:3 [
              "identificador" => "bib0050"
              "etiqueta" => "2"
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                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Sj&#246;gren-Larsson syndrome&#58; a study of clinical symptoms and dermatological treatment in 34 Swedish patients"
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                        0 => array:2 [
                          "etal" => false
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                            2 => "A&#46; Vahlquist"
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                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.2340/00015555-0561"
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                        "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"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
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                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [
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                            1 => "K&#46;V&#46; Raju"
                            2 => "R&#46; Hiremagalore"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.4103/2229-5178.131099"
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                        "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"
                          ]
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                      ]
                    ]
                  ]
                ]
              ]
            ]
            3 => array:3 [
              "identificador" => "bib0060"
              "etiqueta" => "4"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "A Turkish family with Sj&#246;gren&#8211;Larsson syndrome caused by a novel ALDH3A2 mutation"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:4 [
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                            1 => "O&#46;M&#46; Herguner"
                            2 => "W&#46;B&#46; Rizzo"
                            3 => "S&#46; 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"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
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              "identificador" => "bib0065"
              "etiqueta" => "5"
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                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Karl Gustaf Torsten Sj&#246;gren and Sj&#246;gren&#8211;Larsson syndrome"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [
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                            1 => "D&#46;A&#46; Aboud"
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                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
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                      "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"
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                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            5 => array:3 [
              "identificador" => "bib0070"
              "etiqueta" => "6"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Sj&#246;gren-Larsson syndrome&#58; report of monozygote twins and a case with a novel mutation"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [
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                            1 => "A&#46; Terrinoni"
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                        ]
                      ]
                    ]
                  ]
                  "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"
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                      ]
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                  ]
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              ]
            ]
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                        0 => array:2 [
                          "etal" => false
                          "autores" => array:6 [
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                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1684/ejd.2011.1286"
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                        "tituloSerie" => "Eur J Dermatol"
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                        "paginaFinal" => "413"
                        "link" => array:1 [
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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
Autor para correspondencia
estelagperis@gmail.com

Corresponding author.
, I. Latour-Álvarez, M. Pestana-Eliche, R. Sánchez
Department of Dermatology, Hospital Universitario de Canarias, Tenerife, Spain
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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Sj&#246;gren&#8211;Larsson syndrome &#40;SLS&#41; is a rare genetic disorder with autosomal recessive inheritance&#44;<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">1&#44;2</span></a> characterized by clinical triad of congenital ichthyosis&#44; spastic diplegia or tetraplegia and mental retardation&#46;<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">1&#44;3&#44;4</span></a> We report a new patient affected by SLS due to two unreported mutations&#46;</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&#46; He was the first child of non-consanguineous parents&#44; born at 33 weeks of gestation&#46; There was no history suggestive of a collodion membrane at birth&#44; and no family history of ichthyosis&#46; On physical examination we observed generalized fine desquamation on the limbs and trunk without underlying erythema &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>A&#41; and hyperkeratotic skin on the armpits &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>B&#41;&#44; palms and soles &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>C&#41;&#46; Hair and nails appeared normal&#46; Given that an ichthyosis was the diagnosis suspected&#44; a skin biopsy from an armpit was made&#46; Histological study showed hyperkeratosis&#44; psoriasiform epidermal hyperplasia&#44; a prominent granulous layer in some areas of the epidermis and mild perivascular inflammatory infiltrate of mononuclear cells in papillary dermis &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#44; resulting compatible with a congenital ichthyosis&#46; The rest of the physical exam showed the patient had macrocephaly&#44; mild psychomotor retardation&#44; mild axial hypotonia&#44; incipient signs of spasticity in the lower limbs&#44; and occasional spasms&#46; A transfontanelar ultrasound showed benign external hydrocephaly&#44; which was confirmed in a brain magnetic resonance imaging where others anomalies were not observed&#46; Given the coexistence of congenital ichthyosis and neurological signs&#44; our clinical suspicion was a neurocutaneous disorder&#46; Ophthalmologic examination&#44; peripheral blood smear&#44; peripheral blood analysis and abdominal ultrasound were normal&#46; Genetic analysis of the patient confirmed the diagnosis of Sj&#246;gren&#8211;Larsson syndrome &#40;SLS&#41; by identifying two unreported heterozygous ALDH3A2 mutations&#44; a deletion mutation c&#46;154&#95;155delAG &#40;p&#46;Ser52Stop&#41; in exon 2 and a missense mutation c&#46;536A<span class="elsevierStyleHsp" style=""></span>&#62;<span class="elsevierStyleHsp" style=""></span>T &#40;p&#46;Asp179Val&#41; in exon 4&#46; The c&#46;154&#95;155delAG mutation is considered of pathogenic nature&#44; and the variant c&#46;536A<span class="elsevierStyleHsp" style=""></span>&#62;<span class="elsevierStyleHsp" style=""></span>T is likely to cause disease by several in silico analysis&#46; Despite the genetic counseling&#44; the patient&#39;s parents did not want to perform the genetic study in that moment&#46; Progressively&#44; the neurological symptoms were worsening by detecting hyperreflexia&#44; spasticity and delay speech in our patient&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">In 1957&#44; Karl Gustaf Torsten Sj&#246;gren&#44; on collaboration with Tage K&#46; Larsson&#44; established the clinical and genetic profile of the Sj&#246;gren&#8211;Larsson syndrome &#40;SLS&#41;&#46;<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&#44; mild to moderate mental retardation and spastic diplegia or tetraplegia&#44; caused by a fatty aldehyde dehydrogenase &#40;FALDH&#41; deficiency&#46;<a class="elsevierStyleCrossRefs" href="#bib0060"><span class="elsevierStyleSup">4&#44;6&#44;7</span></a> It occurs in all races and its prevalence worldwide has been estimated as 0&#46;4&#58;100&#44;000 live births&#46;<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">1&#44;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 &#40;17p11&#46;2&#41;&#44; that is the gene for FALDH which catalyzes oxidation of long chain aliphatic alcohols to corresponding fatty acids&#46;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">3&#44;8</span></a> The consequent accumulation of fatty aldehyde precursors&#44; including fatty alcohols&#44; caused by the FALDH deficiency&#44; is postulated to affect the normal formation of multilamellar membranes in the stratum corneum and myelin&#44; and to result in the symptoms&#46;<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&#44; but a collodion membrane is rarely seen&#46; Ichthyosis has a generalized distribution across the trunk&#44; flexures and nape of neck&#44; although the central face is spared in most cases&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">1</span></a> Palmoplantar keratoderma is seen in 50&#37; of cases&#46;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">3</span></a> The nails and hair are interestingly normal&#46;<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">6</span></a> Persistent pruritus is common&#44; which is mostly absent in other forms of ichthyosis&#46;<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">1&#44;4&#44;8</span></a> The histological findings of hyperkeratosis&#44; papillomatosis&#44; acanthosis&#44; and a mildly thickened granular layer are nonspecific&#46;<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&#44; because only cutaneous manifestations are present at birth&#46;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">3</span></a> The neurological symptoms appear in the first or second year of life&#44;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">3&#44;4</span></a> and include cognitive impairment&#44; brain magnetic resonance imaging &#40;MRI&#41; findings&#44; speech&#8211;language development and spasticity&#46;<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&#44;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">3</span></a> and their occurrence strongly suggests SLS&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">4</span></a> Macrocephaly is not a characteristic or common finding in SLS&#46;</p><p id="par0035" class="elsevierStylePara elsevierViewall">Mutation analysis of the ALDH3A2 gene is a highly sensitive method of confirming the diagnosis of SLS&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">4</span></a> More than 90 pathogenic variants of ALDH3A2 have been identified to date&#46;<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&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">There is no permanent cure for SLS and no specific therapy&#44; so that a multidisciplinary approach is necessary&#46;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">3</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">In conclusion&#44; we report a new case of SLS caused by two novel mutations&#44; supporting the rich mutational heterogeneity associated with this syndrome&#46; High index of suspicion is necessary for the diagnosis of SLS&#44; so that in a neonate or infant with congenital ichthyosis and neurological symptoms we must rule out this neurocutaneous disorder&#46;</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&#46;</p></span></span>"
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                        "tituloSerie" => "Acta Derm Venereol"
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                        "paginaFinal" => "73"
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                      "titulo" => "A Turkish family with Sj&#246;gren&#8211;Larsson syndrome caused by a novel ALDH3A2 mutation"
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                        0 => array:2 [
                          "etal" => false
                          "autores" => array:4 [
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                        "paginaFinal" => "427"
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                          "autores" => array:2 [
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                        "volumen" => "3"
                        "paginaInicial" => "e34"
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                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/25386286"
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              "etiqueta" => "6"
              "referencia" => array:1 [
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                    0 => array:2 [
                      "titulo" => "Sj&#246;gren-Larsson syndrome&#58; report of monozygote twins and a case with a novel mutation"
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                          "etal" => false
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                  "host" => array:1 [
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                        "tituloSerie" => "Turk J Pediatr"
                        "fecha" => "2012"
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                        "paginaInicial" => "64"
                        "paginaFinal" => "66"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/22397046"
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                  ]
                ]
              ]
            ]
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              "etiqueta" => "7"
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                    0 => array:2 [
                      "titulo" => "Sj&#246;gren&#8211;Larsson syndrome due to a novel mutation in the FALDH gene"
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                          "etal" => false
                          "autores" => array:6 [
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                    0 => array:2 [
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                        "tituloSerie" => "Eur J Dermatol"
                        "fecha" => "2011"
                        "volumen" => "21"
                        "paginaInicial" => "412"
                        "paginaFinal" => "413"
                        "link" => array:1 [
                          0 => array:2 [
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                ]
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                    0 => array:2 [
                      "titulo" => "Sjogren&#8211;Larsson syndrome&#58; a case report of a rare disease"
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